#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ACTRT2	140625	broad.mit.edu	37	1	2938328	2938328	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:2938328T>A	ENST00000378404.2	+	1	283	c.78T>A	c.(76-78)tcT>tcA	p.S26S		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	26						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S26S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CGGGCCTGTCTGGGGAGTTTG	0.582																																							uc001ajz.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(76-78)TCT>TCA		actin-related protein M2							38.0	41.0	40.0					1																	2938328		2203	4300	6503	SO:0001819	synonymous_variant	140625					cytoplasm|cytoskeleton		g.chr1:2938328T>A	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.78T>A	1.37:g.2938328T>A							p.S26S	NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	283	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	26					B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	c.78T>A	CCDS45.1																																																																																				0.582	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		8	40	0	0	0	0.006214	0	8	40				
AJAP1	55966	broad.mit.edu	37	1	4832465	4832465	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:4832465C>A	ENST00000378191.4	+	4	1424	c.1043C>A	c.(1042-1044)aCg>aAg	p.T348K	AJAP1_ENST00000378190.3_Missense_Mutation_p.T348K	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	348	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T348K(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GACATATTCACGGCCTATAAC	0.617																																							uc001alm.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1042-1044)ACG>AAG		adherens junction associated protein 1							79.0	67.0	71.0					1																	4832465		2203	4300	6503	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4832465C>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1043C>A	1.37:g.4832465C>A	ENSP00000367433:p.Thr348Lys					AJAP1_uc001aln.2_Missense_Mutation_p.T348K	p.T348K	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	4	1424	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	348			Targeting signals.|Cytoplasmic (Potential).		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.1043C>A	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979604	0.92982	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.54071	0.59;0.59	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.61476	0.2350	L	0.27053	0.805	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.62812	-0.6775	10	0.45353	T	0.12	-16.9458	17.1126	0.86680	0.0:1.0:0.0:0.0	.	348	Q9UKB5	AJAP1_HUMAN	K	348	ENSP00000367432:T348K;ENSP00000367433:T348K	ENSP00000367432:T348K	T	+	2	0	AJAP1	4732325	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.296000	0.78790	2.380000	0.81148	0.561000	0.74099	ACG		0.617	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		15	50	1	0	5.01169e-05	0.00499	5.61081e-05	15	50				
UBE4B	10277	broad.mit.edu	37	1	10211596	10211596	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:10211596C>T	ENST00000253251.8	+	20	3355	c.2516C>T	c.(2515-2517)cCt>cTt	p.P839L	UBE4B_ENST00000377157.3_Missense_Mutation_p.P723L|UBE4B_ENST00000343090.6_Missense_Mutation_p.P968L					ubiquitination factor E4B									p.P968L(1)|p.P839L(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTGTTGGTACCTTCCCTGATG	0.458																																							uc001aqs.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(2902-2904)CCT>CTT		ubiquitination factor E4B isoform 1							157.0	143.0	148.0					1																	10211596		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10211596C>T	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2516C>T	1.37:g.10211596C>T	ENSP00000253251:p.Pro839Leu					UBE4B_uc001aqr.3_Missense_Mutation_p.P839L|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.P423L|UBE4B_uc001aqt.1_Missense_Mutation_p.P308L	p.P968L	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	21	3616	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	968						Missense_Mutation	SNP	ENST00000253251.8	37	c.2903C>T	CCDS110.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289750	0.80914	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.45276	0.9;0.9;0.9	5.13	5.13	0.70059	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	L	0.52905	1.665	0.80722	D	1	D;D;D	0.61080	0.978;0.989;0.973	P;P;P	0.59357	0.756;0.856;0.642	T	0.46965	-0.9153	10	0.19147	T	0.46	-15.1338	18.5883	0.91199	0.0:1.0:0.0:0.0	.	839;968;839	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	L	839;723;968	ENSP00000253251:P839L;ENSP00000366362:P723L;ENSP00000343001:P968L	ENSP00000253251:P839L	P	+	2	0	UBE4B	10134183	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.814000	0.86154	2.390000	0.81377	0.460000	0.39030	CCT		0.458	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		35	131	0	0	0	0.004289	0	35	131				
MFN2	9927	broad.mit.edu	37	1	12061527	12061527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:12061527C>T	ENST00000235329.5	+	9	1208	c.886C>T	c.(886-888)Cag>Tag	p.Q296*	MFN2_ENST00000444836.1_Nonsense_Mutation_p.Q296*	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	296	Dynamin-type G.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)	p.Q296*(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GGATCGATCCCAGGCCGGGGA	0.577																																							uc001atn.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(886-888)CAG>TAG		mitofusin 2							68.0	61.0	64.0					1																	12061527		2203	4300	6503	SO:0001587	stop_gained	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12061527C>T	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.886C>T	1.37:g.12061527C>T	ENSP00000235329:p.Gln296*					MFN2_uc009vni.2_Nonsense_Mutation_p.Q296*	p.Q296*	NM_014874	NP_055689	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	9	1339	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	296			Cytoplasmic (Potential).		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Nonsense_Mutation	SNP	ENST00000235329.5	37	c.886C>T	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	C	38	7.105478	0.98066	.	.	ENSG00000116688	ENST00000444836;ENST00000235329	.	.	.	5.23	5.23	0.72850	.	0.059153	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-27.241	13.8477	0.63477	0.0:0.8471:0.1529:0.0	.	.	.	.	X	296	.	ENSP00000235329:Q296X	Q	+	1	0	MFN2	11984114	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	4.526000	0.60566	2.596000	0.87737	0.650000	0.86243	CAG		0.577	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		6	28	0	0	0	0.001984	0	6	28				
TNFRSF1B	7133	broad.mit.edu	37	1	12251948	12251948	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:12251948A>T	ENST00000376259.3	+	4	514	c.425A>T	c.(424-426)aAg>aTg	p.K142M	MIR4632_ENST00000584158.1_RNA|TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.K142M	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	142					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)	p.K142M(1)		central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	CCGCTGCGCAAGTGCCGCCCG	0.687																																							uc001att.2		NA																	1	Substitution - Missense(1)		lung(1)	liver(1)|central_nervous_system(1)|skin(1)	3						c.(424-426)AAG>ATG		tumor necrosis factor receptor 2 precursor	Etanercept(DB00005)|Infliximab(DB00065)						19.0	22.0	21.0					1																	12251948		2200	4297	6497	SO:0001583	missense	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12251948A>T	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.425A>T	1.37:g.12251948A>T	ENSP00000365435:p.Lys142Met					TNFRSF1B_uc001atu.2_Translation_Start_Site|TNFRSF1B_uc009vnk.2_RNA	p.K142M	NM_001066	NP_001057	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	4	514	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	142			TNFR-Cys 3.|Extracellular (Potential).		B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	37	c.425A>T	CCDS145.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.383510	0.61845	.	.	ENSG00000028137	ENST00000376259;ENST00000400863;ENST00000536782	T;T	0.74106	0.1;-0.81	4.12	1.7	0.24286	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.447858	0.23433	N	0.048224	T	0.79341	0.4429	M	0.81341	2.54	0.25088	N	0.990877	D	0.69078	0.997	P	0.56127	0.792	T	0.69621	-0.5096	10	0.59425	D	0.04	-23.8497	5.6608	0.17668	0.7654:0.0:0.2346:0.0	.	142	P20333	TNR1B_HUMAN	M	142	ENSP00000365435:K142M;ENSP00000440425:K142M	ENSP00000365435:K142M	K	+	2	0	TNFRSF1B	12174535	0.591000	0.26824	0.508000	0.27688	0.120000	0.20174	-0.057000	0.11768	0.236000	0.21180	0.454000	0.30748	AAG		0.687	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		7	20	0	0	0	0.00308	0	7	20				
PRAMEF2	65122	broad.mit.edu	37	1	12919018	12919018	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:12919018C>A	ENST00000240189.2	+	2	241	c.154C>A	c.(154-156)Ctg>Atg	p.L52M		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	52					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L52M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCCAGACTCTGACGGTGAT	0.577																																							uc001aum.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(154-156)CTG>ATG		PRAME family member 2							129.0	135.0	133.0					1																	12919018		2201	4295	6496	SO:0001583	missense	65122							g.chr1:12919018C>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.154C>A	1.37:g.12919018C>A	ENSP00000240189:p.Leu52Met						p.L52M	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	241	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	52						Missense_Mutation	SNP	ENST00000240189.2	37	c.154C>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280577	0.23392	.	.	ENSG00000120952	ENST00000240189	T	0.18174	2.23	0.842	0.842	0.18927	.	0.187155	0.35646	N	0.003069	T	0.36386	0.0965	M	0.82517	2.595	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04029	-1.0983	10	0.59425	D	0.04	.	5.0452	0.14480	0.0:1.0:0.0:0.0	.	52	O60811	PRAM2_HUMAN	M	52	ENSP00000240189:L52M	ENSP00000240189:L52M	L	+	1	2	PRAMEF2	12841605	0.042000	0.20092	0.008000	0.14137	0.003000	0.03518	0.543000	0.23237	0.759000	0.33084	0.194000	0.17425	CTG		0.577	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		33	106	1	0	9.39024e-22	0.009718	1.46357e-21	33	106				
CELA2A	63036	broad.mit.edu	37	1	15789916	15789916	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:15789916T>A	ENST00000359621.4	+	5	417	c.392T>A	c.(391-393)gTc>gAc	p.V131D		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	131	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)	p.V131D(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						GCTAACCCCGTCTCCCTCACC	0.612																																							uc001awk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(391-393)GTC>GAC		elastase 2A preproprotein							181.0	136.0	151.0					1																	15789916		2203	4298	6501	SO:0001583	missense	63036				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15789916T>A		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.392T>A	1.37:g.15789916T>A	ENSP00000352639:p.Val131Asp						p.V131D	NM_033440	NP_254275	P08217	CEL2A_HUMAN			5	418	+			131			Peptidase S1.		B2R5I4|Q14243	Missense_Mutation	SNP	ENST00000359621.4	37	c.392T>A	CCDS157.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.318167	0.40996	.	.	ENSG00000142615	ENST00000359621	D	0.94687	-3.49	3.82	2.67	0.31697	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.50627	U	0.000106	D	0.96651	0.8907	M	0.85777	2.775	0.41365	D	0.987456	D	0.89917	1.0	D	0.97110	1.0	D	0.95350	0.8446	10	0.87932	D	0	.	7.7628	0.28961	0.0:0.1067:0.0:0.8933	.	131	P08217	CEL2A_HUMAN	D	131	ENSP00000352639:V131D	ENSP00000352639:V131D	V	+	2	0	CELA2A	15662503	0.949000	0.32298	0.077000	0.20336	0.503000	0.33858	1.611000	0.36879	0.359000	0.24239	0.260000	0.18958	GTC		0.612	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		17	64	0	0	0	0.001882	0	17	64				
SPEN	23013	broad.mit.edu	37	1	16261133	16261133	+	Missense_Mutation	SNP	G	G	C	rs140025266		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:16261133G>C	ENST00000375759.3	+	11	8602	c.8398G>C	c.(8398-8400)Gcg>Ccg	p.A2800P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2800	Interaction with RBPSUH. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.A2800P(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCCGGCAGACGCGGGCTCAGG	0.592																																							uc001axk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(8398-8400)GCG>CCG		spen homolog, transcriptional regulator							41.0	46.0	44.0					1																	16261133		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16261133G>C		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8398G>C	1.37:g.16261133G>C	ENSP00000364912:p.Ala2800Pro					SPEN_uc010obp.1_Missense_Mutation_p.A2759P	p.A2800P	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	8602	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2800			Interaction with RBPSUH (By similarity).		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.8398G>C	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	1.038	-0.679824	0.03353	.	.	ENSG00000065526	ENST00000375759	T	0.09538	2.97	5.18	-6.62	0.01813	.	.	.	.	.	T	0.06050	0.0157	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.14023	0.01	T	0.40997	-0.9533	9	0.28530	T	0.3	-0.6608	9.0157	0.36168	0.6946:0.0923:0.2131:0.0	.	2800	Q96T58	MINT_HUMAN	P	2800	ENSP00000364912:A2800P	ENSP00000364912:A2800P	A	+	1	0	SPEN	16133720	0.086000	0.21541	0.001000	0.08648	0.014000	0.08584	0.132000	0.15891	-1.213000	0.02617	-0.258000	0.10820	GCG		0.592	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		3	50	0	0	0	0.009096	0	3	50				
CLCNKA	1187	broad.mit.edu	37	1	16352635	16352635	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:16352635G>C	ENST00000331433.4	+	5	410	c.391G>C	c.(391-393)Gcg>Ccg	p.A131P	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000375692.1_Missense_Mutation_p.A131P|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A131P|CLCNKA_ENST00000439316.2_Missense_Mutation_p.A88P			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	131					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.A131P(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GACCATGTTGGCGGGTGTGAT	0.572																																							uc001axu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(391-393)GCG>CCG		chloride channel Ka isoform 1	Niflumic Acid(DB04552)						238.0	235.0	236.0					1																	16352635		2203	4300	6503	SO:0001583	missense	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16352635G>C		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.391G>C	1.37:g.16352635G>C	ENSP00000332771:p.Ala131Pro					CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.A131P|CLCNKA_uc010obw.1_Missense_Mutation_p.A88P|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank	p.A131P	NM_004070	NP_004061	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	5	471	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	131					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.391G>C	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	9.871	1.199020	0.22121	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	3.27	0.622	0.17648	Chloride channel, core (2);	1.270920	0.05194	N	0.503679	D	0.93680	0.7981	L	0.46157	1.445	0.09310	N	1	P;P;P	0.37276	0.589;0.589;0.589	P;P;P	0.50896	0.653;0.529;0.529	D	0.83667	0.0164	10	0.72032	D	0.01	.	0.5888	0.00724	0.3596:0.1118:0.1792:0.3495	.	88;131;131	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	P	131;131;88;131	ENSP00000364844:A131P;ENSP00000410353:A131P;ENSP00000414445:A88P;ENSP00000332771:A131P	ENSP00000332771:A131P	A	+	1	0	CLCNKA	16225222	0.017000	0.18338	0.348000	0.25681	0.125000	0.20455	0.162000	0.16501	0.015000	0.14971	-0.823000	0.03104	GCG		0.572	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			71	280	0	0	0	0.00361	0	71	280				
MST1L	11223	broad.mit.edu	37	1	17085041	17085041	+	RNA	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:17085041C>T	ENST00000455405.2	-	0	147							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.R447R(1)|p.R478R(1)									GCTGATCCAGCCGATCCACCC	0.607																																							uc010ock.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1432-1434)CGG>CGA		SubName: Full=Hepatocyte growth factor-like protein homolog;																																						11223							g.chr1:17085041C>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085041C>T						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_Silent_p.R52R	p.R478R	NR_002729						11	1434	-								B7WPB1|Q13209	Silent	SNP	ENST00000455405.2	37	c.1434G>A																																																																																					0.607	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		6	107	0	0	0	0.001984	0	6	107				
PADI1	29943	broad.mit.edu	37	1	17570704	17570704	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:17570704C>A	ENST00000375471.4	+	16	2050	c.1958C>A	c.(1957-1959)cCc>cAc	p.P653H	PADI1_ENST00000536552.1_Missense_Mutation_p.P124H|PADI1_ENST00000413717.2_Missense_Mutation_p.P168H|PADI1_ENST00000537499.1_Missense_Mutation_p.P210H|PADI1_ENST00000460293.1_3'UTR	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	653					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.P653H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CGCAGGAAGCCCTTTCCCTTC	0.602																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	Esophageal Squamous(80;414 1257 4580 27746 50832)	uc001bah.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1957-1959)CCC>CAC		peptidylarginine deiminase type I	L-Citrulline(DB00155)						91.0	86.0	88.0					1																	17570704		2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17570704C>A	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1958C>A	1.37:g.17570704C>A	ENSP00000364620:p.Pro653His					PADI1_uc010oco.1_Missense_Mutation_p.P210H|PADI1_uc010ocp.1_Missense_Mutation_p.P168H|PADI1_uc010ocq.1_Missense_Mutation_p.P124H|PADI1_uc009vpb.1_Missense_Mutation_p.P47T	p.P653H	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	16	2050	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	653					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.1958C>A	CCDS178.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825174	0.71143	.	.	ENSG00000142623	ENST00000375471;ENST00000537499;ENST00000413717;ENST00000536552	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.05	5.05	0.67936	Protein-arginine deiminase, C-terminal (1);	0.207908	0.41194	D	0.000934	T	0.67878	0.2940	M	0.90425	3.115	0.38417	D	0.946078	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.78008	-0.2372	10	0.87932	D	0	-27.7925	16.987	0.86342	0.0:1.0:0.0:0.0	.	168;653	B4DPX6;Q9ULC6	.;PADI1_HUMAN	H	653;210;168;124	ENSP00000364620:P653H;ENSP00000444032:P210H;ENSP00000396697:P168H;ENSP00000444833:P124H	ENSP00000364620:P653H	P	+	2	0	PADI1	17443291	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.849000	0.69465	2.337000	0.79520	0.561000	0.74099	CCC		0.602	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		24	76	1	0	1.96895e-08	0.00278	2.4744e-08	24	76				
PADI4	23569	broad.mit.edu	37	1	17668497	17668497	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:17668497C>T	ENST00000375448.4	+	7	738	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	238					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.L238L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CTCTCACTACCTGATGGTCCC	0.607																																							uc001baj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(712-714)CTG>TTG		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						80.0	75.0	77.0					1																	17668497		2203	4300	6503	SO:0001819	synonymous_variant	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17668497C>T	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.712C>T	1.37:g.17668497C>T						PADI4_uc009vpc.2_Silent_p.L238L	p.L238L	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	7	740	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	238					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	ENST00000375448.4	37	c.712C>T	CCDS180.1																																																																																				0.607	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		12	45	0	0	0	0.001368	0	12	45				
IGSF21	84966	broad.mit.edu	37	1	18691926	18691926	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:18691926G>T	ENST00000251296.1	+	6	1133	c.750G>T	c.(748-750)ctG>ctT	p.L250L		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	250						extracellular region (GO:0005576)		p.L250L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCCGTGGCCTGACCCCAGATC	0.642																																							uc001bau.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(748-750)CTG>CTT		immunoglobin superfamily, member 21 precursor							98.0	106.0	103.0					1																	18691926		2203	4300	6503	SO:0001819	synonymous_variant	84966					extracellular region		g.chr1:18691926G>T	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.750G>T	1.37:g.18691926G>T						IGSF21_uc001bav.1_Silent_p.L71L	p.L250L	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	6	1133	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	250					Q8NBR8	Silent	SNP	ENST00000251296.1	37	c.750G>T	CCDS184.1	.	.	.	.	.	.	.	.	.	.	G	9.195	1.026977	0.19512	.	.	ENSG00000117154	ENST00000412684	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	T	0.61850	0.2380	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59690	-0.7407	4	.	.	.	-7.3663	10.8817	0.46942	0.0883:0.0:0.9117:0.0	.	.	.	.	Y	203	.	.	D	+	1	0	IGSF21	18564513	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	0.780000	0.26760	2.501000	0.84356	0.561000	0.74099	GAC		0.642	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		44	141	1	0	9.9191e-30	0.00874	1.61373e-29	44	141				
HSPG2	3339	broad.mit.edu	37	1	22157584	22157584	+	Splice_Site	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:22157584C>G	ENST00000374695.3	-	85	11642		c.e85-1		HSPG2_ENST00000486901.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						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.?(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)	GACCGCCATTCTGCAAAGCAG	0.637																																							uc001bfj.2		NA																	1	Unknown(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.e85-1		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						27.0	31.0	30.0					1																	22157584		2202	4299	6501	SO:0001630	splice_region_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22157584C>G	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.11563-1G>C	1.37:g.22157584C>G						HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Splice_Site_p.N3856_splice	p.N3855_splice	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)	85	11603	-		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)						Q16287|Q5SZI3|Q9H3V5	Splice_Site	SNP	ENST00000374695.3	37	c.11563_splice	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	c	16.34	3.095670	0.56075	.	.	ENSG00000142798	ENST00000374695	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0336	0.80603	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPG2	22030171	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	5.174000	0.65015	2.558000	0.86282	0.457000	0.33378	.		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	Intron	4	14	0	0	0	0.009096	0	4	14				
EPHA8	2046	broad.mit.edu	37	1	22913015	22913015	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:22913015T>G	ENST00000166244.3	+	4	938	c.866T>G	c.(865-867)cTg>cGg	p.L289R	EPHA8_ENST00000374644.4_Missense_Mutation_p.L289R|EPHA8_ENST00000538803.1_Missense_Mutation_p.L289R	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	289	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.L289R(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGGACCAGCTGTGTGCCCGC	0.687																																							uc001bfx.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(865-867)CTG>CGG		ephrin receptor EphA8 isoform 1 precursor							44.0	44.0	44.0					1																	22913015		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22913015T>G	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.866T>G	1.37:g.22913015T>G	ENSP00000166244:p.Leu289Arg					EPHA8_uc001bfw.2_Missense_Mutation_p.L289R	p.L289R	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	4	991	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	289			Extracellular (Potential).|Cys-rich.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.866T>G	CCDS225.1	.	.	.	.	.	.	.	.	.	.	T	6.630	0.484630	0.12641	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;D;D	0.97404	1.54;-4.37;-4.37	4.35	4.35	0.52113	.	0.399068	0.23573	N	0.046723	D	0.93132	0.7813	L	0.33753	1.03	0.33099	D	0.539023	B;B	0.13145	0.007;0.004	B;B	0.12156	0.003;0.007	D	0.91373	0.5121	10	0.16420	T	0.52	.	12.5087	0.55995	0.0:0.0:0.0:1.0	.	289;289	P29322;P29322-2	EPHA8_HUMAN;.	R	289	ENSP00000166244:L289R;ENSP00000363775:L289R;ENSP00000440274:L289R	ENSP00000166244:L289R	L	+	2	0	EPHA8	22785602	1.000000	0.71417	0.999000	0.59377	0.892000	0.51952	1.923000	0.40055	1.837000	0.53436	0.374000	0.22700	CTG		0.687	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		7	50	0	0	0	0.006214	0	7	50				
EPHA8	2046	broad.mit.edu	37	1	22924292	22924292	+	Missense_Mutation	SNP	C	C	G	rs201485535		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:22924292C>G	ENST00000166244.3	+	11	2126	c.2054C>G	c.(2053-2055)gCg>gGg	p.A685G		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	685	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.A685G(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGAGCGAGGCGTCCATCATG	0.662																																							uc001bfx.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(2053-2055)GCG>GGG		ephrin receptor EphA8 isoform 1 precursor							88.0	91.0	90.0					1																	22924292		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22924292C>G	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2054C>G	1.37:g.22924292C>G	ENSP00000166244:p.Ala685Gly						p.A685G	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	11	2179	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	685			Cytoplasmic (Potential).|Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.2054C>G	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487793	0.84854	.	.	ENSG00000070886	ENST00000166244	T	0.64260	-0.09	4.56	4.56	0.56223	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81569	0.4850	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.85467	0.1170	10	0.87932	D	0	.	16.0699	0.80919	0.0:1.0:0.0:0.0	.	685	P29322	EPHA8_HUMAN	G	685	ENSP00000166244:A685G	ENSP00000166244:A685G	A	+	2	0	EPHA8	22796879	1.000000	0.71417	0.933000	0.37362	0.662000	0.39071	7.651000	0.83577	2.365000	0.80145	0.462000	0.41574	GCG		0.662	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		9	114	0	0	0	0.004482	0	9	114				
LUZP1	7798	broad.mit.edu	37	1	23417697	23417697	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:23417697G>A	ENST00000302291.4	-	4	3859	c.3058C>T	c.(3058-3060)Cac>Tac	p.H1020Y	LUZP1_ENST00000374623.3_Missense_Mutation_p.H1020Y|LUZP1_ENST00000314174.5_Missense_Mutation_p.H1020Y|LUZP1_ENST00000418342.1_Missense_Mutation_p.H1020Y			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	1020					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.H1020Y(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTTGCTGAGTGGTTCCAGGCT	0.552																																							uc001bgk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3058-3060)CAC>TAC		leucine zipper protein 1							43.0	35.0	38.0					1																	23417697		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23417697G>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.3058C>T	1.37:g.23417697G>A	ENSP00000303758:p.His1020Tyr					LUZP1_uc010odv.1_Missense_Mutation_p.H1020Y|LUZP1_uc001bgl.2_Missense_Mutation_p.H1020Y|LUZP1_uc001bgm.1_Missense_Mutation_p.H1020Y	p.H1020Y	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3442	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	1020					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.3058C>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547441	0.65311	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.14893	2.68;2.68;2.68;2.47	5.19	5.19	0.71726	.	0.139701	0.33180	N	0.005197	T	0.21022	0.0506	L	0.51422	1.61	0.27956	N	0.936958	P;P	0.42296	0.775;0.775	B;B	0.44044	0.439;0.439	T	0.11251	-1.0595	10	0.87932	D	0	.	11.4216	0.49985	0.0865:0.0:0.9135:0.0	.	1020;1020	Q86V48-2;Q86V48	.;LUZP1_HUMAN	Y	1020	ENSP00000393460:H1020Y;ENSP00000363752:H1020Y;ENSP00000303758:H1020Y;ENSP00000313705:H1020Y	ENSP00000303758:H1020Y	H	-	1	0	LUZP1	23290284	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	4.870000	0.63035	2.424000	0.82194	0.585000	0.79938	CAC		0.552	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		4	9	0	0	0	0.000602	0	4	9				
DHDDS	79947	broad.mit.edu	37	1	26784343	26784343	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:26784343A>T	ENST00000236342.7	+	7	697	c.604A>T	c.(604-606)Atc>Ttc	p.I202F	DHDDS_ENST00000360009.2_Missense_Mutation_p.I202F|DHDDS_ENST00000526219.1_Missense_Mutation_p.I163F|DHDDS_ENST00000525682.2_Missense_Mutation_p.I168F			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	202					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)	p.I202F(1)		breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCATCCTGACATCTTGATACG	0.458																																							uc001bml.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(604-606)ATC>TTC		dehydrodolichyl diphosphate synthase isoform b							260.0	229.0	240.0					1																	26784343		2203	4300	6503	SO:0001583	missense	79947						protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups	g.chr1:26784343A>T	AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.604A>T	1.37:g.26784343A>T	ENSP00000236342:p.Ile202Phe					DHDDS_uc001bmk.2_Missense_Mutation_p.I202F|DHDDS_uc001bmm.2_Missense_Mutation_p.I109F|DHDDS_uc001bmn.2_Missense_Mutation_p.I163F|DHDDS_uc010ofd.1_Missense_Mutation_p.I168F	p.I202F	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)	7	725	+		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	202					B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Missense_Mutation	SNP	ENST00000236342.7	37	c.604A>T	CCDS282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.3|29.3	4.991695|4.991695	0.93106|0.93106	.|.	.|.	ENSG00000117682|ENSG00000117682	ENST00000416052|ENST00000374187;ENST00000374192;ENST00000525682;ENST00000236342;ENST00000526219;ENST00000360009;ENST00000436153;ENST00000430232;ENST00000431933	.|T;T;T;T;T;T	.|0.78481	.|-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Di-trans-poly-cis-decaprenylcistransferase-like, conserved site (1);	.|0.052239	.|0.85682	.|D	.|0.000000	D|D	0.82761|0.82761	0.5107|0.5107	L|L	0.53617|0.53617	1.68|1.68	0.51233|0.51233	D|D	0.999918|0.999918	.|P;P;P;P	.|0.45212	.|0.607;0.731;0.853;0.823	.|B;B;P;P	.|0.58266	.|0.315;0.299;0.836;0.747	D|D	0.84109|0.84109	0.0400|0.0400	5|10	.|0.87932	.|D	.|0	-18.3069|-18.3069	10.8563|10.8563	0.46800|0.46800	0.7455:0.2545:0.0:0.0|0.7455:0.2545:0.0:0.0	.|.	.|168;163;202;202	.|B7Z4B9;Q86SQ9-3;Q86SQ9;Q86SQ9-2	.|.;.;DHDDS_HUMAN;.	L|F	78|75;98;168;202;163;202;205;163;73	.|ENSP00000434984:I168F;ENSP00000236342:I202F;ENSP00000434219:I163F;ENSP00000353104:I202F;ENSP00000397584:I163F;ENSP00000399781:I73F	.|ENSP00000236342:I202F	H|I	+|+	2|1	0|0	DHDDS|DHDDS	26656930|26656930	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.623000|1.623000	0.37008|0.37008	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	CAT|ATC		0.458	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392504.1	NM_024887		48	158	0	0	0	0.00361	0	48	158				
SRSF4	6429	broad.mit.edu	37	1	29476680	29476680	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:29476680G>T	ENST00000373795.4	-	5	837	c.603C>A	c.(601-603)tcC>tcA	p.S201S	SRSF4_ENST00000546138.1_Intron|SRSF4_ENST00000466448.1_Intron|RP11-242O24.5_ENST00000450108.1_RNA	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	201	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S201S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TGCTCTTACGGGAATGTCTGC	0.438																																							uc001bro.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(601-603)TCC>TCA		splicing factor, arginine/serine-rich 4							186.0	184.0	185.0					1																	29476680		2203	4300	6503	SO:0001819	synonymous_variant	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29476680G>T	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.603C>A	1.37:g.29476680G>T						SFRS4_uc010ofy.1_Intron	p.S201S	NM_005626	NP_005617	Q08170	SRSF4_HUMAN		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)	5	976	-		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)	201			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	Silent	SNP	ENST00000373795.4	37	c.603C>A	CCDS333.1																																																																																				0.438	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		25	172	1	0	1.75199e-13	0.007291	2.4505e-13	25	172				
TMEM39B	55116	broad.mit.edu	37	1	32566053	32566053	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:32566053G>A	ENST00000336294.5	+	8	1272	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	TMEM39B_ENST00000427288.1_Missense_Mutation_p.E261K|TMEM39B_ENST00000456834.2_3'UTR|TMEM39B_ENST00000373634.4_Missense_Mutation_p.E177K|TMEM39B_ENST00000487305.1_3'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	376						integral component of membrane (GO:0016021)		p.E249K(1)|p.E376K(1)		endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GTGGACTGAAGAATGCATGTG	0.572																																							uc010ogv.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1126-1128)GAA>AAA		transmembrane protein 39B							57.0	45.0	49.0					1																	32566053		2203	4300	6503	SO:0001583	missense	55116					integral to membrane		g.chr1:32566053G>A	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.1126G>A	1.37:g.32566053G>A	ENSP00000338165:p.Glu376Lys					TMEM39B_uc010ogt.1_RNA|TMEM39B_uc010ogu.1_Missense_Mutation_p.E249K|TMEM39B_uc001bue.3_Missense_Mutation_p.E377K|TMEM39B_uc001buf.3_Missense_Mutation_p.E177K|TMEM39B_uc010ogw.1_Missense_Mutation_p.E177K	p.E376K	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN			8	1272	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	376					B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	37	c.1126G>A	CCDS351.2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779963	0.90195	.	.	ENSG00000121775	ENST00000336294;ENST00000373634;ENST00000427288	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.75598	0.3871	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.83275	0.992;0.996;0.992	T	0.70766	-0.4783	9	0.06365	T	0.9	-9.8055	18.6934	0.91592	0.0:0.0:1.0:0.0	.	376;261;249	Q9GZU3;B4DTN8;Q9NW51	TM39B_HUMAN;.;.	K	376;177;261	.	ENSP00000338165:E376K	E	+	1	0	TMEM39B	32338640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.569000	0.60865	2.491000	0.84063	0.655000	0.94253	GAA		0.572	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		6	34	0	0	0	0.001168	0	6	34				
GRIK3	2899	broad.mit.edu	37	1	37271748	37271748	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:37271748C>A	ENST00000373091.3	-	14	2287	c.2271G>T	c.(2269-2271)ggG>ggT	p.G757G	GRIK3_ENST00000373093.4_Silent_p.G757G	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	757					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.G757G(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CAATGAGGCCCCCGATCTGGG	0.662																																							uc001caz.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(2269-2271)GGG>GGT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						179.0	124.0	143.0					1																	37271748		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37271748C>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2271G>T	1.37:g.37271748C>A						GRIK3_uc001cba.1_Silent_p.G757G	p.G757G	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			14	2406	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	757			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.2271G>T	CCDS416.1																																																																																				0.662	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		7	83	1	0	2.17888e-05	0.006214	2.47016e-05	7	83				
GRIK3	2899	broad.mit.edu	37	1	37324781	37324781	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:37324781G>T	ENST00000373091.3	-	7	1048	c.1032C>A	c.(1030-1032)acC>acA	p.T344T	GRIK3_ENST00000462621.1_5'Flank|GRIK3_ENST00000373093.4_Silent_p.T344T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	344					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.T344T(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GGGAGTTCACGGTCATCTGTG	0.622																																							uc001caz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(1030-1032)ACC>ACA		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						137.0	120.0	126.0					1																	37324781		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37324781G>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1032C>A	1.37:g.37324781G>T						GRIK3_uc001cba.1_Silent_p.T344T	p.T344T	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			7	1167	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	344			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.1032C>A	CCDS416.1																																																																																				0.622	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		23	146	1	0	5.35356e-11	0.00278	7.05726e-11	23	146				
SNIP1	79753	broad.mit.edu	37	1	38019721	38019721	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:38019721T>A	ENST00000296215.6	-	1	182	c.110A>T	c.(109-111)gAa>gTa	p.E37V	DNALI1_ENST00000541606.1_5'Flank|DNALI1_ENST00000296218.7_5'Flank|SNIP1_ENST00000468040.1_Intron	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	37					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E37V(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				AGGTGCGACTTCTGGGCTGAG	0.741																																							uc001cbi.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(109-111)GAA>GTA		Smad nuclear interacting protein							28.0	28.0	28.0					1																	38019721		2198	4299	6497	SO:0001583	missense	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38019721T>A		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.110A>T	1.37:g.38019721T>A	ENSP00000296215:p.Glu37Val					SNIP1_uc010oid.1_RNA|DNALI1_uc001cbj.2_5'Flank|DNALI1_uc010oie.1_5'Flank	p.E37V	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN			1	183	-		Myeloproliferative disorder(586;0.0393)	37					Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	c.110A>T	CCDS419.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.420904	0.42918	.	.	ENSG00000163877	ENST00000296215;ENST00000436196	T	0.17370	2.28	5.15	4.04	0.47022	.	0.939550	0.08979	N	0.866065	T	0.09379	0.0231	N	0.12182	0.205	0.27302	N	0.957564	P	0.44877	0.845	B	0.38803	0.282	T	0.04991	-1.0913	10	0.33141	T	0.24	-0.0228	7.0667	0.25156	0.0:0.0981:0.0:0.9019	.	37	Q8TAD8	SNIP1_HUMAN	V	37;21	ENSP00000296215:E37V	ENSP00000296215:E37V	E	-	2	0	SNIP1	37792308	0.315000	0.24571	0.833000	0.33012	0.011000	0.07611	1.511000	0.35801	2.289000	0.77006	0.533000	0.62120	GAA		0.741	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		15	24	0	0	0	0.003163	0	15	24				
KIAA0754	643314	broad.mit.edu	37	1	39880114	39880114	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:39880114C>A	ENST00000530275.1	+	1	3964	c.3769C>A	c.(3769-3771)Cct>Act	p.P1257T	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1257										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGGAAAGTGCCTCTGGCTGC	0.473																																							uc009vvt.1		NA																	0					0						c.(4177-4179)CCT>ACT		hypothetical protein LOC643314							68.0	70.0	69.0					1																	39880114		1979	4156	6135	SO:0001583	missense	643314							g.chr1:39880114C>A			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.3769C>A	1.37:g.39880114C>A	ENSP00000431179:p.Pro1257Thr					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.P1393T	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	4939	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	1257					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.4177C>A		.	.	.	.	.	.	.	.	.	.	C	13.58	2.280786	0.40294	.	.	ENSG00000127603;ENSG00000255103	ENST00000482035;ENST00000530275	T;T	0.53423	0.62;0.8	4.79	1.85	0.25348	.	.	.	.	.	T	0.44498	0.1296	N	0.24115	0.695	0.20307	N	0.999915	D	0.59357	0.985	P	0.55824	0.785	T	0.25082	-1.0142	9	0.87932	D	0	.	7.3401	0.26632	0.0:0.7016:0.0:0.2984	.	1257	O94854	K0754_HUMAN	T	15;1257	ENSP00000433104:P15T;ENSP00000431179:P1257T	ENSP00000431179:P1257T	P	+	1	0	MACF1;RP4-562N20.1	39652701	0.998000	0.40836	0.998000	0.56505	0.840000	0.47671	0.446000	0.21694	0.576000	0.29452	0.637000	0.83480	CCT		0.473	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		9	36	1	0	0.000274275	0.004482	0.000298378	9	36				
KIF2C	11004	broad.mit.edu	37	1	45232525	45232525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:45232525G>T	ENST00000372224.4	+	20	2112	c.1999G>T	c.(1999-2001)Gag>Tag	p.E667*	KIF2C_ENST00000372218.4_Nonsense_Mutation_p.E626*|KIF2C_ENST00000372222.3_Nonsense_Mutation_p.E554*|KIF2C_ENST00000372217.1_Nonsense_Mutation_p.E613*|RP11-269F19.2_ENST00000428791.1_RNA	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	667					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)	p.E667*(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TGAGCTCTCTGAGATGACCGA	0.522																																							uc001cmg.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1999-2001)GAG>TAG		kinesin family member 2C							66.0	57.0	60.0					1																	45232525		2203	4300	6503	SO:0001587	stop_gained	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45232525G>T	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.1999G>T	1.37:g.45232525G>T	ENSP00000361298:p.Glu667*					KIF2C_uc010olb.1_Nonsense_Mutation_p.E626*|KIF2C_uc010olc.1_Nonsense_Mutation_p.E554*|KIF2C_uc001cmh.3_Nonsense_Mutation_p.E613*	p.E667*	NM_006845	NP_006836	Q99661	KIF2C_HUMAN			20	2114	+	Acute lymphoblastic leukemia(166;0.155)		667					B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Nonsense_Mutation	SNP	ENST00000372224.4	37	c.1999G>T	CCDS512.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982966	0.93044	.	.	ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	.	.	.	5.55	5.55	0.83447	.	0.250677	0.39083	N	0.001474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	15.3733	0.74584	0.0:0.1389:0.8611:0.0	.	.	.	.	X	667;626;554;613	.	ENSP00000361291:E613X	E	+	1	0	KIF2C	45005112	1.000000	0.71417	0.999000	0.59377	0.335000	0.28730	5.522000	0.67092	2.774000	0.95407	0.563000	0.77884	GAG		0.522	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		20	25	1	0	3.5997e-14	0.002299	5.10787e-14	20	25				
MUTYH	4595	broad.mit.edu	37	1	45797911	45797911	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:45797911G>T	ENST00000372098.3	-	10	984	c.851C>A	c.(850-852)gCc>gAc	p.A284D	MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000355498.2_Missense_Mutation_p.A259D|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000372115.3_Missense_Mutation_p.A273D|MUTYH_ENST00000372110.3_Missense_Mutation_p.A274D|MUTYH_ENST00000456914.2_Missense_Mutation_p.A259D|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000448481.1_Missense_Mutation_p.A270D|MUTYH_ENST00000450313.1_Missense_Mutation_p.A287D|MUTYH_ENST00000354383.6_Missense_Mutation_p.A260D|MUTYH_ENST00000528013.2_Missense_Mutation_p.A273D|MUTYH_ENST00000372104.1_Missense_Mutation_p.A259D|MUTYH_ENST00000372100.5_Missense_Mutation_p.A270D			Q9UIF7	MUTYH_HUMAN	mutY homolog	284					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)	p.A284D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ACACACTGTGGCCCCTAGCTC	0.622			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																														uc001cnm.2		NA	yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			1	Substitution - Missense(1)		lung(1)		0						c.(850-852)GCC>GAC	BER_DNA_glycosylases	mutY homolog isoform 1							39.0	41.0	41.0					1																	45797911		2203	4300	6503	SO:0001583	missense	4595	MUTYH-associated_polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45797911G>T	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.851C>A	1.37:g.45797911G>T	ENSP00000361170:p.Ala284Asp					MUTYH_uc009vxn.2_Missense_Mutation_p.A109D|MUTYH_uc001cnf.2_Missense_Mutation_p.A259D|MUTYH_uc009vxo.2_Missense_Mutation_p.A259D|MUTYH_uc001cng.2_Missense_Mutation_p.A270D|MUTYH_uc001cnj.2_Missense_Mutation_p.A167D|MUTYH_uc001cni.2_Missense_Mutation_p.A259D|MUTYH_uc001cnh.2_Missense_Mutation_p.A260D|MUTYH_uc001cno.2_Missense_Mutation_p.A167D|MUTYH_uc001cnk.2_Missense_Mutation_p.A144D|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.A273D|MUTYH_uc009vxp.2_Missense_Mutation_p.A287D|MUTYH_uc001cnn.2_Missense_Mutation_p.A274D	p.A284D	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN			10	1067	-	Acute lymphoblastic leukemia(166;0.155)		284					D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	ENST00000372098.3	37	c.851C>A	CCDS520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.758072|4.758072	0.89843|0.89843	.|.	.|.	ENSG00000132781|ENSG00000132781	ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000450313;ENST00000372100;ENST00000525481;ENST00000412971;ENST00000435155|ENST00000529892	D;D;D;D;D;D;D;D;D;D;D;D|.	0.95622|.	-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-3.76|.	5.51|5.51	5.51|5.51	0.81932|0.81932	HhH-GPD domain (1);DNA glycosylase (1);Helix-turn-helix, base-excision DNA repair, C-terminal (1);|.	0.050109|.	0.85682|.	D|.	0.000000|.	D|D	0.91348|0.91348	0.7271|0.7271	H|H	0.99011|0.99011	4.4|4.4	0.80722|0.80722	D|D	1|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|.	0.87578|.	0.995;0.995;0.998;0.995;0.995;0.988;0.995|.	D|D	0.94642|0.94642	0.7831|0.7831	10|5	0.87932|.	D|.	0|.	-21.8824|-21.8824	19.4191|19.4191	0.94713|0.94713	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	287;284;274;284;273;167;260|.	E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28|.	.;.;.;MUTYH_HUMAN;.;.;.|.	D|T	259;270;259;260;259;284;274;273;287;270;131;131;270|14	ENSP00000361176:A259D;ENSP00000409718:A270D;ENSP00000407590:A259D;ENSP00000346354:A260D;ENSP00000347685:A259D;ENSP00000361170:A284D;ENSP00000361182:A274D;ENSP00000361187:A273D;ENSP00000408176:A287D;ENSP00000361172:A270D;ENSP00000410263:A131D;ENSP00000403655:A270D|.	ENSP00000346354:A260D|.	A|P	-|-	2|1	0|0	MUTYH|MUTYH	45570498|45570498	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	9.476000|9.476000	0.97823|0.97823	2.586000|2.586000	0.87340|0.87340	0.563000|0.563000	0.77884|0.77884	GCC|CCA		0.622	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		10	44	1	0	0.000673444	0.008291	0.000723852	10	44				
TMEM69	51249	broad.mit.edu	37	1	46159475	46159475	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:46159475G>A	ENST00000372025.4	+	3	1799	c.642G>A	c.(640-642)ctG>ctA	p.L214L	TMEM69_ENST00000496366.1_3'UTR|RP11-767N6.7_ENST00000430643.1_RNA	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	214						integral component of membrane (GO:0016021)		p.L214L(1)		kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					TTAAAGCCCTGAGGATAGTAG	0.368																																							uc001cor.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(640-642)CTG>CTA		transmembrane protein 69							99.0	89.0	92.0					1																	46159475		1822	4080	5902	SO:0001819	synonymous_variant	51249					integral to membrane		g.chr1:46159475G>A	BC040289, BC013608	CCDS41325.1	1p34.1	2008-02-05	2005-08-17	2005-08-17	ENSG00000159596	ENSG00000159596			28035	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 154"""	C1orf154			Standard	NM_016486		Approved	FLJ21029	uc001cor.1	Q5SWH9	OTTHUMG00000040993	ENST00000372025.4:c.642G>A	1.37:g.46159475G>A							p.L214L	NM_016486	NP_057570	Q5SWH9	TMM69_HUMAN			3	838	+	Acute lymphoblastic leukemia(166;0.155)		214					Q3SWW5|Q7Z2G0|Q9P0P9	Silent	SNP	ENST00000372025.4	37	c.642G>A	CCDS41325.1																																																																																				0.368	TMEM69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098390.1	NM_016486		12	120	0	0	0	0.001855	0	12	120				
IPP	3652	broad.mit.edu	37	1	46206734	46206734	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:46206734C>T	ENST00000396478.3	-	3	665	c.563G>A	c.(562-564)cGa>cAa	p.R188Q		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	188						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.R188Q(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					CTCTTCACTTCGCAAAATTTT	0.393																																							uc001cou.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(562-564)CGA>CAA		intracisternal A particle-promoted polypeptide							172.0	168.0	169.0					1																	46206734		2203	4300	6503	SO:0001583	missense	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46206734C>T	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.563G>A	1.37:g.46206734C>T	ENSP00000379739:p.Arg188Gln					IPP_uc001cos.3_Missense_Mutation_p.R188Q	p.R188Q	NM_005897	NP_005888	Q9Y573	IPP_HUMAN			3	830	-	Acute lymphoblastic leukemia(166;0.155)		188					A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	c.563G>A	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.800033	0.50208	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.68331	-0.32;-0.32	5.19	5.19	0.71726	BTB/Kelch-associated (2);	0.058952	0.64402	D	0.000002	T	0.51770	0.1694	L	0.28344	0.845	0.49130	D	0.999753	B;B	0.24533	0.006;0.105	B;B	0.17979	0.006;0.02	T	0.47898	-0.9081	10	0.31617	T	0.26	.	12.4467	0.55654	0.0:0.9225:0.0:0.0775	.	188;188	Q9Y573;A2A6V3	IPP_HUMAN;.	Q	188	ENSP00000353024:R188Q;ENSP00000379739:R188Q	ENSP00000353024:R188Q	R	-	2	0	IPP	45979321	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.748000	0.55142	2.586000	0.87340	0.655000	0.94253	CGA		0.393	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		22	167	0	0	0	0.002299	0	22	167				
RAD54L	8438	broad.mit.edu	37	1	46727024	46727024	+	Silent	SNP	G	G	A	rs58878309		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:46727024G>A	ENST00000371975.4	+	8	1532	c.858G>A	c.(856-858)caG>caA	p.Q286Q	RAD54L_ENST00000473251.1_3'UTR|RAD54L_ENST00000442598.1_Silent_p.Q286Q	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	286	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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.Q286Q(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)		GAGTCCTCCAGAAAGGAAGTG	0.483								Direct reversal of damage;Homologous recombination																															uc009vye.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(856-858)CAG>CAA	Direct_reversal_of_damage|Homologous_recombination	RAD54-like protein							118.0	99.0	105.0					1																	46727024		2203	4300	6503	SO:0001819	synonymous_variant	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46727024G>A	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.858G>A	1.37:g.46727024G>A						RAD54L_uc001cpl.2_Silent_p.Q286Q|RAD54L_uc001cpm.1_Silent_p.Q106Q	p.Q286Q	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	9	972	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	286			Helicase ATP-binding.		Q5TE31|Q6IUY3	Silent	SNP	ENST00000371975.4	37	c.858G>A	CCDS532.1																																																																																				0.483	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		10	78	0	0	0	0.008291	0	10	78				
CYP4Z1	199974	broad.mit.edu	37	1	47582406	47582406	+	Splice_Site	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:47582406T>A	ENST00000334194.3	+	11	1352		c.e11+2		CYP4Z1_ENST00000471598.1_Splice_Site|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.?(1)		cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TGGATTAAGGTAAAGACTCAA	0.428																																							uc001cqu.1		NA																	1	Unknown(1)		lung(1)	skin(1)	1						c.e11+2		cytochrome P450 4Z1							53.0	54.0	54.0					1																	47582406		2203	4299	6502	SO:0001630	splice_region_variant	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47582406T>A	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1349+2T>A	1.37:g.47582406T>A							p.R450_splice	NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN			11	1352	+								Q5VVE4	Splice_Site	SNP	ENST00000334194.3	37	c.1349_splice	CCDS545.1	.	.	.	.	.	.	.	.	.	.	t	14.44	2.537323	0.45176	.	.	ENSG00000186160	ENST00000334194	.	.	.	2.64	2.64	0.31445	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7137	0.40260	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP4Z1	47354993	0.999000	0.42202	0.317000	0.25265	0.911000	0.54048	4.688000	0.61715	1.098000	0.41479	0.225000	0.17782	.		0.428	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134	Intron	5	34	0	0	0	0.001168	0	5	34				
SLC5A9	200010	broad.mit.edu	37	1	48708153	48708153	+	Missense_Mutation	SNP	C	C	T	rs138580488		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:48708153C>T	ENST00000438567.2	+	13	1754	c.1702C>T	c.(1702-1704)Cgg>Tgg	p.R568W	SLC5A9_ENST00000236495.5_Missense_Mutation_p.R593W|SLC5A9_ENST00000533824.1_Missense_Mutation_p.R589W|SLC5A9_ENST00000471020.1_3'UTR	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	568					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R586W(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						ATGGTGGACTCGGAACTGCCC	0.597																																							uc001cro.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1702-1704)CGG>TGG		solute carrier family 5 (sodium/glucose		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	79.0	80.0	79.0		1702,1777	1.3	0.0	1	dbSNP_134	79	0,8600		0,0,4300	no	missense,missense	SLC5A9	NM_001011547.2,NM_001135181.1	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	568/682,593/707	48708153	1,13005	2203	4300	6503	SO:0001583	missense	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48708153C>T	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1702C>T	1.37:g.48708153C>T	ENSP00000401730:p.Arg568Trp					SLC5A9_uc001crn.2_Missense_Mutation_p.R593W|SLC5A9_uc010omt.1_Missense_Mutation_p.R582W|SLC5A9_uc001crp.2_Missense_Mutation_p.R235W|SLC5A9_uc010omu.1_Missense_Mutation_p.R235W|SLC5A9_uc009vyt.1_RNA	p.R568W	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN			13	1754	+			568			Cytoplasmic (Potential).		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	c.1702C>T	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462894	0.43736	2.27E-4	0.0	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.82984	-1.67;-1.67;-1.67	4.42	1.3	0.21679	.	0.000000	0.85682	D	0.000000	D	0.87688	0.6240	M	0.72894	2.215	0.22001	N	0.999425	D;D;D	0.76494	0.999;0.997;0.997	P;P;D	0.63793	0.857;0.881;0.918	T	0.80448	-0.1378	10	0.62326	D	0.03	.	11.233	0.48923	0.6456:0.3544:0.0:0.0	.	589;568;593	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	W	589;568;593	ENSP00000431900:R589W;ENSP00000401730:R568W;ENSP00000236495:R593W	ENSP00000236495:R593W	R	+	1	2	SLC5A9	48480740	0.758000	0.28405	0.008000	0.14137	0.021000	0.10359	2.566000	0.45948	0.079000	0.16929	-0.181000	0.13052	CGG		0.597	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		23	123	0	0	0	0.003954	0	23	123				
C8A	731	broad.mit.edu	37	1	57349153	57349153	+	Splice_Site	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:57349153G>T	ENST00000361249.3	+	6	750		c.e6-1			NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide						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)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TTTTTTTTCAGGCCCTGGCAG	0.318																																							uc001cyo.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.e6-1		complement component 8, alpha polypeptide							57.0	60.0	59.0					1																	57349153		2203	4299	6502	SO:0001630	splice_region_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57349153G>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.655-1G>T	1.37:g.57349153G>T							p.A219_splice	NM_000562	NP_000553	P07357	CO8A_HUMAN			6	787	+								A2RUI4|A2RUI5|Q13668|Q9H130	Splice_Site	SNP	ENST00000361249.3	37	c.655_splice	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863148	0.71949	.	.	ENSG00000157131	ENST00000361249	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1466	0.98079	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C8A	57121741	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.399000	0.79935	2.779000	0.95612	0.591000	0.81541	.		0.318	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562	Intron	18	62	1	0	4.96729e-08	0.008871	6.13506e-08	18	62				
C8B	732	broad.mit.edu	37	1	57420396	57420396	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:57420396T>G	ENST00000371237.4	-	4	562	c.496A>C	c.(496-498)Atg>Ctg	p.M166L	C8B_ENST00000543257.1_Missense_Mutation_p.M114L|C8B_ENST00000535057.1_Missense_Mutation_p.M104L	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	166	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				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.M166L(1)		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						TATTGGTCCATTTCATGCTGA	0.453																																							uc001cyp.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(496-498)ATG>CTG		complement component 8, beta polypeptide							181.0	149.0	160.0					1																	57420396		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57420396T>G	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.496A>C	1.37:g.57420396T>G	ENSP00000360281:p.Met166Leu					C8B_uc010oon.1_Missense_Mutation_p.M104L|C8B_uc010ooo.1_Missense_Mutation_p.M114L	p.M166L	NM_000066	NP_000057	P07358	CO8B_HUMAN			4	563	-			166			MACPF.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.496A>C	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.847238	0.32606	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.25579	1.96;1.97;1.79	5.87	-0.691	0.11305	Membrane attack complex component/perforin (MACPF) domain (1);	0.224071	0.53938	D	0.000047	T	0.19366	0.0465	M	0.67397	2.05	0.36501	D	0.869012	B;B;B	0.25169	0.063;0.119;0.037	B;B;B	0.22753	0.006;0.041;0.01	T	0.17289	-1.0374	10	0.12103	T	0.63	-14.1684	6.2926	0.21069	0.0:0.258:0.1195:0.6225	.	114;104;166	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	L	166;114;104	ENSP00000360281:M166L;ENSP00000442548:M114L;ENSP00000440113:M104L	ENSP00000360281:M166L	M	-	1	0	C8B	57192984	0.979000	0.34478	0.916000	0.36221	0.996000	0.88848	1.798000	0.38814	-0.007000	0.14345	0.533000	0.62120	ATG		0.453	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			21	115	0	0	0	0.002299	0	21	115				
DOCK7	85440	broad.mit.edu	37	1	62979532	62979532	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:62979532C>A	ENST00000340370.5	-	31	3898	c.3881G>T	c.(3880-3882)aGt>aTt	p.S1294I	DOCK7_ENST00000251157.5_Missense_Mutation_p.S1325I	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1325					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.S1294I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AAGGCTTCGACTTGATTCTGC	0.403																																							uc001daq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3973-3975)AGT>ATT		dedicator of cytokinesis 7							106.0	113.0	111.0					1																	62979532		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62979532C>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3881G>T	1.37:g.62979532C>A	ENSP00000340742:p.Ser1294Ile					DOCK7_uc001dan.2_Missense_Mutation_p.S1186I|DOCK7_uc001dao.2_Missense_Mutation_p.S1186I|DOCK7_uc001dap.2_Missense_Mutation_p.S1294I|DOCK7_uc001dam.2_Missense_Mutation_p.S505I|DOCK7_uc010oov.1_Intron	p.S1325I	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			32	4008	-			1325					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.3974G>T	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.852208|4.852208	0.91355|0.91355	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370	.|T;T	.|0.26373	.|1.74;1.74	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50871|0.50871	0.1641|0.1641	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D;D;D;P	.|0.76494	.|0.996;0.998;0.999;0.991;0.855	.|D;D;D;D;P	.|0.76575	.|0.965;0.973;0.988;0.949;0.79	T|T	0.51965|0.51965	-0.8638|-0.8638	5|10	.|0.87932	.|D	.|0	.|.	19.1592|19.1592	0.93524|0.93524	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1325;1294;1294;1294;1325	.|Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|.;.;.;.;.	N|I	496|1325;1325;1294	.|ENSP00000251157:S1325I;ENSP00000340742:S1294I	.|ENSP00000251157:S1325I	K|S	-|-	3|2	2|0	DOCK7|DOCK7	62752120|62752120	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.776000|7.776000	0.85560|0.85560	2.586000|2.586000	0.87340|0.87340	0.563000|0.563000	0.77884|0.77884	AAG|AGT		0.403	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		11	104	1	0	0.000978159	0.000978	0.00104824	11	104				
LRRC7	57554	broad.mit.edu	37	1	70488916	70488916	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:70488916G>C	ENST00000035383.5	+	15	1569	c.1539G>C	c.(1537-1539)caG>caC	p.Q513H	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000310961.5_Missense_Mutation_p.Q518H|RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	513						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.Q513H(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						GTGATCAGCAGATCCAAGATA	0.582																																							uc001dep.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(1537-1539)CAG>CAC		leucine rich repeat containing 7							90.0	82.0	85.0					1																	70488916		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70488916G>C		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.1539G>C	1.37:g.70488916G>C	ENSP00000035383:p.Gln513His					LRRC7_uc009wbg.2_Intron	p.Q513H	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			15	1569	+			513					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1539G>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.370430	0.42003	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.37584	1.19;1.26	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000016	T	0.12347	0.0300	N	0.08118	0	0.80722	D	1	P	0.37864	0.61	B	0.35550	0.205	T	0.07424	-1.0773	10	0.56958	D	0.05	.	15.6849	0.77402	0.0:0.0:1.0:0.0	.	513	Q96NW7	LRRC7_HUMAN	H	518;513;336	ENSP00000309245:Q518H;ENSP00000035383:Q513H	ENSP00000035383:Q513H	Q	+	3	2	LRRC7	70261504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.453000	0.60061	2.775000	0.95449	0.585000	0.79938	CAG		0.582	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		10	69	0	0	0	0.006214	0	10	69				
LRRC7	57554	broad.mit.edu	37	1	70505055	70505055	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:70505055G>T	ENST00000035383.5	+	19	3464	c.3434G>T	c.(3433-3435)aGa>aTa	p.R1145I	LRRC7_ENST00000310961.5_Missense_Mutation_p.R1150I|LRRC7_ENST00000415775.2_Missense_Mutation_p.R429I	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1145						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.R1145I(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						AGGTACGGCAGACCCCCATAT	0.542																																							uc001dep.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3433-3435)AGA>ATA		leucine rich repeat containing 7							63.0	66.0	65.0					1																	70505055		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70505055G>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.3434G>T	1.37:g.70505055G>T	ENSP00000035383:p.Arg1145Ile					LRRC7_uc009wbg.2_Missense_Mutation_p.R429I|LRRC7_uc001deq.2_Missense_Mutation_p.R386I	p.R1145I	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	3464	+			1145					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3434G>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359398	0.41801	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.38401	1.14;1.21;2.3	5.81	5.81	0.92471	.	0.137650	0.48767	D	0.000174	T	0.49457	0.1558	L	0.50333	1.59	0.80722	D	1	D;D;P	0.69078	0.994;0.997;0.48	P;D;B	0.80764	0.901;0.994;0.176	T	0.42783	-0.9431	10	0.56958	D	0.05	.	19.0772	0.93168	0.0:0.0:1.0:0.0	.	429;1145;1145	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	I	1150;1145;429;968	ENSP00000309245:R1150I;ENSP00000035383:R1145I;ENSP00000394867:R429I	ENSP00000035383:R1145I	R	+	2	0	LRRC7	70277643	0.999000	0.42202	0.191000	0.23289	0.019000	0.09904	6.750000	0.74888	2.752000	0.94435	0.557000	0.71058	AGA		0.542	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		12	108	1	0	2.80697e-09	0.000978	3.59039e-09	12	108				
ERICH3	127254	broad.mit.edu	37	1	75037434	75037434	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:75037434C>A	ENST00000326665.5	-	14	4178	c.3960G>T	c.(3958-3960)atG>atT	p.M1320I	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1320	Glu-rich.							p.M1320I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTCTCCTTCCATGTCCCCGT	0.557																																							uc001dgg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3958-3960)ATG>ATT		hypothetical protein LOC127254							276.0	244.0	255.0					1																	75037434		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037434C>A																												ENST00000326665.5:c.3960G>T	1.37:g.75037434C>A	ENSP00000322609:p.Met1320Ile						p.M1320I	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4179	-			1320			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3960G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	0.897	-0.723424	0.03158	.	.	ENSG00000178965	ENST00000326665	T	0.10860	2.83	1.58	0.493	0.16878	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47497	-0.9113	9	0.35671	T	0.21	.	3.6535	0.08212	0.0:0.5188:0.0:0.4812	.	1320	Q5RHP9	CA173_HUMAN	I	1320	ENSP00000322609:M1320I	ENSP00000322609:M1320I	M	-	3	0	C1orf173	74810022	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.087000	0.11215	0.459000	0.27016	0.462000	0.41574	ATG		0.557	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			45	160	1	0	4.18559e-23	0.00361	6.59046e-23	45	160				
SLC44A5	204962	broad.mit.edu	37	1	75684224	75684224	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:75684224C>A	ENST00000370855.5	-	17	1593	c.1480G>T	c.(1480-1482)Gat>Tat	p.D494Y	SLC44A5_ENST00000535611.1_Missense_Mutation_p.D364Y|SLC44A5_ENST00000370859.3_Missense_Mutation_p.D494Y	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	494					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D494Y(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GGGATGTCATCAGGTTTTTTC	0.423																																							uc001dgu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1480-1482)GAT>TAT		solute carrier family 44, member 5 isoform A							175.0	162.0	167.0					1																	75684224		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75684224C>A	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1480G>T	1.37:g.75684224C>A	ENSP00000359892:p.Asp494Tyr					SLC44A5_uc001dgt.2_Missense_Mutation_p.D494Y|SLC44A5_uc001dgs.2_Missense_Mutation_p.D452Y|SLC44A5_uc001dgr.2_Missense_Mutation_p.D452Y|SLC44A5_uc010oqz.1_Missense_Mutation_p.D533Y|SLC44A5_uc010ora.1_Missense_Mutation_p.D488Y|SLC44A5_uc010orb.1_Missense_Mutation_p.D364Y	p.D494Y	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			17	1624	-			494			Extracellular (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1480G>T	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	7.603	0.673259	0.14776	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.14893	2.88;2.88;2.47	5.6	3.64	0.41730	.	0.550372	0.21196	N	0.078552	T	0.22781	0.0550	M	0.79258	2.445	0.09310	N	1	B;B;B;D;P	0.52996	0.221;0.171;0.447;0.957;0.929	B;B;B;P;P	0.62740	0.216;0.229;0.216;0.906;0.799	T	0.03493	-1.1031	10	0.56958	D	0.05	-5.032	7.8175	0.29269	0.121:0.6939:0.1174:0.0677	.	488;533;494;494;533	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	Y	494;533;494;364;487	ENSP00000359896:D494Y;ENSP00000359892:D494Y;ENSP00000443090:D364Y	ENSP00000359892:D494Y	D	-	1	0	SLC44A5	75456812	0.022000	0.18835	0.996000	0.52242	0.095000	0.18619	0.639000	0.24690	1.522000	0.49001	-0.140000	0.14226	GAT		0.423	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		16	164	1	0	1.5739e-10	0.004007	2.05714e-10	16	164				
MSH4	4438	broad.mit.edu	37	1	76313920	76313920	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:76313920C>T	ENST00000263187.3	+	8	1293	c.1189C>T	c.(1189-1191)Cag>Tag	p.Q397*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	397					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.Q397*(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGATACAGAGCAGCTTCTTTC	0.264								Mismatch excision repair (MMR)																															uc001dhd.1		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(3)|ovary(2)	5						c.(1189-1191)CAG>TAG	MMR	mutS homolog 4							84.0	88.0	87.0					1																	76313920		2201	4287	6488	SO:0001587	stop_gained	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76313920C>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1189C>T	1.37:g.76313920C>T	ENSP00000263187:p.Gln397*						p.Q397*	NM_002440	NP_002431	O15457	MSH4_HUMAN			8	1230	+			397					Q5T4U6|Q8NEB3|Q9UNP8	Nonsense_Mutation	SNP	ENST00000263187.3	37	c.1189C>T	CCDS670.1	.	.	.	.	.	.	.	.	.	.	C	38	6.813606	0.97857	.	.	ENSG00000057468	ENST00000263187	.	.	.	5.28	5.28	0.74379	.	0.211618	0.41194	D	0.000940	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-41.1196	17.0516	0.86520	0.0:1.0:0.0:0.0	.	.	.	.	X	397	.	ENSP00000263187:Q397X	Q	+	1	0	MSH4	76086508	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.873000	0.63057	2.629000	0.89072	0.643000	0.83706	CAG		0.264	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		5	81	0	0	0	0.000602	0	5	81				
MSH4	4438	broad.mit.edu	37	1	76363740	76363740	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:76363740A>T	ENST00000263187.3	+	18	2608	c.2504A>T	c.(2503-2505)aAg>aTg	p.K835M		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	835					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.K835M(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AAACTTTCTAAGGGACTCACA	0.303								Mismatch excision repair (MMR)																															uc001dhd.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(2503-2505)AAG>ATG	MMR	mutS homolog 4							75.0	81.0	79.0					1																	76363740		2200	4294	6494	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76363740A>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.2504A>T	1.37:g.76363740A>T	ENSP00000263187:p.Lys835Met						p.K835M	NM_002440	NP_002431	O15457	MSH4_HUMAN			18	2545	+			835					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.2504A>T	CCDS670.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374030	0.61735	.	.	ENSG00000057468	ENST00000263187	D	0.86366	-2.11	5.66	4.54	0.55810	DNA mismatch repair protein MutS, C-terminal (2);	0.177297	0.49305	D	0.000151	D	0.85340	0.5674	L	0.49778	1.585	0.29517	N	0.853799	P	0.51791	0.948	P	0.59948	0.866	T	0.81959	-0.0694	10	0.72032	D	0.01	-11.6136	10.8199	0.46599	0.9251:0.0:0.0749:0.0	.	835	O15457	MSH4_HUMAN	M	835	ENSP00000263187:K835M	ENSP00000263187:K835M	K	+	2	0	MSH4	76136328	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.045000	0.57368	0.982000	0.38575	0.533000	0.62120	AAG		0.303	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		11	96	0	0	0	0.000978	0	11	96				
ASB17	127247	broad.mit.edu	37	1	76397818	76397818	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:76397818T>A	ENST00000284142.6	-	1	298	c.159A>T	c.(157-159)aaA>aaT	p.K53N		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	53					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.K53N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ACCTCAGAATTTTTGCCAGTG	0.398																																							uc001dhe.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(157-159)AAA>AAT		ankyrin repeat and SOCS box-containing 17							148.0	138.0	141.0					1																	76397818		2203	4300	6503	SO:0001583	missense	127247				intracellular signal transduction			g.chr1:76397818T>A	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.159A>T	1.37:g.76397818T>A	ENSP00000284142:p.Lys53Asn					ASB17_uc001dhf.1_RNA	p.K53N	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN			1	299	-			53					B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	c.159A>T	CCDS671.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521178	0.44866	.	.	ENSG00000154007	ENST00000284142	T	0.41065	1.01	5.97	2.2	0.27929	.	0.093954	0.46442	N	0.000292	T	0.11922	0.0290	L	0.27053	0.805	0.33443	D	0.582648	B	0.17465	0.022	B	0.14578	0.011	T	0.04360	-1.0957	10	0.87932	D	0	.	5.3478	0.16018	0.0:0.1593:0.1478:0.6929	.	53	Q8WXJ9	ASB17_HUMAN	N	53	ENSP00000284142:K53N	ENSP00000284142:K53N	K	-	3	2	ASB17	76170406	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	0.450000	0.21762	0.455000	0.26910	0.533000	0.62120	AAA		0.398	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		40	110	0	0	0	0.009718	0	40	110				
AK5	26289	broad.mit.edu	37	1	77752625	77752625	+	Splice_Site	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:77752625G>T	ENST00000354567.2	+	2	323		c.e2-1		AK5_ENST00000317704.4_Splice_Site|AK5_ENST00000344720.5_Intron	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5						ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)	p.?(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TTATATTTCAGAGCCTTTTGA	0.284																																							uc001dhn.2		NA																	2	Unknown(2)		lung(2)	skin(1)	1						c.e2-1		adenylate kinase 5 isoform 1							57.0	60.0	59.0					1																	77752625		2201	4299	6500	SO:0001630	splice_region_variant	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77752625G>T	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.61-1G>T	1.37:g.77752625G>T						AK5_uc001dho.2_Intron|AK5_uc001dhm.1_Splice_Site_p.S21_splice	p.S21_splice	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN			2	318	+								Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Splice_Site	SNP	ENST00000354567.2	37	c.61_splice	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394874	0.62066	.	.	ENSG00000154027	ENST00000354567	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9742	0.97299	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AK5	77525213	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	9.406000	0.97321	2.809000	0.96659	0.650000	0.86243	.		0.284	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858	Intron	15	69	1	0	6.72482e-11	0.003163	8.85408e-11	15	69				
IFI44	10561	broad.mit.edu	37	1	79120848	79120848	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:79120848C>G	ENST00000370747.4	+	4	729	c.644C>G	c.(643-645)aCg>aGg	p.T215R	IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_5'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	215					response to virus (GO:0009615)	cytoplasm (GO:0005737)		p.T215R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						GGGCATGTAACGCATCAGGCT	0.453																																							uc001dip.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(643-645)ACG>AGG		interferon-induced, hepatitis C-associated							131.0	124.0	126.0					1																	79120848		2203	4300	6503	SO:0001583	missense	10561				response to virus	cytoplasm		g.chr1:79120848C>G	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.644C>G	1.37:g.79120848C>G	ENSP00000359783:p.Thr215Arg					IFI44_uc010orr.1_Missense_Mutation_p.T215R|IFI44_uc010ors.1_5'UTR	p.T215R	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN			4	768	+			215					B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	ENST00000370747.4	37	c.644C>G	CCDS688.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335432	0.60853	.	.	ENSG00000137965	ENST00000370747;ENST00000438486	T;T	0.32515	1.45;1.45	3.85	0.831	0.18860	.	0.419691	0.24206	N	0.040577	T	0.29914	0.0748	M	0.76727	2.345	0.26461	N	0.975446	D;D	0.69078	0.997;0.997	D;D	0.63597	0.916;0.916	T	0.07366	-1.0776	10	0.87932	D	0	.	4.4724	0.11719	0.1775:0.6211:0.0:0.2015	.	215;215	B7ZB11;Q8TCB0	.;IFI44_HUMAN	R	215;91	ENSP00000359783:T215R;ENSP00000399477:T91R	ENSP00000359783:T215R	T	+	2	0	IFI44	78893436	0.082000	0.21442	0.000000	0.03702	0.340000	0.28889	1.399000	0.34566	0.184000	0.20083	0.563000	0.77884	ACG		0.453	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		25	67	0	0	0	0.008361	0	25	67				
LPHN2	23266	broad.mit.edu	37	1	82409232	82409232	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:82409232C>A	ENST00000370728.1	+	8	1622	c.977C>A	c.(976-978)tCa>tAa	p.S326*	LPHN2_ENST00000370727.1_Nonsense_Mutation_p.S326*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.S326*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.S326*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.S326*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.S326*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.S326*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.S326*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.S330*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.S326*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.S326*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.S326*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.S326*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.S326*			O95490	LPHN2_HUMAN	latrophilin 2	326	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.S326*(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GTGGTTAGGTCAGTTTATCAA	0.408																																							uc001dit.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(976-978)TCA>TAA		latrophilin 2 precursor							124.0	123.0	124.0					1																	82409232		2203	4300	6503	SO:0001587	stop_gained	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82409232C>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.977C>A	1.37:g.82409232C>A	ENSP00000359763:p.Ser326*					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Nonsense_Mutation_p.S326*|LPHN2_uc001div.2_Nonsense_Mutation_p.S326*|LPHN2_uc009wcd.2_Nonsense_Mutation_p.S326*	p.S326*	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	6	1158	+			326			Extracellular (Potential).|Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Nonsense_Mutation	SNP	ENST00000370728.1	37	c.977C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.763631|10.763631	0.99463|0.99463	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.31575|.	0.0801|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33007|.	-0.9885|.	3|.	.|0.02654	.|T	.|1	.|.	19.4847|19.4847	0.95025|0.95025	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	194|330;326;326;326;326;326;326;326;326;326;326;326;326;326	.|.	.|ENSP00000271029:S326X	Q|S	+|+	1|2	0|0	LPHN2|LPHN2	82181820|82181820	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.423000|7.423000	0.80229|0.80229	2.589000|2.589000	0.87451|0.87451	0.557000|0.557000	0.71058|0.71058	CAG|TCA		0.408	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		13	118	1	0	4.3838e-07	0.001855	5.25178e-07	13	118				
HFM1	164045	broad.mit.edu	37	1	91728125	91728125	+	Silent	SNP	C	C	A	rs148254635		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:91728125C>A	ENST00000370425.3	-	37	4097	c.3999G>T	c.(3997-3999)tcG>tcT	p.S1333S	HFM1_ENST00000370424.3_Silent_p.S1012S|HFM1_ENST00000462405.1_5'UTR|Y_RNA_ENST00000384090.1_RNA|HFM1_ENST00000294696.5_Missense_Mutation_p.R535L	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1333					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.S1333S(2)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAGAAATATCCGACATCTCAT	0.303																																							uc001doa.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(3997-3999)TCG>TCT		HFM1 protein							79.0	77.0	78.0					1																	91728125		2203	4300	6503	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91728125C>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3999G>T	1.37:g.91728125C>A						HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Silent_p.S1012S|HFM1_uc001dob.3_Silent_p.S521S	p.S1333S	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	37	4099	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1333					B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	c.3999G>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941082	0.34283	.	.	ENSG00000162669	ENST00000294696;ENST00000430465	T	0.55588	0.51	5.01	3.87	0.44632	.	.	.	.	.	T	0.27663	0.0680	.	.	.	0.23435	N	0.997689	.	.	.	.	.	.	T	0.16364	-1.0405	6	0.35671	T	0.21	.	7.3885	0.26897	0.0:0.0981:0.0:0.9019	.	.	.	.	L	535;545	ENSP00000294696:R535L	ENSP00000294696:R535L	R	-	2	0	HFM1	91500713	0.942000	0.31987	0.790000	0.31976	0.617000	0.37484	0.602000	0.24134	0.938000	0.37419	-0.340000	0.08031	CGG		0.303	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		15	58	1	0	1.15088e-07	0.004007	1.40852e-07	15	58				
HFM1	164045	broad.mit.edu	37	1	91781705	91781705	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:91781705T>C	ENST00000370425.3	-	27	3033	c.2935A>G	c.(2935-2937)Aaa>Gaa	p.K979E	HFM1_ENST00000370424.3_Missense_Mutation_p.K658E|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.K211E	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	979	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.K979E(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ACAGTTTCTTTTATCTGGGTT	0.264																																							uc001doa.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2935-2937)AAA>GAA		HFM1 protein							37.0	40.0	39.0					1																	91781705		2198	4270	6468	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91781705T>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2935A>G	1.37:g.91781705T>C	ENSP00000359454:p.Lys979Glu					HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.K658E|HFM1_uc001dob.3_Missense_Mutation_p.K167E|HFM1_uc010osv.1_Missense_Mutation_p.K663E	p.K979E	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	27	3035	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	979			SEC63.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.2935A>G	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457724	0.63401	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	T;T;T	0.60797	0.16;0.16;0.16	5.25	5.25	0.73442	Sec63 domain (2);	0.053594	0.64402	D	0.000001	T	0.66025	0.2748	M	0.79475	2.455	0.38450	D	0.946931	D;D;P	0.55800	0.973;0.97;0.87	P;P;P	0.60286	0.783;0.872;0.681	T	0.69213	-0.5204	10	0.41790	T	0.15	.	14.8146	0.70024	0.0:0.0:0.0:1.0	.	658;190;979	A6NGI5;B1B0B5;A2PYH4	.;.;HFM1_HUMAN	E	979;211;658;663	ENSP00000359454:K979E;ENSP00000294696:K211E;ENSP00000359453:K658E	ENSP00000294696:K211E	K	-	1	0	HFM1	91554293	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	5.099000	0.64554	1.992000	0.58205	0.377000	0.23210	AAA		0.264	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		8	54	0	0	0	0.006214	0	8	54				
GFI1	2672	broad.mit.edu	37	1	92941703	92941703	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:92941703G>A	ENST00000370332.1	-	7	1470	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	GFI1_ENST00000294702.5_Silent_p.I384I|GFI1_ENST00000427103.1_Silent_p.I384I	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	384					auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.I384I(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		GGCTGTGGGTGATGAGGTTGG	0.607																																							uc001dou.3		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(1150-1152)ATC>ATT		growth factor independent 1							75.0	64.0	68.0					1																	92941703		2203	4300	6503	SO:0001819	synonymous_variant	2672				negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr1:92941703G>A	U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"""Zinc fingers, C2H2-type"""	4237	protein-coding gene	gene with protein product		600871	"""growth factor independent 1"""	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.1152C>T	1.37:g.92941703G>A						GFI1_uc001dov.3_Silent_p.I384I|GFI1_uc001dow.3_Silent_p.I384I	p.I384I	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)	7	1316	-		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)	384			C2H2-type 5.		Q8N564	Silent	SNP	ENST00000370332.1	37	c.1152C>T	CCDS30773.1																																																																																				0.607	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1	NM_005263		4	13	0	0	0	0.009096	0	4	13				
PLPPR5	163404	broad.mit.edu	37	1	99470110	99470110	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:99470110C>T	ENST00000263177.4	-	1	339	c.118G>A	c.(118-120)Gtg>Atg	p.V40M	RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000534652.1_5'Flank|LPPR5_ENST00000370188.3_Missense_Mutation_p.V40M	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		40						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.V40M(1)									AAGCCCTGCACGTTCACGGTG	0.632																																							uc001dsb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(118-120)GTG>ATG		phosphatidic acid phosphatase type 2d isoform 1							91.0	71.0	78.0					1																	99470110		2203	4300	6503	SO:0001583	missense	163404					integral to membrane	hydrolase activity	g.chr1:99470110C>T																												ENST00000263177.4:c.118G>A	1.37:g.99470110C>T	ENSP00000263177:p.Val40Met					uc001dsd.1_RNA|LPPR5_uc001dsc.2_Missense_Mutation_p.V40M	p.V40M	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN			1	340	-			40					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.118G>A	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.909453	0.52439	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.43294	0.95;0.95	4.36	3.44	0.39384	.	0.062208	0.64402	D	0.000004	T	0.23014	0.0556	L	0.52364	1.645	0.39615	D	0.969948	P;P	0.47677	0.884;0.899	B;B	0.41988	0.325;0.372	T	0.03008	-1.1083	10	0.44086	T	0.13	.	10.9783	0.47480	0.0:0.9056:0.0:0.0944	.	40;40	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	M	40	ENSP00000359207:V40M;ENSP00000263177:V40M	ENSP00000263177:V40M	V	-	1	0	AL161744.1	99242698	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.985000	0.40668	0.939000	0.37446	0.455000	0.32223	GTG		0.632	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			7	40	0	0	0	0.00308	0	7	40				
VCAM1	7412	broad.mit.edu	37	1	101194849	101194849	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:101194849C>A	ENST00000294728.2	+	5	1216	c.1115C>A	c.(1114-1116)cCt>cAt	p.P372H	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.P310H	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	372	Ig-like C2-type 4.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.P372H(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACCCTGAGCCCTGTGAGTTTT	0.512																																							uc001dti.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1114-1116)CCT>CAT		vascular cell adhesion molecule 1 isoform a	Carvedilol(DB01136)						119.0	122.0	121.0					1																	101194849		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101194849C>A	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1115C>A	1.37:g.101194849C>A	ENSP00000294728:p.Pro372His					VCAM1_uc001dtj.2_Intron|VCAM1_uc010ouj.1_Missense_Mutation_p.P310H	p.P372H	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	5	1235	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	372			Ig-like C2-type 4.|Extracellular (Potential).		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.1115C>A	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.147940	0.57151	.	.	ENSG00000162692	ENST00000370119;ENST00000294728	T;T	0.67171	-0.25;2.89	5.41	4.49	0.54785	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.852388	0.10810	N	0.631668	T	0.80308	0.4599	M	0.89601	3.045	0.80722	D	1	D;D	0.60575	0.988;0.983	P;P	0.61592	0.799;0.891	T	0.80788	-0.1226	10	0.45353	T	0.12	-3.6696	16.4034	0.83650	0.0:0.8685:0.1315:0.0	.	310;372	E9PDD1;P19320	.;VCAM1_HUMAN	H	310;372	ENSP00000359137:P310H;ENSP00000294728:P372H	ENSP00000294728:P372H	P	+	2	0	VCAM1	100967437	0.046000	0.20272	0.979000	0.43373	0.630000	0.37929	2.531000	0.45650	1.518000	0.48934	-0.165000	0.13383	CCT		0.512	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		17	162	1	0	0.000958276	0.007413	0.00102898	17	162				
KCND3	3752	broad.mit.edu	37	1	112318702	112318702	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:112318702C>A	ENST00000315987.2	-	8	2444	c.1965G>T	c.(1963-1965)ttG>ttT	p.L655F	KCND3_ENST00000302127.4_Missense_Mutation_p.L636F|KCND3_ENST00000369697.1_Missense_Mutation_p.L636F	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	655					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.L636F(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AGTGGTTTTACAAGGCGGAGA	0.602																																							uc001ebu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1963-1965)TTG>TTT		potassium voltage-gated channel, Shal-related							78.0	71.0	73.0					1																	112318702		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112318702C>A	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1965G>T	1.37:g.112318702C>A	ENSP00000319591:p.Leu655Phe					KCND3_uc001ebv.1_Missense_Mutation_p.L636F	p.L655F	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	8	2445	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	655			Cytoplasmic (Potential).		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.1965G>T	CCDS843.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174268	0.78452	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.97665	-4.48;-4.39;-4.48	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.97748	0.9261	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.986	D	0.98771	1.0728	10	0.87932	D	0	.	19.2561	0.93947	0.0:1.0:0.0:0.0	.	636;655	Q14D71;Q9UK17	.;KCND3_HUMAN	F	636;655;636	ENSP00000358711:L636F;ENSP00000319591:L655F;ENSP00000306923:L636F	ENSP00000306923:L636F	L	-	3	2	KCND3	112120225	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.001000	0.49488	2.645000	0.89757	0.655000	0.94253	TTG		0.602	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		10	84	1	0	3.07112e-06	0.000978	3.56806e-06	10	84				
OLFML3	56944	broad.mit.edu	37	1	114524191	114524191	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:114524191A>T	ENST00000320334.4	+	3	1095	c.1021A>T	c.(1021-1023)Agt>Tgt	p.S341C	OLFML3_ENST00000369551.1_Missense_Mutation_p.S321C|OLFML3_ENST00000393300.2_Missense_Mutation_p.S321C|OLFML3_ENST00000491700.1_3'UTR	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	341	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)		p.S341C(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	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)		CCGTCCTGCCAGTCGGGCCCG	0.592																																							uc001eer.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1021-1023)AGT>TGT		olfactomedin-like 3 precursor							66.0	63.0	64.0					1																	114524191		2203	4300	6503	SO:0001583	missense	56944				multicellular organismal development	extracellular region		g.chr1:114524191A>T	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.1021A>T	1.37:g.114524191A>T	ENSP00000322273:p.Ser341Cys					OLFML3_uc001ees.1_Missense_Mutation_p.S321C|OLFML3_uc001eet.1_Missense_Mutation_p.S197C	p.S341C	NM_020190	NP_064575	Q9NRN5	OLFL3_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)	3	1130	+	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)	341			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	ENST00000320334.4	37	c.1021A>T	CCDS870.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.094859	0.76870	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.89681	-2.55;-2.55;-2.55	5.96	5.96	0.96718	Olfactomedin-like (3);	0.039709	0.85682	D	0.000000	D	0.92922	0.7748	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.98;0.992	D	0.93734	0.7044	10	0.72032	D	0.01	.	16.0835	0.81020	1.0:0.0:0.0:0.0	.	321;341	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	C	321;341;321	ENSP00000358564:S321C;ENSP00000322273:S341C;ENSP00000376977:S321C	ENSP00000322273:S341C	S	+	1	0	OLFML3	114325714	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.986000	0.63851	2.270000	0.75569	0.533000	0.62120	AGT		0.592	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		8	65	0	0	0	0.006214	0	8	65				
AMPD1	270	broad.mit.edu	37	1	115220534	115220534	+	Missense_Mutation	SNP	G	G	C	rs144014236		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:115220534G>C	ENST00000520113.2	-	9	1335	c.1320C>G	c.(1318-1320)atC>atG	p.I440M	AMPD1_ENST00000369538.3_Missense_Mutation_p.I436M|AMPD1_ENST00000353928.6_Missense_Mutation_p.I407M			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	440					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.I440M(1)|p.I407M(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCCTCACCTTGATGATAGTGG	0.438																																							uc001efe.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1219-1221)ATC>ATG		adenosine monophosphate deaminase 1 (isoform M)	Adenosine monophosphate(DB00131)	G	MET/ILE,MET/ILE	0,4406		0,0,2203	173.0	151.0	158.0		1320,1308	5.3	1.0	1	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AMPD1	NM_000036.2,NM_001172626.1	10,10	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	440/781,436/777	115220534	1,13005	2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115220534G>C	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1320C>G	1.37:g.115220534G>C	ENSP00000430075:p.Ile440Met					AMPD1_uc001eff.1_Missense_Mutation_p.I403M	p.I407M	NM_000036	NP_000027	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1305	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	407					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.1221C>G	CCDS876.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.86	3.491667	0.64074	0.0	1.16E-4	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.83075	-1.68;-1.68;-1.68	5.32	5.32	0.75619	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.88749	0.6521	M	0.64997	1.995	0.80722	D	1	D;P	0.76494	0.999;0.792	D;P	0.87578	0.998;0.643	D	0.88682	0.3203	10	0.54805	T	0.06	-22.5624	18.9913	0.92793	0.0:0.0:1.0:0.0	.	436;407	Q5TF02;P23109	.;AMPD1_HUMAN	M	440;436;407	ENSP00000430075:I440M;ENSP00000358551:I436M;ENSP00000316520:I407M	ENSP00000316520:I407M	I	-	3	3	AMPD1	115022057	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.082000	0.64450	2.493000	0.84123	0.561000	0.74099	ATC		0.438	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			40	133	0	0	0	0.003214	0	40	133				
TBX15	6913	broad.mit.edu	37	1	119427774	119427774	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:119427774C>A	ENST00000369429.3	-	8	1399	c.1390G>T	c.(1390-1392)Gcc>Tcc	p.A464S	TBX15_ENST00000207157.3_Missense_Mutation_p.A358S			Q96SF7	TBX15_HUMAN	T-box 15	464					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A358S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CCACCGTAGGCTTCCATCTTG	0.562																																							uc001ehl.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(1072-1074)GCC>TCC		T-box 15							67.0	60.0	62.0					1																	119427774		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119427774C>A	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1390G>T	1.37:g.119427774C>A	ENSP00000358437:p.Ala464Ser					TBX15_uc009whj.1_Missense_Mutation_p.A182S	p.A358S	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1387	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	464					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.1072G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.853|4.853	0.158507|0.158507	0.09236|0.09236	.|.	.|.	ENSG00000092607|ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873|ENST00000393149	D;D;T|.	0.87809|.	-2.3;-2.18;-1.09|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.057237|.	0.64402|.	D|.	0.000002|.	T|T	0.45677|0.45677	0.1354|0.1354	L|L	0.43152|0.43152	1.355|1.355	0.51482|0.51482	D|D	0.999926|0.999926	B;B|.	0.27450|.	0.179;0.002|.	B;B|.	0.24974|.	0.057;0.003|.	T|T	0.47086|0.47086	-0.9144|-0.9144	10|6	0.08381|0.41790	T|T	0.77|0.15	.|.	8.4006|8.4006	0.32583|0.32583	0.1553:0.768:0.0:0.0766|0.1553:0.768:0.0:0.0766	.|.	261;464|.	E9PCG3;Q96SF7|.	.;TBX15_HUMAN|.	S|N	261;358;464;192|189	ENSP00000207157:A358S;ENSP00000358437:A464S;ENSP00000398625:A192S|.	ENSP00000207157:A358S|ENSP00000376856:K189N	A|K	-|-	1|3	0|2	TBX15|TBX15	119229297|119229297	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	4.202000|4.202000	0.58446|0.58446	2.768000|2.768000	0.95171|0.95171	0.561000|0.561000	0.74099|0.74099	GCC|AAG		0.562	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		7	56	1	0	0.00198382	0.001984	0.00210086	7	56				
TBX15	6913	broad.mit.edu	37	1	119427872	119427872	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:119427872G>T	ENST00000369429.3	-	8	1301	c.1292C>A	c.(1291-1293)gCc>gAc	p.A431D	TBX15_ENST00000207157.3_Missense_Mutation_p.A325D			Q96SF7	TBX15_HUMAN	T-box 15	431					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A325D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGGCTGAGTGGCTGAAGTGGT	0.557																																							uc001ehl.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(973-975)GCC>GAC		T-box 15							57.0	52.0	53.0					1																	119427872		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119427872G>T	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1292C>A	1.37:g.119427872G>T	ENSP00000358437:p.Ala431Asp					TBX15_uc009whj.1_Missense_Mutation_p.A149D	p.A325D	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1289	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	431					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.974C>A		.	.	.	.	.	.	.	.	.	.	G	13.63	2.294306	0.40594	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873;ENST00000393149	D;D;T	0.87729	-2.29;-2.19;-1.2	5.16	5.16	0.70880	.	0.123215	0.56097	D	0.000035	T	0.65407	0.2688	N	0.14661	0.345	0.44345	D	0.997239	B;P	0.34522	0.421;0.455	B;B	0.27076	0.055;0.076	T	0.69818	-0.5042	10	0.33141	T	0.24	.	14.4361	0.67282	0.0:0.1471:0.8529:0.0	.	228;431	E9PCG3;Q96SF7	.;TBX15_HUMAN	D	228;325;431;159;158	ENSP00000207157:A325D;ENSP00000358437:A431D;ENSP00000398625:A159D	ENSP00000207157:A325D	A	-	2	0	TBX15	119229395	1.000000	0.71417	0.820000	0.32676	0.991000	0.79684	5.653000	0.67967	2.692000	0.91855	0.561000	0.74099	GCC		0.557	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		7	47	1	0	0.00307968	0.00308	0.00324859	7	47				
ANKRD35	148741	broad.mit.edu	37	1	145561457	145561457	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:145561457C>T	ENST00000355594.4	+	10	1232	c.1145C>T	c.(1144-1146)aCa>aTa	p.T382I		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	382								p.T382I(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTGAGAGTACACAAGAGCTA	0.547																																					Melanoma(9;127 754 22988 51047)	Melanoma(9;127 754 22988 51047)	uc001eob.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1144-1146)ACA>ATA		ankyrin repeat domain 35							36.0	40.0	38.0					1																	145561457		2203	4300	6503	SO:0001583	missense	148741							g.chr1:145561457C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1145C>T	1.37:g.145561457C>T	ENSP00000347802:p.Thr382Ile					NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.T225I	p.T382I	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			10	1253	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		382					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.1145C>T	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.940384	0.00479	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.58797	0.31	6.07	4.94	0.65067	.	0.386473	0.22304	N	0.061829	T	0.07458	0.0188	N	0.00116	-2.08	0.53688	D	0.999979	B	0.02656	0.0	B	0.01281	0.0	T	0.12863	-1.0531	10	0.31617	T	0.26	-4.52	9.2732	0.37684	0.0:0.0813:0.0:0.9187	.	382	Q8N283	ANR35_HUMAN	I	291;382	ENSP00000347802:T382I	ENSP00000347802:T382I	T	+	2	0	ANKRD35	144272814	0.977000	0.34250	0.769000	0.31535	0.354000	0.29330	2.758000	0.47565	1.103000	0.41568	-0.294000	0.09567	ACA		0.547	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		18	40	0	0	0	0.008871	0	18	40				
HORMAD1	84072	broad.mit.edu	37	1	150689710	150689711	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:150689710_150689711CC>AA	ENST00000361824.2	-	3	186_187	c.81_82GG>TT	c.(79-84)ttGGtg>ttTTtg	p.27_28LV>FL	HORMAD1_ENST00000322343.7_Missense_Mutation_p.27_28LV>FL|HORMAD1_ENST00000476530.1_5'UTR|HORMAD1_ENST00000368995.4_5'UTR|HORMAD1_ENST00000368993.2_Missense_Mutation_p.27_28LV>FL	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	27	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)		p.L27_V28>FL(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTCACTAACACCAAAGACTGGT	0.347																																							uc001evk.1		NA																	1	Complex - compound substitution(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(79-84)TTGGTG>TTTTTG		HORMA domain containing 1																																				SO:0001583	missense	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150689710_150689711CC>AA	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.81_82delinsAA	1.37:g.150689710_150689711delinsAA	ENSP00000355167:p.L27_V28delinsFL					HORMAD1_uc001evl.1_Missense_Mutation_p.27_28LV>FL|HORMAD1_uc001evm.1_5'UTR	p.27_28LV>FL	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		3	187_188	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		27_28			HORMA.		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	DNP	ENST00000361824.2	37	c.81_82GG>TT	CCDS967.1																																																																																				0.347	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		14	223	0	0	0	0.004672	0	14	223				
PIP5K1A	8394	broad.mit.edu	37	1	151205138	151205138	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:151205138G>T	ENST00000368888.4	+	7	1020	c.598G>T	c.(598-600)Gag>Tag	p.E200*	PIP5K1A_ENST00000441902.2_Nonsense_Mutation_p.E188*|PIP5K1A_ENST00000409426.1_Nonsense_Mutation_p.E188*|PIP5K1A_ENST00000414290.2_5'Flank|PIP5K1A_ENST00000368890.4_Nonsense_Mutation_p.E187*	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	200	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)	p.E200*(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCAACATAAAGAGGCGGAATT	0.502																																					Pancreas(80;36 1443 2325 16095 21302)	Pancreas(80;36 1443 2325 16095 21302)	uc001exj.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(598-600)GAG>TAG		phosphatidylinositol-4-phosphate 5-kinase, type							92.0	87.0	88.0					1																	151205138		2203	4300	6503	SO:0001587	stop_gained	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151205138G>T	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.598G>T	1.37:g.151205138G>T	ENSP00000357883:p.Glu200*					PIP5K1A_uc001exi.2_Nonsense_Mutation_p.E187*|PIP5K1A_uc010pcu.1_Nonsense_Mutation_p.E188*|PIP5K1A_uc001exk.2_Nonsense_Mutation_p.E187*|PIP5K1A_uc010pcv.1_5'Flank	p.E200*	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		7	1050	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		200			PIPK.		A8K4Q0|B4DIN0|Q99754|Q99756	Nonsense_Mutation	SNP	ENST00000368888.4	37	c.598G>T	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	G	39	7.633806	0.98403	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6216	0.91323	0.0:0.0:1.0:0.0	.	.	.	.	X	187;188;188;187;200	.	ENSP00000271663:E187X	E	+	1	0	PIP5K1A	149471762	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.597000	0.98273	2.741000	0.93983	0.479000	0.44913	GAG		0.502	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		5	133	1	0	3.59834e-05	0.001168	4.03688e-05	5	133				
TUFT1	7286	broad.mit.edu	37	1	151537034	151537034	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:151537034A>G	ENST00000368849.3	+	5	420	c.358A>G	c.(358-360)Ata>Gta	p.I120V	TUFT1_ENST00000368848.2_Missense_Mutation_p.I95V|TUFT1_ENST00000353024.3_Missense_Mutation_p.I61V|TUFT1_ENST00000392712.3_Intron|RP11-74C1.4_ENST00000434112.1_RNA|TUFT1_ENST00000538902.1_Missense_Mutation_p.I139V	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	120					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)	p.I120V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCGGGAGGATATAAGTAGCAA	0.527																																							uc001eyl.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(358-360)ATA>GTA		tuftelin 1 isoform 1							62.0	59.0	60.0					1																	151537034		2203	4300	6503	SO:0001583	missense	7286				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel	g.chr1:151537034A>G	AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.358A>G	1.37:g.151537034A>G	ENSP00000357842:p.Ile120Val					TUFT1_uc001eym.2_Missense_Mutation_p.I95V|TUFT1_uc010pdf.1_Missense_Mutation_p.I139V|TUFT1_uc010pdg.1_Missense_Mutation_p.I68V	p.I120V	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		5	420	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		120			Potential.		B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	ENST00000368849.3	37	c.358A>G	CCDS1000.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905446	0.72868	.	.	ENSG00000143367	ENST00000368849;ENST00000353024;ENST00000368848;ENST00000544350;ENST00000538902;ENST00000507671	T;T;T;T	0.19938	2.15;2.18;2.17;2.11	5.36	5.36	0.76844	.	0.096141	0.64402	D	0.000001	T	0.24624	0.0597	M	0.73598	2.24	0.32616	N	0.52404	P;P;P	0.51653	0.782;0.82;0.947	B;B;P	0.52514	0.28;0.35;0.701	T	0.18461	-1.0336	10	0.62326	D	0.03	-12.0208	11.7501	0.51843	1.0:0.0:0.0:0.0	.	139;95;120	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	V	120;61;95;95;139;95	ENSP00000357842:I120V;ENSP00000343781:I61V;ENSP00000357841:I95V;ENSP00000437997:I139V	ENSP00000343781:I61V	I	+	1	0	TUFT1	149803658	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.150000	0.50662	2.037000	0.60232	0.460000	0.39030	ATA		0.527	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035022.1	NM_020127		11	63	0	0	0	0.000978	0	11	63				
HRNR	388697	broad.mit.edu	37	1	152193135	152193135	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:152193135G>A	ENST00000368801.2	-	3	1045	c.970C>T	c.(970-972)Caa>Taa	p.Q324*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	324					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.Q324*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCGTGTTGGCCGTGGCTG	0.607																																							uc001ezt.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(970-972)CAA>TAA		hornerin							78.0	87.0	84.0					1																	152193135		2203	4300	6503	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193135G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.970C>T	1.37:g.152193135G>A	ENSP00000357791:p.Gln324*						p.Q324*	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1046	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		324			3.		Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.970C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645859	0.67358	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.74	-0.987	0.10249	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	6.3754	0.21505	0.0981:0.0:0.2681:0.6338	.	.	.	.	X	324	.	ENSP00000357791:Q324X	Q	-	1	0	HRNR	150459759	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.372000	0.01073	-0.428000	0.07339	0.644000	0.83932	CAA		0.607	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		8	129	0	0	0	0.001855	0	8	129				
FLG	2312	broad.mit.edu	37	1	152282982	152282982	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:152282982G>T	ENST00000368799.1	-	3	4415	c.4380C>A	c.(4378-4380)ccC>ccA	p.P1460P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1460	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.P1460P(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCAGTGCTGGGTGCAGTCT	0.577									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(4378-4380)CCC>CCA		filaggrin							234.0	224.0	228.0					1																	152282982		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282982G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4380C>A	1.37:g.152282982G>T						uc001ezv.2_5'Flank	p.P1460P	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4416	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1460			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.4380C>A	CCDS30860.1																																																																																				0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		61	423	1	0	6.83704e-37	0.00361	1.13634e-36	61	423				
FLG	2312	broad.mit.edu	37	1	152283359	152283359	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:152283359C>A	ENST00000368799.1	-	3	4038	c.4003G>T	c.(4003-4005)Gag>Tag	p.E1335*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1335	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.E1335*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAGACTCTGTGTGATGA	0.547									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(4003-4005)GAG>TAG		filaggrin							314.0	302.0	306.0					1																	152283359		2203	4300	6503	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283359C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4003G>T	1.37:g.152283359C>A	ENSP00000357789:p.Glu1335*					uc001ezv.2_5'Flank	p.E1335*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4039	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1335			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.4003G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	37	6.438473	0.97568	.	.	ENSG00000143631	ENST00000368799	.	.	.	1.81	-2.53	0.06326	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	3.9925	0.09543	0.0:0.3285:0.4865:0.185	.	.	.	.	X	1335	.	ENSP00000357789:E1335X	E	-	1	0	FLG	150549983	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.522000	0.02237	-0.287000	0.09064	0.456000	0.33151	GAG		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		42	738	1	0	1.56989e-16	0.00361	2.30038e-16	42	738				
KPRP	448834	broad.mit.edu	37	1	152733252	152733252	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:152733252G>A	ENST00000606109.1	+	1	1216	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L	KPRP_ENST00000368773.1_Silent_p.L396L			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	396	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.L396L(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCACCACTGCAGCGATGTC	0.612																																							uc001fal.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(1186-1188)CTG>CTA		keratinocyte proline-rich protein							144.0	140.0	141.0					1																	152733252		2203	4300	6503	SO:0001819	synonymous_variant	448834					cytoplasm		g.chr1:152733252G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1188G>A	1.37:g.152733252G>A							p.L396L	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1246	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		396			Pro-rich.			Silent	SNP	ENST00000606109.1	37	c.1188G>A	CCDS30862.1																																																																																				0.612	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		25	86	0	0	0	0.00632	0	25	86				
PGLYRP4	57115	broad.mit.edu	37	1	153312856	153312856	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:153312856C>A	ENST00000359650.5	-	7	889		c.e7+1		PGLYRP4_ENST00000368739.3_Splice_Site	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4						defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.?(3)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACCCACTCACTTATAACCAA	0.512																																							uc001fbo.2		NA																	3	Unknown(3)		lung(3)	ovary(3)|skin(1)	4						c.e7+1		peptidoglycan recognition protein-I-beta							94.0	92.0	93.0					1																	153312856		2203	4300	6503	SO:0001630	splice_region_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153312856C>A	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.824+1G>T	1.37:g.153312856C>A						PGLYRP4_uc001fbp.2_Splice_Site_p.N271_splice	p.N275_splice	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		7	889	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)							A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Splice_Site	SNP	ENST00000359650.5	37	c.824_splice	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090251	0.36855	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	.	.	.	3.64	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9823	0.47501	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PGLYRP4	151579480	1.000000	0.71417	0.987000	0.45799	0.054000	0.15201	3.668000	0.54554	1.988000	0.58038	0.655000	0.94253	.		0.512	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393	Intron	73	91	1	0	1.43161e-34	0.00361	2.37207e-34	73	91				
NPR1	4881	broad.mit.edu	37	1	153655054	153655054	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:153655054G>T	ENST00000368680.3	+	5	1724	c.1252G>T	c.(1252-1254)Ggt>Tgt	p.G418C		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	418					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)	p.G418C(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TCCCGAGAATGGTGCCTTCAG	0.532																																					Pancreas(141;1349 1870 15144 15830 40702)	Pancreas(141;1349 1870 15144 15830 40702)	uc001fcs.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|stomach(1)|breast(1)	7						c.(1252-1254)GGT>TGT		natriuretic peptide receptor 1 precursor	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						108.0	87.0	94.0					1																	153655054		2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153655054G>T	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1252G>T	1.37:g.153655054G>T	ENSP00000357669:p.Gly418Cys					NPR1_uc010pdz.1_Missense_Mutation_p.G164C|NPR1_uc010pea.1_5'Flank	p.G418C	NM_000906	NP_000897	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	1673	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		418			Extracellular (Potential).		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.1252G>T	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464285	0.63513	.	.	ENSG00000169418	ENST00000368680	T	0.78364	-1.17	5.24	4.33	0.51752	.	0.444646	0.20859	N	0.084396	T	0.81475	0.4830	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	P	0.61533	0.89	T	0.83223	-0.0067	10	0.56958	D	0.05	.	9.6311	0.39780	0.0938:0.0:0.9062:0.0	.	418	P16066	ANPRA_HUMAN	C	418	ENSP00000357669:G418C	ENSP00000357669:G418C	G	+	1	0	NPR1	151921678	1.000000	0.71417	0.691000	0.30163	0.932000	0.56968	4.332000	0.59279	1.448000	0.47680	0.655000	0.94253	GGT		0.532	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		4	55	1	0	1.23904e-05	0.000602	1.40913e-05	4	55				
SLC27A3	11000	broad.mit.edu	37	1	153745702	153745702	+	5'Flank	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:153745702C>T	ENST00000368661.3	+	0	0				INTS3_ENST00000435409.2_Missense_Mutation_p.R1029W|INTS3_ENST00000318967.2_Missense_Mutation_p.R1029W|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000456435.1_Missense_Mutation_p.R889W|INTS3_ENST00000512605.1_Missense_Mutation_p.R889W|SLC27A3_ENST00000271857.2_5'Flank	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3						fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)	p.R1029W(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCCTACCAAGCGGAAACGAAA	0.592																																							uc009wom.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(3085-3087)CGG>TGG		integrator complex subunit 3							184.0	188.0	187.0					1																	153745702		2203	4300	6503	SO:0001631	upstream_gene_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153745702C>T	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155		1.37:g.153745702C>T	Exception_encountered					INTS3_uc001fct.2_Missense_Mutation_p.R1029W|INTS3_uc001fcu.2_Missense_Mutation_p.R721W|INTS3_uc001fcv.2_Missense_Mutation_p.R823W|INTS3_uc010peb.1_Missense_Mutation_p.R889W|INTS3_uc001fcw.2_Missense_Mutation_p.R542W|INTS3_uc010pec.1_Missense_Mutation_p.R542W|INTS3_uc001fcy.2_Missense_Mutation_p.R392W|INTS3_uc001fcx.2_Missense_Mutation_p.R326W	p.R1029W	NM_023015	NP_075391	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		31	3306	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1030					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	c.3085C>T	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011340	0.75046	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.92	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.37705	0.1013	L	0.40543	1.245	0.24628	N	0.993632	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.973;0.988	T	0.09250	-1.0683	9	0.72032	D	0.01	.	9.5349	0.39216	0.4098:0.5902:0.0:0.0	.	889;1030;1029	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	W	1029;889;1029;889	.	ENSP00000318641:R1029W	R	+	1	2	INTS3	152012326	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.327000	0.33746	1.293000	0.44690	0.485000	0.47835	CGG		0.592	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		26	277	0	0	0	0.009535	0	26	277				
CHRNB2	1141	broad.mit.edu	37	1	154544111	154544111	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:154544111C>A	ENST00000368476.3	+	5	1076	c.812C>A	c.(811-813)tCa>tAa	p.S271*		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	271					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.S271*(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	TTGTGCATCTCAGTGCTGCTG	0.577																																							uc001ffg.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(811-813)TCA>TAA		neuronal nicotinic acetylcholine receptor beta 2	Nicotine(DB00184)						280.0	208.0	233.0					1																	154544111		2203	4300	6503	SO:0001587	stop_gained	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154544111C>A	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.812C>A	1.37:g.154544111C>A	ENSP00000357461:p.Ser271*						p.S271*	NM_000748	NP_000739	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1076	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		271			Helical; (Potential).		Q9UEH9	Nonsense_Mutation	SNP	ENST00000368476.3	37	c.812C>A	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	C	39	7.470747	0.98306	.	.	ENSG00000160716	ENST00000368476	.	.	.	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1089	0.81244	0.0:1.0:0.0:0.0	.	.	.	.	X	271	.	ENSP00000357461:S271X	S	+	2	0	CHRNB2	152810735	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.608000	0.82898	2.095000	0.63458	0.467000	0.42956	TCA		0.577	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		34	211	1	0	4.11147e-13	0.003755	5.721e-13	34	211				
ADAR	103	broad.mit.edu	37	1	154571062	154571062	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:154571062C>A	ENST00000368474.4	-	3	1801		c.e3-1		ADAR_ENST00000368471.3_Splice_Site|ADAR_ENST00000292205.5_Splice_Site	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific						adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAATTTAAATCTTGACGGAAA	0.478																																							uc001ffh.2		NA																	1	Unknown(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.e3-1		adenosine deaminase, RNA-specific isoform a							107.0	104.0	105.0					1																	154571062		2203	4300	6503	SO:0001630	splice_region_variant	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154571062C>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.1602-1G>T	1.37:g.154571062C>A						ADAR_uc001ffj.2_Splice_Site_p.R534_splice|ADAR_uc001ffi.2_Splice_Site_p.R534_splice|ADAR_uc001ffk.2_Splice_Site_p.R239_splice	p.R534_splice	NM_001111	NP_001102	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	3	1802	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)							B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Splice_Site	SNP	ENST00000368474.4	37	c.1602_splice	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355234	0.82243	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4057	0.90535	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAR	152837686	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.652000	0.74377	2.576000	0.86940	0.655000	0.94253	.		0.478	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111	Intron	19	198	1	0	4.26978e-12	0.00333	5.83572e-12	19	198				
MUC1	4582	broad.mit.edu	37	1	155161953	155161953	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:155161953T>C	ENST00000368395.1	-	2	251	c.180A>G	c.(178-180)gtA>gtG	p.V60V	MUC1_ENST00000368390.3_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000438413.1_Intron|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000343256.5_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	842					cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|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)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)	p.V60V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCTGGAGAGTACGCTGCTGG	0.587			T	IGH@	B-NHL																																		uc010pft.1		NA		Dom	yes		1	1q21	4582	T	"""mucin 1, transmembrane"""			L	IGH@		B-NHL		1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						c.(178-180)GTA>GTG		SubName: Full=MUC1 isoform M13;							129.0	125.0	126.0					1																	155161953		2203	4299	6502	SO:0001819	synonymous_variant	4582					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	g.chr1:155161953T>C	J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"""CD molecules"", ""Mucins"""	7508	protein-coding gene	gene with protein product		158340	"""mucin 1, transmembrane"", ""medullary cystic kidney disease 1 (autosomal dominant)"""	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.180A>G	1.37:g.155161953T>C						RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'Flank|MUC1_uc001fhz.2_5'Flank|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Intron|MUC1_uc010pfi.1_Intron|MUC1_uc010pfj.1_Intron|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Intron|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Intron|MUC1_uc009wqd.2_Intron|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Intron|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron|uc009wqh.2_5'Flank|MUC1_uc001fiv.1_Silent_p.V69V|MUC1_uc001fiw.1_Silent_p.V60V	p.V60V			P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	246	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		60			Extracellular (Potential).		A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	Silent	SNP	ENST00000368395.1	37	c.180A>G	CCDS55640.1																																																																																				0.587	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	NM_002456		32	213	0	0	0	0.004289	0	32	213				
ARHGEF2	9181	broad.mit.edu	37	1	155931973	155931973	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:155931973T>A	ENST00000361247.4	-	10	1241	c.1142A>T	c.(1141-1143)cAg>cTg	p.Q381L	ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.Q380L|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.Q353L|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.Q382L|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.Q426L|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.Q353L	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	381	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q353L(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GATGCACTCCTGTACCCCGTG	0.642																																					Melanoma(178;35 2768 6610 28839)	Melanoma(178;35 2768 6610 28839)	uc001fmt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1141-1143)CAG>CTG		Rho/Rac guanine nucleotide exchange factor 2							66.0	67.0	67.0					1																	155931973		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155931973T>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1142A>T	1.37:g.155931973T>A	ENSP00000354837:p.Gln381Leu					ARHGEF2_uc001fmr.2_Missense_Mutation_p.Q353L|ARHGEF2_uc001fms.2_Missense_Mutation_p.Q380L|ARHGEF2_uc001fmu.2_Missense_Mutation_p.Q425L|ARHGEF2_uc010pgt.1_Missense_Mutation_p.Q354L|ARHGEF2_uc010pgu.1_Missense_Mutation_p.Q426L	p.Q381L	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN			10	1260	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		381			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1142A>T	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805929	0.70682	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.01	5.01	0.66863	Dbl homology (DH) domain (5);	0.156200	0.30101	N	0.010407	T	0.66356	0.2781	L	0.56769	1.78	0.43947	D	0.996611	D;D;D;D	0.67145	0.971;0.99;0.996;0.988	P;D;D;P	0.79784	0.856;0.929;0.993;0.837	T	0.70835	-0.4764	10	0.66056	D	0.02	-35.6603	9.1394	0.36894	0.0:0.0:0.184:0.816	.	426;425;381;380	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	L	353;381;382;353;426;354;380	ENSP00000315325:Q353L;ENSP00000354837:Q381L;ENSP00000357298:Q382L;ENSP00000357299:Q353L;ENSP00000314787:Q380L	ENSP00000314787:Q380L	Q	-	2	0	ARHGEF2	154198597	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	2.242000	0.43106	2.231000	0.72958	0.533000	0.62120	CAG		0.642	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		20	162	0	0	0	0.004656	0	20	162				
GPATCH4	54865	broad.mit.edu	37	1	156565192	156565192	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:156565192C>T	ENST00000438976.2	-	8	971	c.941G>A	c.(940-942)gGa>gAa	p.G314E	GPATCH4_ENST00000497287.1_5'Flank|GPATCH4_ENST00000368232.4_Missense_Mutation_p.G309E			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	309							poly(A) RNA binding (GO:0044822)	p.G309E(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)					GCCTTTTCCTCCTTCCTCCAA	0.522																																							uc001fpm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(940-942)GGA>GAA		G patch domain containing 4 isoform 1							240.0	225.0	230.0					1																	156565192		2203	4300	6503	SO:0001583	missense	54865					intracellular	nucleic acid binding	g.chr1:156565192C>T	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.941G>A	1.37:g.156565192C>T	ENSP00000396441:p.Gly314Glu					APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.2_Missense_Mutation_p.G309E	p.G314E	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN			8	980	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		309					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	ENST00000438976.2	37	c.941G>A	CCDS44245.1	.	.	.	.	.	.	.	.	.	.	C	3.069	-0.191648	0.06299	.	.	ENSG00000160818	ENST00000368232;ENST00000368229;ENST00000438976	T;T	0.39056	1.1;1.1	3.8	-7.61	0.01299	.	1.366140	0.05700	N	0.593891	T	0.08403	0.0209	L	0.31926	0.97	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14172	-1.0482	10	0.10111	T	0.7	-10.707	8.4857	0.33069	0.0:0.1351:0.2697:0.5952	.	314;309	E9PAV9;Q5T3I0	.;GPTC4_HUMAN	E	309;309;314	ENSP00000357215:G309E;ENSP00000396441:G314E	ENSP00000357212:G309E	G	-	2	0	GPATCH4	154831816	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.145000	0.16157	-1.363000	0.02164	-0.259000	0.10710	GGA		0.522	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		42	472	0	0	0	0.003214	0	42	472				
BCAN	63827	broad.mit.edu	37	1	156617860	156617860	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:156617860G>T	ENST00000329117.5	+	5	1063	c.727G>T	c.(727-729)Gat>Tat	p.D243Y	BCAN_ENST00000361588.5_Missense_Mutation_p.D243Y|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	243	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.D243Y(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTGGACCCGGATGACCTCTA	0.547																																							uc001fpp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(727-729)GAT>TAT		brevican isoform 1							156.0	144.0	148.0					1																	156617860		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617860G>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.727G>T	1.37:g.156617860G>T	ENSP00000331210:p.Asp243Tyr					BCAN_uc001fpo.2_Missense_Mutation_p.D243Y	p.D243Y	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			5	1063	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		243			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.727G>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.546595	0.27652	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000424639;ENST00000361588	T;T;T	0.08370	3.1;3.1;3.1	4.0	3.08	0.35506	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.205803	0.29410	N	0.012224	T	0.11281	0.0275	M	0.64676	1.99	0.51767	D	0.999937	D;B	0.60160	0.987;0.43	D;B	0.63703	0.917;0.241	T	0.01464	-1.1348	10	0.66056	D	0.02	-10.7993	7.3875	0.26891	0.2043:0.0:0.7957:0.0	.	243;243	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	Y	184;243;141;243	ENSP00000331210:D243Y;ENSP00000401709:D141Y;ENSP00000354925:D243Y	ENSP00000255029:D184Y	D	+	1	0	BCAN	154884484	1.000000	0.71417	0.798000	0.32154	0.573000	0.36030	4.424000	0.59868	0.893000	0.36288	-0.300000	0.09419	GAT		0.547	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		122	162	1	0	7.84169e-52	0.00361	1.31961e-51	122	162				
NTRK1	4914	broad.mit.edu	37	1	156845387	156845387	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:156845387C>A	ENST00000524377.1	+	12	1471	c.1430C>A	c.(1429-1431)tCc>tAc	p.S477Y	NTRK1_ENST00000392302.2_Missense_Mutation_p.S441Y|NTRK1_ENST00000368196.3_Missense_Mutation_p.S471Y|NTRK1_ENST00000358660.3_Missense_Mutation_p.S471Y	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	477	Interaction with SQSTM1. {ECO:0000250}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S441Y(1)|p.S477Y(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	AGCTCCCTGTCCCCCACCGAG	0.612			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																													uc001fqh.1		NA		Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		2	Substitution - Missense(2)		lung(2)	lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(1429-1431)TCC>TAC		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						89.0	77.0	81.0					1																	156845387		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156845387C>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1430C>A	1.37:g.156845387C>A	ENSP00000431418:p.Ser477Tyr	TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Missense_Mutation_p.S441Y|NTRK1_uc009wsi.1_Missense_Mutation_p.S176Y|NTRK1_uc001fqi.1_Missense_Mutation_p.S471Y|NTRK1_uc009wsk.1_Missense_Mutation_p.S471Y	p.S477Y	NM_002529	NP_002520	P04629	NTRK1_HUMAN			12	1486	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		477			Cytoplasmic (Potential).|Interaction with SQSTM1 (By similarity).		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1430C>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651344	0.88056	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.78003	-1.11;-1.12;-1.14;-1.14	4.64	4.64	0.57946	.	0.000000	0.51477	D	0.000098	D	0.82875	0.5132	M	0.73962	2.25	0.58432	D	0.999998	D;P;B;P	0.56968	0.978;0.654;0.38;0.918	P;B;B;P	0.58577	0.841;0.431;0.191;0.653	D	0.85385	0.1122	10	0.72032	D	0.01	.	16.216	0.82217	0.0:1.0:0.0:0.0	.	471;471;477;441	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	Y	441;471;477;471	ENSP00000376120:S441Y;ENSP00000357179:S471Y;ENSP00000431418:S477Y;ENSP00000351486:S471Y	ENSP00000351486:S471Y	S	+	2	0	NTRK1	155112011	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	4.321000	0.59209	2.396000	0.81511	0.462000	0.41574	TCC		0.612	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		9	120	1	0	0.000673444	0.008291	0.000723852	9	120				
NTRK1	4914	broad.mit.edu	37	1	156849069	156849069	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:156849069G>A	ENST00000524377.1	+	15	2002	c.1961G>A	c.(1960-1962)cGc>cAc	p.R654H	NTRK1_ENST00000392302.2_Missense_Mutation_p.R618H|NTRK1_ENST00000368196.3_Missense_Mutation_p.R648H|NTRK1_ENST00000358660.3_Missense_Mutation_p.R651H	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	654	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in CIPA; processed as wild-type but shows significantly diminished autophosphorylation in both neuronal and non-neuronal cells). {ECO:0000269|PubMed:10982191, ECO:0000269|PubMed:22302274}.		activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R618H(1)|p.R654H(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CTGGCCACACGCAACTGTCTA	0.597			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																													uc001fqh.1		NA		Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		2	Substitution - Missense(2)		lung(2)	lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(1960-1962)CGC>CAC		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						68.0	59.0	62.0					1																	156849069		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156849069G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1961G>A	1.37:g.156849069G>A	ENSP00000431418:p.Arg654His	TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Missense_Mutation_p.R618H|NTRK1_uc009wsi.1_Missense_Mutation_p.R353H|NTRK1_uc001fqi.1_Missense_Mutation_p.R648H|NTRK1_uc009wsk.1_Missense_Mutation_p.R651H	p.R654H	NM_002529	NP_002520	P04629	NTRK1_HUMAN			15	2017	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		654		R -> C (in CIPA).	Cytoplasmic (Potential).|Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1961G>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002509	0.93227	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	4.37	4.37	0.52481	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.123070	0.36972	N	0.002315	D	0.93354	0.7881	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.999;0.976;0.998	D	0.94307	0.7542	10	0.87932	D	0	.	15.9854	0.80147	0.0:0.0:1.0:0.0	.	651;648;654;618	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	H	618;648;654;651	ENSP00000376120:R618H;ENSP00000357179:R648H;ENSP00000431418:R654H;ENSP00000351486:R651H	ENSP00000351486:R651H	R	+	2	0	NTRK1	155115693	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.548000	0.98103	2.432000	0.82394	0.561000	0.74099	CGC		0.597	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		9	92	0	0	0	0.006214	0	9	92				
PEAR1	375033	broad.mit.edu	37	1	156874558	156874558	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:156874558G>A	ENST00000338302.3	+	4	345	c.120G>A	c.(118-120)aaG>aaA	p.K40K	PEAR1_ENST00000292357.7_Silent_p.K40K			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	40	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.K40K(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCACCACCAAGGAGTCCCACT	0.667																																							uc001fqj.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(118-120)AAG>AAA		platelet endothelial aggregation receptor 1							72.0	75.0	74.0					1																	156874558		2203	4300	6503	SO:0001819	synonymous_variant	375033					integral to membrane		g.chr1:156874558G>A	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.120G>A	1.37:g.156874558G>A						PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	p.K40K	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN			3	236	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		40			EMI.		Q8TEK2	Silent	SNP	ENST00000338302.3	37	c.120G>A	CCDS30892.1																																																																																				0.667	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		5	228	0	0	0	0.001168	0	5	228				
OR10X1	128367	broad.mit.edu	37	1	158548798	158548798	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:158548798G>T	ENST00000368150.1	-	1	891	c.892C>A	c.(892-894)Ctc>Atc	p.L298I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L298I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ATGGGGCTGAGGAAGGGGGTA	0.398																																							uc010pin.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(892-894)CTC>ATC		olfactory receptor, family 10, subfamily X,							105.0	110.0	108.0					1																	158548798		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158548798G>T	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.892C>A	1.37:g.158548798G>T	ENSP00000357132:p.Leu298Ile						p.L298I	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	892	-	all_hematologic(112;0.0378)		298			Helical; Name=7; (Potential).		Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.892C>A	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949663	0.53186	.	.	ENSG00000186400	ENST00000368150	T	0.44083	0.93	4.5	3.58	0.41010	.	0.000000	0.43416	D	0.000565	T	0.45337	0.1337	L	0.49455	1.56	0.27444	N	0.953644	D	0.71674	0.998	D	0.80764	0.994	T	0.16778	-1.0391	10	0.87932	D	0	.	12.1501	0.54046	0.0908:0.0:0.9092:0.0	.	298	Q8NGY0	O10X1_HUMAN	I	298	ENSP00000357132:L298I	ENSP00000357132:L298I	L	-	1	0	OR10X1	156815422	0.286000	0.24305	1.000000	0.80357	0.839000	0.47603	-0.195000	0.09546	2.473000	0.83533	0.563000	0.77884	CTC		0.398	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		59	293	1	0	2.22609e-26	0.00361	3.55711e-26	59	293				
SPTA1	6708	broad.mit.edu	37	1	158644338	158644338	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:158644338G>T	ENST00000368147.4	-	9	1420	c.1240C>A	c.(1240-1242)Cag>Aag	p.Q414K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	414					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q413_Q414>H*(1)|p.Q414K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACCTTATGCTGCTGATGCCTG	0.512																																							uc001fst.1		NA																	2	Substitution - Missense(1)|Complex - compound substitution(1)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1240-1242)CAG>AAG		spectrin, alpha, erythrocytic 1							125.0	124.0	125.0					1																	158644338		1978	4167	6145	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158644338G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1240C>A	1.37:g.158644338G>T	ENSP00000357129:p.Gln414Lys						p.Q414K	NM_003126	NP_003117	P02549	SPTA1_HUMAN			9	1439	-	all_hematologic(112;0.0378)		414			Spectrin 5.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1240C>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174387	0.78452	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51574	0.7;0.7	5.04	5.04	0.67666	.	.	.	.	.	T	0.41190	0.1148	L	0.57536	1.79	0.41180	D	0.986228	P	0.41947	0.766	P	0.48873	0.593	T	0.22173	-1.0224	9	0.33940	T	0.23	.	11.5898	0.50939	0.0:0.1795:0.8205:0.0	.	414	P02549	SPTA1_HUMAN	K	414	ENSP00000357130:Q414K;ENSP00000357129:Q414K	ENSP00000357129:Q414K	Q	-	1	0	SPTA1	156910962	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.917000	0.69989	2.630000	0.89119	0.655000	0.94253	CAG		0.512	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		22	250	1	0	7.41877e-09	0.001882	9.37796e-09	22	250				
OR6K6	128371	broad.mit.edu	37	1	158725187	158725187	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:158725187G>T	ENST00000368144.2	+	1	678	c.582G>T	c.(580-582)ttG>ttT	p.L194F		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L194F(2)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TTTCCACCTTGCCTTTCTGTG	0.478																																							uc001fsw.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(580-582)TTG>TTT		olfactory receptor, family 6, subfamily K,							133.0	109.0	117.0					1																	158725187		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725187G>T	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.582G>T	1.37:g.158725187G>T	ENSP00000357126:p.Leu194Phe						p.L194F	NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN			1	582	+	all_hematologic(112;0.0378)		194			Extracellular (Potential).		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.582G>T	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256340	0.39896	.	.	ENSG00000180433	ENST00000368144	T	0.00253	8.43	5.39	0.0903	0.14463	GPCR, rhodopsin-like superfamily (1);	0.230767	0.22027	N	0.065657	T	0.00178	0.0005	M	0.78344	2.41	0.21184	N	0.999764	D	0.89917	1.0	D	0.97110	1.0	T	0.47983	-0.9074	10	0.72032	D	0.01	-6.3901	2.5249	0.04689	0.2734:0.12:0.4837:0.1229	.	194	Q8NGW6	OR6K6_HUMAN	F	194	ENSP00000357126:L194F	ENSP00000357126:L194F	L	+	3	2	OR6K6	156991811	0.000000	0.05858	0.748000	0.31131	0.504000	0.33889	-0.315000	0.08081	0.098000	0.17522	-0.181000	0.13052	TTG		0.478	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		12	178	1	0	5.16669e-11	0.000978	6.83602e-11	12	178				
FCER1A	2205	broad.mit.edu	37	1	159272177	159272177	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:159272177C>A	ENST00000368115.1	+	2	122	c.23C>A	c.(22-24)cCt>cAt	p.P8H	FCER1A_ENST00000368114.1_Missense_Mutation_p.P8H	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	8					activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)	p.P8H(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ATGGAATCCCCTACTCTACTG	0.478																																							uc001ftq.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|prostate(1)	5						c.(22-24)CCT>CAT		Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						192.0	187.0	189.0					1																	159272177		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159272177C>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.23C>A	1.37:g.159272177C>A	ENSP00000357097:p.Pro8His						p.P8H	NM_002001	NP_001992	P12319	FCERA_HUMAN			2	122	+	all_hematologic(112;0.0429)		8						Missense_Mutation	SNP	ENST00000368115.1	37	c.23C>A	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.471950	0.43942	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.07688	4.88;3.17	4.7	2.8	0.32819	.	8.011410	0.00357	N	0.000024	T	0.08223	0.0205	L	0.57536	1.79	0.09310	N	1	D	0.63046	0.992	P	0.52710	0.707	T	0.22765	-1.0207	10	0.87932	D	0	.	6.3319	0.21274	0.0:0.7138:0.187:0.0992	.	8	P12319	FCERA_HUMAN	H	8	ENSP00000357097:P8H;ENSP00000357096:P8H	ENSP00000357096:P8H	P	+	2	0	FCER1A	157538801	0.000000	0.05858	0.025000	0.17156	0.016000	0.09150	-0.132000	0.10467	0.691000	0.31592	0.650000	0.86243	CCT		0.478	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		20	314	1	0	1.64293e-13	0.00333	2.30396e-13	20	314				
CD84	8832	broad.mit.edu	37	1	160535278	160535279	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:160535278_160535279CC>AA	ENST00000311224.4	-	2	369_370	c.303_304GG>TT	c.(301-306)atGGaa>atTTaa	p.101_102ME>I*	CD84_ENST00000368054.3_Nonsense_Mutation_p.101_102ME>I*|CD84_ENST00000368048.3_Nonsense_Mutation_p.101_102ME>I*|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Nonsense_Mutation_p.101_102ME>I*|CD84_ENST00000534968.1_Intron|CD84_ENST00000368047.3_5'UTR	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	101	Ig-like V-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.M101_E102>I*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCTGCGTCTTCCATCCTCAGAT	0.46																																							uc001fwh.3		NA																	1	Complex - compound substitution(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(301-306)ATGGAA>ATTTAA		CD84 molecule																																				SO:0001587	stop_gained	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160535278_160535279CC>AA	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.303_304delinsAA	1.37:g.160535278_160535279delinsAA	ENSP00000312367:p.M101_E102delinsI*					CD84_uc001fwf.3_Nonsense_Mutation_p.101_102ME>I*|CD84_uc001fwg.3_Nonsense_Mutation_p.101_102ME>I*|CD84_uc009wtn.2_Nonsense_Mutation_p.101_102ME>I*|CD84_uc001fwi.3_Intron|CD84_uc001fwj.2_Nonsense_Mutation_p.101_102ME>I*|CD84_uc001fwk.2_Nonsense_Mutation_p.101_102ME>I*	p.101_102ME>I*	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	327_328	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		101_102			Extracellular (Potential).		B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Nonsense_Mutation	DNP	ENST00000311224.4	37	c.303_304GG>TT	CCDS53396.1																																																																																				0.460	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		23	330	0	0	0	0.004672	0	23	330				
ATF6	22926	broad.mit.edu	37	1	161751777	161751777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:161751777C>T	ENST00000367942.3	+	3	302	c.235C>T	c.(235-237)Caa>Taa	p.Q79*		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	79	Transcription activation.				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)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.Q79*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	CATCAACAACCAAATCTGTAC	0.323																																							uc001gbr.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(235-237)CAA>TAA		activating transcription factor 6							86.0	84.0	84.0					1																	161751777		2203	4299	6502	SO:0001587	stop_gained	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161751777C>T	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.235C>T	1.37:g.161751777C>T	ENSP00000356919:p.Gln79*					ATF6_uc001gbq.1_Nonsense_Mutation_p.Q79*	p.Q79*	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		3	302	+	all_hematologic(112;0.156)		79			Cytoplasmic (Potential).|Transcription activation.		O15139|Q5VW62|Q6IPB5|Q9UEC9	Nonsense_Mutation	SNP	ENST00000367942.3	37	c.235C>T	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965539	0.92855	.	.	ENSG00000118217	ENST00000367942	.	.	.	5.04	5.04	0.67666	.	0.429556	0.26780	N	0.022530	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-2.1542	14.261	0.66085	0.0:1.0:0.0:0.0	.	.	.	.	X	79	.	ENSP00000356919:Q79X	Q	+	1	0	ATF6	160018401	0.693000	0.27728	0.400000	0.26346	0.769000	0.43574	2.415000	0.44635	2.498000	0.84270	0.555000	0.69702	CAA		0.323	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		3	73	0	0	0	0.001168	0	3	73				
OLFML2B	25903	broad.mit.edu	37	1	161953963	161953963	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:161953963G>T	ENST00000294794.3	-	8	2178	c.1755C>A	c.(1753-1755)atC>atA	p.I585I	OLFML2B_ENST00000367938.1_Silent_p.I68I|OLFML2B_ENST00000367940.2_Silent_p.I586I	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	585	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.I585I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGTACTTGATGATGTTGCGGG	0.607																																							uc001gbu.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1753-1755)ATC>ATA		olfactomedin-like 2B precursor							93.0	74.0	81.0					1																	161953963		2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161953963G>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1755C>A	1.37:g.161953963G>T						OLFML2B_uc001gbt.2_Silent_p.I68I|OLFML2B_uc010pkq.1_Silent_p.I586I	p.I585I	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2179	-	all_hematologic(112;0.156)		585			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.1755C>A	CCDS1236.1																																																																																				0.607	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		16	111	1	0	5.35267e-07	0.007413	6.38408e-07	16	111				
UAP1	6675	broad.mit.edu	37	1	162535877	162535877	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:162535877A>G	ENST00000367925.1	+	1	51	c.19A>G	c.(19-21)Aaa>Gaa	p.K7E	UAP1_ENST00000367926.4_Missense_Mutation_p.K7E|UAP1_ENST00000271469.3_Missense_Mutation_p.K7E|UAP1_ENST00000367924.1_Missense_Mutation_p.K7E			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	7					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)	p.K7E(1)		breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TAATGACCTCAAACTCACGTT	0.413																																							uc001gce.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|kidney(1)	5						c.(19-21)AAA>GAA		UDP-N-acetylglucosamine pyrophosphorylase 1							96.0	90.0	92.0					1																	162535877		2203	4300	6503	SO:0001583	missense	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162535877A>G	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.19A>G	1.37:g.162535877A>G	ENSP00000356902:p.Lys7Glu						p.K7E	NM_003115	NP_003106	Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		2	348	+	all_hematologic(112;0.115)		7					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37	c.19A>G		.	.	.	.	.	.	.	.	.	.	A	10.94	1.492912	0.26774	.	.	ENSG00000117143	ENST00000412525;ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	4.52	-0.771	0.11002	.	0.975150	0.08433	N	0.946640	T	0.04227	0.0117	L	0.37697	1.125	0.23331	N	0.997899	B	0.02656	0.0	B	0.04013	0.001	T	0.41610	-0.9499	9	0.54805	T	0.06	-1.5045	5.6007	0.17351	0.3683:0.4555:0.1762:0.0	.	7	Q16222-2	.	E	7	ENSP00000395648:K7E;ENSP00000356903:K7E;ENSP00000271469:K7E;ENSP00000356902:K7E;ENSP00000356901:K7E	ENSP00000271469:K7E	K	+	1	0	UAP1	160802501	0.054000	0.20591	0.805000	0.32314	0.808000	0.45660	0.281000	0.18810	-0.322000	0.08615	-0.389000	0.06534	AAA		0.413	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		12	217	0	0	0	0.003163	0	12	217				
MROH9	80133	broad.mit.edu	37	1	170964579	170964579	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:170964579C>T	ENST00000367758.3	+	13	1343	c.1244C>T	c.(1243-1245)gCg>gTg	p.A415V	MROH9_ENST00000367759.4_Missense_Mutation_p.A415V	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	415								p.A415V(3)									TACAGGAAAGCGGTGGCCCAG	0.473																																							uc001ghg.2		NA																	3	Substitution - Missense(3)		lung(2)|central_nervous_system(1)	pancreas(1)	1						c.(1243-1245)GCG>GTG		hypothetical protein LOC80133 isoform 2							106.0	103.0	104.0					1																	170964579		1912	4114	6026	SO:0001583	missense	80133						binding	g.chr1:170964579C>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1244C>T	1.37:g.170964579C>T	ENSP00000356732:p.Ala415Val					C1orf129_uc009wvy.2_Missense_Mutation_p.A222V|C1orf129_uc010plz.1_Missense_Mutation_p.A415V	p.A415V	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			13	1374	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		415					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.1244C>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	C	9.777	1.174195	0.21704	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.66638	-0.22;2.21	5.57	4.65	0.58169	.	0.210308	0.33553	N	0.004782	T	0.23806	0.0576	N	0.21583	0.68	0.26089	N	0.980983	P;P	0.46578	0.88;0.725	B;B	0.26770	0.073;0.073	T	0.05289	-1.0894	10	0.39692	T	0.17	-6.8612	9.4903	0.38955	0.0:0.9015:0.0:0.0985	.	415;415	F5GWX6;Q5TGP6	.;CA129_HUMAN	V	415	ENSP00000356733:A415V;ENSP00000356732:A415V	ENSP00000356732:A415V	A	+	2	0	C1orf129	169231203	0.881000	0.30235	0.406000	0.26421	0.057000	0.15508	1.402000	0.34600	1.335000	0.45486	0.643000	0.83706	GCG		0.473	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		18	118	0	0	0	0.007413	0	18	118				
LAMC2	3918	broad.mit.edu	37	1	183190027	183190027	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:183190027G>A	ENST00000264144.4	+	5	636	c.571G>A	c.(571-573)Ggg>Agg	p.G191R	LAMC2_ENST00000493293.1_Missense_Mutation_p.G191R	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	191	Laminin EGF-like 4; first part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.G191R(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TTTCTGCTATGGGCATTCAGC	0.453																																							uc001gqa.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(571-573)GGG>AGG		laminin, gamma 2 isoform a precursor							72.0	74.0	73.0					1																	183190027		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183190027G>A	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.571G>A	1.37:g.183190027G>A	ENSP00000264144:p.Gly191Arg					LAMC2_uc001gpz.3_Missense_Mutation_p.G191R|LAMC2_uc010poa.1_5'UTR	p.G191R	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			5	885	+			191			Laminin EGF-like 4; first part.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.571G>A	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553808	0.86231	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.27256	1.82;1.68	5.41	5.41	0.78517	Growth factor, receptor (1);	0.000000	0.64402	D	0.000001	T	0.63248	0.2495	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.73183	-0.4063	10	0.87932	D	0	.	19.2077	0.93739	0.0:0.0:1.0:0.0	.	191;191	Q13753;Q13753-2	LAMC2_HUMAN;.	R	191	ENSP00000432063:G191R;ENSP00000264144:G191R	ENSP00000264144:G191R	G	+	1	0	LAMC2	181456650	1.000000	0.71417	0.994000	0.49952	0.918000	0.54935	5.205000	0.65186	2.529000	0.85273	0.655000	0.94253	GGG		0.453	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		14	50	0	0	0	0.003163	0	14	50				
NR5A2	2494	broad.mit.edu	37	1	200017512	200017512	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:200017512A>T	ENST00000367362.3	+	5	922	c.676A>T	c.(676-678)Aac>Tac	p.N226Y	NR5A2_ENST00000236914.3_Missense_Mutation_p.N180Y|NR5A2_ENST00000544748.1_Missense_Mutation_p.N154Y	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	226					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II 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)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.N226Y(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCTACCTCTGAACCATGCTGC	0.517																																					Melanoma(179;1138 2773 15678 26136)	Melanoma(179;1138 2773 15678 26136)	uc001gvb.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(676-678)AAC>TAC		nuclear receptor subfamily 5, group A, member 2							180.0	167.0	171.0					1																	200017512		2203	4300	6503	SO:0001583	missense	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200017512A>T	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.676A>T	1.37:g.200017512A>T	ENSP00000356331:p.Asn226Tyr					NR5A2_uc001gvc.2_Missense_Mutation_p.N180Y|NR5A2_uc009wzh.2_Missense_Mutation_p.N186Y|NR5A2_uc010pph.1_Missense_Mutation_p.N154Y	p.N226Y	NM_205860	NP_995582	O00482	NR5A2_HUMAN			5	882	+	Prostate(682;0.19)		226					B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	c.676A>T	CCDS1401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.40|10.40	1.341011|1.341011	0.24339|0.24339	.|.	.|.	ENSG00000116833|ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480|ENST00000367357	D;D;D|.	0.94376|.	-3.36;-3.41;-3.41|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Nuclear hormone receptor, ligand-binding (1);|.	0.166245|.	0.64402|.	D|.	0.000004|.	T|.	0.59224|.	0.2178|.	L|L	0.38175|0.38175	1.15|1.15	0.58432|0.58432	D|D	0.999994|0.999994	B;B|.	0.26744|.	0.158;0.08|.	B;B|.	0.29716|.	0.106;0.078|.	T|.	0.55412|.	-0.8145|.	9|.	.|.	.|.	.|.	.|.	16.1358|16.1358	0.81487|0.81487	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	180;226|.	F1D8R9;O00482|.	.;NR5A2_HUMAN|.	Y|C	226;180;154;146|146	ENSP00000356331:N226Y;ENSP00000236914:N180Y;ENSP00000439116:N154Y|.	.|.	N|X	+|+	1|3	0|0	NR5A2|NR5A2	198284135|198284135	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	8.847000|8.847000	0.92166|0.92166	2.261000|2.261000	0.74972|0.74972	0.460000|0.460000	0.39030|0.39030	AAC|TGA		0.517	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			13	164	0	0	0	0.00245	0	13	164				
ATP2B4	493	broad.mit.edu	37	1	203693068	203693068	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:203693068G>T	ENST00000357681.5	+	19	4207	c.3084G>T	c.(3082-3084)caG>caT	p.Q1028H	ATP2B4_ENST00000341360.2_Missense_Mutation_p.Q1028H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.Q1028H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.Q1016H|ATP2B4_ENST00000391954.2_Intron	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1028					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.Q1028H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCCTGTCTCAGTGGCTGTGGT	0.532																																							uc001gzw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(3082-3084)CAG>CAT		plasma membrane calcium ATPase 4 isoform 4b							154.0	158.0	157.0					1																	203693068		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203693068G>T	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3084G>T	1.37:g.203693068G>T	ENSP00000350310:p.Gln1028His					ATP2B4_uc001gzv.2_Missense_Mutation_p.Q1028H|ATP2B4_uc009xaq.2_Missense_Mutation_p.Q1028H|ATP2B4_uc001gzx.2_Missense_Mutation_p.Q59H|ATP2B4_uc009xar.2_Intron	p.Q1028H	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		19	3968	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		1028			Helical; (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.3084G>T	CCDS1440.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.015434|4.015434	0.75161|0.75161	.|.	.|.	ENSG00000058668|ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000341360|ENST00000458092	D;D;D;D|.	0.89196|.	-2.48;-2.48;-2.48;-2.48|.	5.19|5.19	4.28|4.28	0.50868|0.50868	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);|.	0.324485|.	0.23014|.	N|.	0.052935|.	T|T	0.73999|0.73999	0.3659|0.3659	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D;P;P|.	0.58970|.	0.984;0.89;0.921|.	P;P;P|.	0.57620|.	0.824;0.583;0.601|.	T|T	0.75210|0.75210	-0.3398|-0.3398	10|5	0.87932|.	D|.	0|.	-11.0051|-11.0051	13.3287|13.3287	0.60475|0.60475	0.0774:0.0:0.9226:0.0|0.0774:0.0:0.9226:0.0	.|.	1028;1028;1028|.	P23634;P23634-6;B1APW5|.	AT2B4_HUMAN;.;.|.	H|I	1028;1028;1016;1028|15	ENSP00000350310:Q1028H;ENSP00000356187:Q1028H;ENSP00000356188:Q1016H;ENSP00000340930:Q1028H|.	ENSP00000340930:Q1028H|.	Q|S	+|+	3|2	2|0	ATP2B4|ATP2B4	201959691|201959691	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.813000|0.813000	0.45954|0.45954	7.931000|7.931000	0.87625|0.87625	1.198000|1.198000	0.43158|0.43158	-0.142000|-0.142000	0.14014|0.14014	CAG|AGT		0.532	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		102	113	1	0	4.13896e-67	0.00361	7.00889e-67	102	113				
CNTN2	6900	broad.mit.edu	37	1	205027166	205027166	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:205027166C>T	ENST00000331830.4	+	3	472	c.188C>T	c.(187-189)gCc>gTc	p.A63V		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	63	Ig-like C2-type 1.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.A63V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCATGCCGCGCCCGGGCCAGC	0.642																																					Melanoma(183;2548 2817 37099 41192)	Melanoma(183;2548 2817 37099 41192)	uc001hbr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(187-189)GCC>GTC		contactin 2 precursor							24.0	25.0	24.0					1																	205027166		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205027166C>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.188C>T	1.37:g.205027166C>T	ENSP00000330633:p.Ala63Val					CNTN2_uc001hbq.1_5'UTR|CNTN2_uc009xbi.2_5'Flank|CNTN2_uc001hbs.2_5'Flank	p.A63V	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		3	457	+	all_cancers(21;0.144)|Breast(84;0.0437)		63			Ig-like C2-type 1.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.188C>T	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377077	0.82682	.	.	ENSG00000184144	ENST00000331830	T	0.14144	2.53	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000062	T	0.28167	0.0695	L	0.39898	1.24	0.58432	D	0.999999	D	0.69078	0.997	D	0.65323	0.934	T	0.00484	-1.1712	10	0.51188	T	0.08	.	16.9422	0.86221	0.0:1.0:0.0:0.0	.	63	Q02246	CNTN2_HUMAN	V	63	ENSP00000330633:A63V	ENSP00000330633:A63V	A	+	2	0	CNTN2	203293789	0.999000	0.42202	0.998000	0.56505	0.954000	0.61252	4.286000	0.58995	2.508000	0.84585	0.655000	0.94253	GCC		0.642	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		7	53	0	0	0	0.008291	0	7	53				
IL24	11009	broad.mit.edu	37	1	207074989	207074989	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:207074989C>A	ENST00000294984.2	+	5	728	c.454C>A	c.(454-456)Caa>Aaa	p.Q152K	IL24_ENST00000367093.3_Intron|IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Missense_Mutation_p.Q153K	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	152					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)		p.Q152K(1)		endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					GTCACAACTGCAACCcagtgt	0.478																																							uc001hes.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(454-456)CAA>AAA		interleukin 24 isoform 1 precursor							100.0	91.0	94.0					1																	207074989		2203	4300	6503	SO:0001583	missense	11009				apoptosis	extracellular space	cytokine activity	g.chr1:207074989C>A	U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"""Interleukins and interleukin receptors"""	11346	protein-coding gene	gene with protein product	"""melanoma differentiation association protein 7"", ""suppression of tumorigenicity 16 (melanoma differentiation)"", ""IL-4-induced secreted protein"""	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.454C>A	1.37:g.207074989C>A	ENSP00000294984:p.Gln152Lys					IL24_uc001het.1_5'UTR|IL24_uc001heu.1_Missense_Mutation_p.Q153K|IL24_uc001hev.1_RNA|IL24_uc001hew.1_Intron|IL24_uc001hex.1_Intron	p.Q152K	NM_006850	NP_006841	Q13007	IL24_HUMAN			5	728	+	Breast(84;0.201)		152					Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Missense_Mutation	SNP	ENST00000294984.2	37	c.454C>A	CCDS1471.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852552	0.32699	.	.	ENSG00000162892	ENST00000391929;ENST00000294984	T;T	0.17054	2.3;2.3	4.61	2.58	0.30949	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.799426	0.11797	N	0.528554	T	0.15046	0.0363	L	0.46741	1.465	0.09310	N	0.999997	B;B	0.25667	0.131;0.131	B;B	0.24006	0.033;0.05	T	0.21518	-1.0243	10	0.23891	T	0.37	.	9.6379	0.39822	0.375:0.625:0.0:0.0	.	153;152	Q53XZ7;Q13007	.;IL24_HUMAN	K	153;152	ENSP00000375795:Q153K;ENSP00000294984:Q152K	ENSP00000294984:Q152K	Q	+	1	0	IL24	205141612	0.275000	0.24201	0.053000	0.19242	0.399000	0.30720	0.980000	0.29513	1.130000	0.42092	0.555000	0.69702	CAA		0.478	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2	NM_006850		13	73	1	0	2.61681e-11	0.00245	3.49233e-11	13	73				
CR1L	1379	broad.mit.edu	37	1	207871002	207871002	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:207871002C>G	ENST00000508064.2	+	6	1077	c.1017C>G	c.(1015-1017)agC>agG	p.S339R	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	339	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)		p.S347R(1)|p.S339R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAGACTGGAGCCCTGCAGCCC	0.502																																							uc001hga.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1015-1017)AGC>AGG		complement component (3b/4b) receptor 1-like							174.0	173.0	174.0					1																	207871002		1909	4128	6037	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207871002C>G	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1017C>G	1.37:g.207871002C>G	ENSP00000421736:p.Ser339Arg					CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	p.S339R	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN			6	1138	+			339			Sushi 5.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.1017C>G	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	.	10.92	1.488540	0.26686	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.68765	-0.35	2.44	1.47	0.22746	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.69672	0.3137	M	0.81341	2.54	0.23739	N	0.996975	B	0.28291	0.206	B	0.38156	0.266	T	0.65257	-0.6212	9	0.72032	D	0.01	.	7.0575	0.25107	0.0:0.7158:0.2842:0.0	.	339	Q2VPA4	CR1L_HUMAN	R	339	ENSP00000421736:S339R	ENSP00000434864:S283R	S	+	3	2	CR1L	205937625	0.266000	0.24112	0.800000	0.32199	0.256000	0.26092	0.268000	0.18571	0.326000	0.23384	0.298000	0.19748	AGC		0.502	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		38	292	0	0	0	0.00874	0	38	292				
KCNK2	3776	broad.mit.edu	37	1	215259917	215259917	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:215259917C>A	ENST00000444842.2	+	2	403	c.253C>A	c.(253-255)Cag>Aag	p.Q85K	KCNK2_ENST00000391894.2_Missense_Mutation_p.Q70K|KCNK2_ENST00000391895.2_Missense_Mutation_p.Q81K	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	85					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.Q70K(1)|p.Q85K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	AGCATTGGAGCAGCCTCATGA	0.463																																							uc001hkq.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(253-255)CAG>AAG		potassium channel, subfamily K, member 2 isoform	Dofetilide(DB00204)						128.0	114.0	119.0					1																	215259917		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215259917C>A	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.253C>A	1.37:g.215259917C>A	ENSP00000394033:p.Gln85Lys					KCNK2_uc001hko.2_Missense_Mutation_p.Q81K|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.Q70K	p.Q85K	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	2	422	+			85					A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.253C>A	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495798	0.64186	.	.	ENSG00000082482	ENST00000366948;ENST00000391895;ENST00000478774;ENST00000391894;ENST00000444842;ENST00000457122	T;D;T;T;T	0.97161	1.96;-4.27;1.96;1.96;1.96	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.98058	0.9360	M	0.62209	1.925	0.80722	D	1	B;B;D	0.76494	0.178;0.23;0.999	B;B;D	0.77004	0.171;0.082;0.989	D	0.97914	1.0310	10	0.41790	T	0.15	.	19.5079	0.95127	0.0:1.0:0.0:0.0	.	70;85;81	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	K	81;81;29;70;85;29	ENSP00000375765:Q81K;ENSP00000420569:Q29K;ENSP00000375764:Q70K;ENSP00000394033:Q85K;ENSP00000413460:Q29K	ENSP00000355915:Q81K	Q	+	1	0	KCNK2	213326540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.612000	0.88384	0.557000	0.71058	CAG		0.463	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		46	67	1	0	8.20599e-20	0.002852	1.23953e-19	46	67				
USH2A	7399	broad.mit.edu	37	1	215960159	215960159	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:215960159C>T	ENST00000307340.3	-	52	10626	c.10240G>A	c.(10240-10242)Ggc>Agc	p.G3414S	USH2A_ENST00000366943.2_Missense_Mutation_p.G3414S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3414	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.G3414S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCACACCTGCCACAATGTTCT	0.473										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(10240-10242)GGC>AGC		usherin isoform B							63.0	59.0	61.0					1																	215960159		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215960159C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10240G>A	1.37:g.215960159C>T	ENSP00000305941:p.Gly3414Ser	HNSCC(13;0.011)					p.G3414S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	52	10627	-			3414			Fibronectin type-III 19.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10240G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.752007	0.49362	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.14391	2.51;2.51	4.88	3.97	0.46021	Fibronectin, type III (3);	0.000000	0.45606	D	0.000344	T	0.32496	0.0831	M	0.72118	2.19	0.49687	D	0.999819	D	0.76494	0.999	D	0.67548	0.952	T	0.02852	-1.1102	10	0.49607	T	0.09	.	11.4291	0.50029	0.0:0.916:0.0:0.084	.	3414	O75445	USH2A_HUMAN	S	3414	ENSP00000305941:G3414S;ENSP00000355910:G3414S	ENSP00000305941:G3414S	G	-	1	0	USH2A	214026782	1.000000	0.71417	0.292000	0.24919	0.225000	0.24961	3.175000	0.50855	1.032000	0.39892	-0.136000	0.14681	GGC		0.473	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	12	0	0	0	0.008291	0	9	12				
USH2A	7399	broad.mit.edu	37	1	216373152	216373152	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:216373152G>A	ENST00000307340.3	-	17	4014	c.3628C>T	c.(3628-3630)Ctg>Ttg	p.L1210L	USH2A_ENST00000366942.3_Silent_p.L1210L|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366943.2_Silent_p.L1210L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1210	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.L1210L(1)|p.L1210M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATGGAACCAGATTCCAGATG	0.507										HNSCC(13;0.011)																													uc001hku.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|endometrium(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(3628-3630)CTG>TTG		usherin isoform B							95.0	98.0	97.0					1																	216373152		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216373152G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3628C>T	1.37:g.216373152G>A		HNSCC(13;0.011)				USH2A_uc001hkv.2_Silent_p.L1210L	p.L1210L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	17	4015	-			1210			Extracellular (Potential).|Fibronectin type-III 2.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.3628C>T	CCDS31025.1																																																																																				0.507	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		14	83	0	0	0	0.003163	0	14	83				
TMEM63A	9725	broad.mit.edu	37	1	226054364	226054364	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:226054364C>A	ENST00000366835.3	-	9	855	c.585G>T	c.(583-585)ctG>ctT	p.L195L	TMEM63A_ENST00000537914.1_5'UTR|TMEM63A_ENST00000474478.1_5'Flank	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	195					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)	p.L195L(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGATGGTGTGCAGCCAAAGGA	0.562																																							uc001hpm.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(583-585)CTG>CTT		transmembrane protein 63A							111.0	94.0	100.0					1																	226054364		2203	4300	6503	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226054364C>A		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.585G>T	1.37:g.226054364C>A						TMEM63A_uc010pvi.1_Silent_p.L195L	p.L195L	NM_014698	NP_055513	O94886	TM63A_HUMAN			9	835	-	Breast(184;0.197)		195			Helical; (Potential).		Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.585G>T	CCDS31042.1																																																																																				0.562	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		7	44	1	0	0.00307968	0.00308	0.00324859	7	44				
PARP1	142	broad.mit.edu	37	1	226576435	226576435	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:226576435C>T	ENST00000366794.5	-	5	782	c.639G>A	c.(637-639)gtG>gtA	p.V213V		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	213					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V213V(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CCACTCCATCCACCTCATCGC	0.438								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																															uc001hqd.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10						c.(637-639)GTG>GTA	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 1							169.0	172.0	171.0					1																	226576435		2203	4300	6503	SO:0001819	synonymous_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226576435C>T	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.639G>A	1.37:g.226576435C>T							p.V213V	NM_001618	NP_001609	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	5	810	-	Breast(184;0.133)		213					B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	c.639G>A	CCDS1554.1																																																																																				0.438	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		15	282	0	0	0	0.00499	0	15	282				
WNT9A	7483	broad.mit.edu	37	1	228109340	228109340	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:228109340C>G	ENST00000272164.5	-	4	987	c.977G>C	c.(976-978)cGc>cCc	p.R326P		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	326					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.R326P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GTTATGGCCGCGGCCACAGCA	0.652																																							uc001hri.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(976-978)CGC>CCC		wingless-type MMTV integration site family,							44.0	41.0	42.0					1																	228109340		2203	4300	6503	SO:0001583	missense	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228109340C>G	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.977G>C	1.37:g.228109340C>G	ENSP00000272164:p.Arg326Pro						p.R326P	NM_003395	NP_003386	O14904	WNT9A_HUMAN			4	1065	-		Prostate(94;0.0405)	326					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	ENST00000272164.5	37	c.977G>C	CCDS31045.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125502	0.77436	.	.	ENSG00000143816	ENST00000272164	T	0.80033	-1.33	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.93158	0.7821	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95434	0.8519	10	0.87932	D	0	.	16.6575	0.85232	0.0:1.0:0.0:0.0	.	326	O14904	WNT9A_HUMAN	P	326	ENSP00000272164:R326P	ENSP00000272164:R326P	R	-	2	0	WNT9A	226175963	1.000000	0.71417	0.978000	0.43139	0.537000	0.34900	7.564000	0.82326	2.414000	0.81942	0.484000	0.47621	CGC		0.652	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		3	39	0	0	0	0.004672	0	3	39				
WNT3A	89780	broad.mit.edu	37	1	228210557	228210557	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:228210557C>G	ENST00000284523.1	+	2	339	c.261C>G	c.(259-261)aaC>aaG	p.N87K	WNT3A_ENST00000366753.2_Missense_Mutation_p.N87K	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	87					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)	p.N87K(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GCCGGTGGAACTGCACCACCG	0.637																																							uc001hrq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(259-261)AAC>AAG		wingless-type MMTV integration site family,							42.0	44.0	44.0					1																	228210557		2203	4300	6503	SO:0001583	missense	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228210557C>G	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.261C>G	1.37:g.228210557C>G	ENSP00000284523:p.Asn87Lys					WNT3A_uc001hrp.1_Missense_Mutation_p.N87K	p.N87K	NM_033131	NP_149122	P56704	WNT3A_HUMAN			2	339	+		Prostate(94;0.0405)	87					Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	c.261C>G	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500325	0.64298	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	D;D	0.83419	-1.72;-1.72	4.47	1.51	0.23008	.	0.000000	0.85682	D	0.000000	D	0.92502	0.7619	H	0.95917	3.74	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91822	0.5468	10	0.72032	D	0.01	.	9.5338	0.39209	0.0:0.7586:0.0:0.2414	.	87;87	P56704;Q3SY79	WNT3A_HUMAN;.	K	87	ENSP00000284523:N87K;ENSP00000355715:N87K	ENSP00000284523:N87K	N	+	3	2	WNT3A	226277180	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	1.573000	0.36472	0.518000	0.28383	-0.224000	0.12420	AAC		0.637	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		7	50	0	0	0	0.008291	0	7	50				
ACTN2	88	broad.mit.edu	37	1	236881170	236881170	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:236881170T>A	ENST00000366578.4	+	2	305	c.139T>A	c.(139-141)Tgg>Agg	p.W47R	ACTN2_ENST00000542672.1_Missense_Mutation_p.W47R|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	47	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.W47R(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTTCACTGCCTGGTGTAACTC	0.493																																							uc001hyf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(139-141)TGG>AGG		actinin, alpha 2							136.0	116.0	123.0					1																	236881170		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236881170T>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.139T>A	1.37:g.236881170T>A	ENSP00000355537:p.Trp47Arg					ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.W47R	p.W47R	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		2	343	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	47			CH 1.|Actin-binding.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.139T>A	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.608676	0.87258	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	D;D	0.91464	-2.85;-2.85	5.61	5.61	0.85477	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.96962	0.9008	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.998	D	0.98210	1.0472	10	0.87932	D	0	.	14.7935	0.69860	0.0:0.0:0.0:1.0	.	47;47	B2RCS5;P35609	.;ACTN2_HUMAN	R	47	ENSP00000443495:W47R;ENSP00000355537:W47R	ENSP00000355537:W47R	W	+	1	0	ACTN2	234947793	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.823000	0.86660	2.145000	0.66743	0.528000	0.53228	TGG		0.493	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		14	38	0	0	0	0.003163	0	14	38				
ACTN2	88	broad.mit.edu	37	1	236890981	236890981	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:236890981G>T	ENST00000366578.4	+	6	706	c.540G>T	c.(538-540)tgG>tgT	p.W180C	ACTN2_ENST00000542672.1_Missense_Mutation_p.W180C|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	180	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.W180C(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGTGAAGCTGGAAAGATGGCC	0.527																																							uc001hyf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(538-540)TGG>TGT		actinin, alpha 2							170.0	139.0	150.0					1																	236890981		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236890981G>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.540G>T	1.37:g.236890981G>T	ENSP00000355537:p.Trp180Cys					ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.W180C	p.W180C	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		6	744	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	180			CH 2.|Actin-binding.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.540G>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398782	0.83120	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.66638	-0.22;-0.22	5.2	5.2	0.72013	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.90140	0.6919	H	0.99249	4.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.94461	0.7676	10	0.87932	D	0	.	18.7382	0.91764	0.0:0.0:1.0:0.0	.	180;180	B2RCS5;P35609	.;ACTN2_HUMAN	C	180	ENSP00000443495:W180C;ENSP00000355537:W180C	ENSP00000355537:W180C	W	+	3	0	ACTN2	234957604	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.869000	0.99810	2.411000	0.81874	0.462000	0.41574	TGG		0.527	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		8	76	1	0	1.12685e-05	0.004482	1.28561e-05	8	76				
ACTN2	88	broad.mit.edu	37	1	236898989	236898989	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:236898989G>T	ENST00000366578.4	+	8	918	c.752G>T	c.(751-753)tGc>tTc	p.C251F	ACTN2_ENST00000542672.1_Intron|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	251	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.C251F(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TACGTCTCTTGCTTCTACCAC	0.522																																							uc001hyf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(751-753)TGC>TTC		actinin, alpha 2							188.0	138.0	155.0					1																	236898989		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236898989G>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.752G>T	1.37:g.236898989G>T	ENSP00000355537:p.Cys251Phe					ACTN2_uc001hyg.2_Missense_Mutation_p.C6F|ACTN2_uc009xgi.1_Intron|ACTN2_uc010pxu.1_Intron	p.C251F	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		8	956	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	251			CH 2.|Actin-binding.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.752G>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895743	0.91962	.	.	ENSG00000077522	ENST00000366578	D	0.94931	-3.56	5.38	5.38	0.77491	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.96312	0.8797	L	0.46885	1.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96607	0.9449	10	0.72032	D	0.01	.	19.4894	0.95044	0.0:0.0:1.0:0.0	.	251	P35609	ACTN2_HUMAN	F	251	ENSP00000355537:C251F	ENSP00000355537:C251F	C	+	2	0	ACTN2	234965612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.677000	0.91161	0.650000	0.86243	TGC		0.522	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		4	75	1	0	0.00024832	0.009096	0.000271513	4	75				
RYR2	6262	broad.mit.edu	37	1	237791358	237791358	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:237791358A>T	ENST00000366574.2	+	41	6735	c.6418A>T	c.(6418-6420)Aag>Tag	p.K2140*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.K2138*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.K2124*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2140	4 X approximate repeats.				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.K2138*(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)			AGAAGAAGAGAAGCTCATGAT	0.423																																							uc001hyl.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6418-6420)AAG>TAG		cardiac muscle ryanodine receptor							115.0	124.0	121.0					1																	237791358		1979	4147	6126	SO:0001587	stop_gained	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.chr1:237791358A>T	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.6418A>T	1.37:g.237791358A>T	ENSP00000355533:p.Lys2140*						p.K2140*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		41	6538	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2140			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.6418A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	47	13.795457	0.99763	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.53	4.38	0.52667	.	0.075123	0.49916	D	0.000133	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-12.4412	12.8805	0.58014	0.8638:0.1362:0.0:0.0	.	.	.	.	X	2140;2138;2124	.	ENSP00000353174:K2138X	K	+	1	0	RYR2	235857981	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.140000	0.58031	1.011000	0.39340	-0.435000	0.05868	AAG		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		20	63	0	0	0	0.002299	0	20	63				
RYR2	6262	broad.mit.edu	37	1	237893570	237893570	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:237893570G>C	ENST00000366574.2	+	77	11166	c.10849G>C	c.(10849-10851)Gtc>Ctc	p.V3617L	RYR2_ENST00000360064.6_Missense_Mutation_p.V3615L|RYR2_ENST00000542537.1_Missense_Mutation_p.V3601L|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3617					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.V3615L(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)			GCATCGGGCTGTCAATCTCTT	0.333																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(10849-10851)GTC>CTC		cardiac muscle ryanodine receptor							77.0	72.0	74.0					1																	237893570		1827	4078	5905	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.chr1:237893570G>C	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.10849G>C	1.37:g.237893570G>C	ENSP00000355533:p.Val3617Leu					RYR2_uc010pya.1_Missense_Mutation_p.V13L	p.V3617L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		77	10969	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3617					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10849G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208784	0.58343	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96651	-4.08;-4.05;-4.07	5.52	5.52	0.82312	.	0.000000	0.56097	D	0.000028	D	0.92851	0.7726	L	0.29908	0.895	0.80722	D	1	B;B	0.33266	0.209;0.404	B;B	0.32465	0.045;0.146	D	0.92037	0.5638	10	0.54805	T	0.06	-20.9798	14.6196	0.68574	0.0:0.0:0.8542:0.1458	.	572;3617	B4DGV4;Q92736	.;RYR2_HUMAN	L	3617;3615;3601;572	ENSP00000355533:V3617L;ENSP00000353174:V3615L;ENSP00000443798:V3601L	ENSP00000353174:V3615L	V	+	1	0	RYR2	235960193	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.913000	0.39956	2.757000	0.94681	0.585000	0.79938	GTC		0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	37	0	0	0	0.00308	0	6	37				
RYR2	6262	broad.mit.edu	37	1	237947412	237947412	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:237947412G>T	ENST00000366574.2	+	90	12717	c.12400G>T	c.(12400-12402)Ggc>Tgc	p.G4134C	RYR2_ENST00000360064.6_Missense_Mutation_p.G4140C|RYR2_ENST00000542537.1_Missense_Mutation_p.G4118C|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4134					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.G4132C(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)			GCCCTTTCTGGGCCGCATCGA	0.517																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12400-12402)GGC>TGC		cardiac muscle ryanodine receptor							67.0	67.0	67.0					1																	237947412		1922	4135	6057	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.chr1:237947412G>T	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.12400G>T	1.37:g.237947412G>T	ENSP00000355533:p.Gly4134Cys					RYR2_uc010pya.1_Missense_Mutation_p.G549C	p.G4134C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12520	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4134					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12400G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595106	0.86953	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97976	-4.64;-4.64;-4.64	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000004	D	0.98645	0.9546	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99828	1.1052	10	0.87932	D	0	.	19.4843	0.95024	0.0:0.0:1.0:0.0	.	1108;4134	B4DGV4;Q92736	.;RYR2_HUMAN	C	4134;4140;4118;1108	ENSP00000355533:G4134C;ENSP00000353174:G4140C;ENSP00000443798:G4118C	ENSP00000353174:G4140C	G	+	1	0	RYR2	236014035	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.610000	0.88304	0.655000	0.94253	GGC		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		30	86	1	0	1.55811e-20	0.008361	2.38026e-20	30	86				
RYR2	6262	broad.mit.edu	37	1	237947550	237947550	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:237947550G>T	ENST00000366574.2	+	90	12855	c.12538G>T	c.(12538-12540)Ggc>Tgc	p.G4180C	RYR2_ENST00000360064.6_Missense_Mutation_p.G4186C|RYR2_ENST00000542537.1_Missense_Mutation_p.G4164C|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4180					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.G4178C(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)			GGTCAACGAAGGCGGAGAGAA	0.502																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12538-12540)GGC>TGC		cardiac muscle ryanodine receptor							89.0	93.0	92.0					1																	237947550		1979	4177	6156	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.chr1:237947550G>T	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.12538G>T	1.37:g.237947550G>T	ENSP00000355533:p.Gly4180Cys					RYR2_uc010pya.1_Missense_Mutation_p.G595C	p.G4180C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12658	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4180					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12538G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373287	0.42105	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.98419	-4.92;-4.92;-4.92	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000005	D	0.99102	0.9691	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;0.969	D;P	0.97110	1.0;0.609	D	0.99712	1.1007	10	0.87932	D	0	.	19.4843	0.95024	0.0:0.0:1.0:0.0	.	1154;4180	B4DGV4;Q92736	.;RYR2_HUMAN	C	4180;4186;4164;1154	ENSP00000355533:G4180C;ENSP00000353174:G4186C;ENSP00000443798:G4164C	ENSP00000353174:G4186C	G	+	1	0	RYR2	236014173	1.000000	0.71417	0.636000	0.29352	0.042000	0.13812	7.895000	0.87343	2.610000	0.88304	0.655000	0.94253	GGC		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		20	136	1	0	5.35267e-07	0.007413	6.38408e-07	20	136				
NLRP3	114548	broad.mit.edu	37	1	247587214	247587214	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:247587214C>T	ENST00000336119.3	+	3	1215	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	NLRP3_ENST00000391827.2_Missense_Mutation_p.R157C|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.R157C|NLRP3_ENST00000391828.3_Missense_Mutation_p.R157C|NLRP3_ENST00000366496.2_Missense_Mutation_p.R157C|NLRP3_ENST00000366497.2_Missense_Mutation_p.R157C	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	157					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.R157C(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGGAATGCCCGTCTGGGTGA	0.517																																							uc001icr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(469-471)CGT>TGT		NLR family, pyrin domain containing 3 isoform a							95.0	76.0	82.0					1																	247587214		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587214C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.469C>T	1.37:g.247587214C>T	ENSP00000337383:p.Arg157Cys					NLRP3_uc001ics.2_Missense_Mutation_p.R157C|NLRP3_uc001icu.2_Missense_Mutation_p.R157C|NLRP3_uc001icw.2_Missense_Mutation_p.R157C|NLRP3_uc001icv.2_Missense_Mutation_p.R157C|NLRP3_uc010pyw.1_Missense_Mutation_p.R155C|NLRP3_uc001ict.1_Missense_Mutation_p.R155C	p.R157C	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	607	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	157					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.469C>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239041	0.58995	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	4.27	4.27	0.50696	.	0.000000	0.51477	D	0.000081	D	0.91576	0.7339	L	0.51914	1.62	0.45427	D	0.998406	P;P;D;D;D	0.89917	0.826;0.851;1.0;1.0;0.982	B;B;D;D;P	0.97110	0.099;0.304;1.0;0.999;0.454	D	0.89811	0.3982	10	0.37606	T	0.19	.	12.5127	0.56015	0.0:1.0:0.0:0.0	.	157;157;157;157;157	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	C	157	ENSP00000375704:R157C;ENSP00000355453:R157C;ENSP00000337383:R157C;ENSP00000294752:R157C;ENSP00000355452:R157C;ENSP00000375703:R157C	ENSP00000337383:R157C	R	+	1	0	NLRP3	245653837	0.026000	0.19158	0.998000	0.56505	0.926000	0.56050	1.055000	0.30467	2.669000	0.90835	0.655000	0.94253	CGT		0.517	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		3	28	0	0	0	0.009096	0	3	28				
OR2T1	26696	broad.mit.edu	37	1	248569432	248569432	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:248569432G>T	ENST00000366474.1	+	1	137	c.137G>T	c.(136-138)gGc>gTc	p.G46V		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTTATATCGGCACAACTGTA	0.383																																							uc010pzm.1		NA																	0				pancreas(1)	1						c.(136-138)GGC>GTC		olfactory receptor, family 2, subfamily T,							154.0	151.0	152.0					1																	248569432		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569432G>T	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.137G>T	1.37:g.248569432G>T	ENSP00000355430:p.Gly46Val						p.G46V	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	137	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		46			Extracellular (Potential).		Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.137G>T	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	G	9.385	1.074052	0.20147	.	.	ENSG00000175143	ENST00000366474	T	0.02656	4.21	4.75	-0.578	0.11724	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45920	-0.9228	9	0.49607	T	0.09	.	4.7001	0.12823	0.4415:0.1567:0.4018:0.0	.	46	O43869	OR2T1_HUMAN	V	46	ENSP00000355430:G46V	ENSP00000355430:G46V	G	+	2	0	OR2T1	246636055	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.359000	0.02602	-0.070000	0.12908	-0.259000	0.10710	GGC		0.383	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			8	144	1	0	3.07112e-06	0.000978	3.56806e-06	8	144				
PGBD2	267002	broad.mit.edu	37	1	249211025	249211025	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:249211025G>T	ENST00000329291.5	+	3	389	c.242G>T	c.(241-243)tGt>tTt	p.C81F	PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000539153.1_Missense_Mutation_p.C78F|PGBD2_ENST00000355360.4_Intron	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	81								p.C81F(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCAGTCCTGTGTGAGGACTCT	0.562																																							uc001ifh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(241-243)TGT>TTT		hypothetical protein LOC267002 isoform a							69.0	64.0	66.0					1																	249211025		2203	4300	6503	SO:0001583	missense	267002							g.chr1:249211025G>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.242G>T	1.37:g.249211025G>T	ENSP00000331643:p.Cys81Phe					PGBD2_uc001ifg.2_Intron|PGBD2_uc009xhd.2_Missense_Mutation_p.C78F	p.C81F	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	389	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	81					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.242G>T	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	G	9.153	1.016758	0.19355	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.11169	2.8;2.8	3.84	1.93	0.25924	.	.	.	.	.	T	0.05364	0.0142	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.36480	-0.9746	9	0.56958	D	0.05	-17.2577	5.4591	0.16607	0.0:0.6653:0.2179:0.1168	.	78;81	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	F	81;78	ENSP00000331643:C81F;ENSP00000439950:C78F	ENSP00000331643:C81F	C	+	2	0	PGBD2	247177648	0.412000	0.25392	0.025000	0.17156	0.138000	0.21146	0.210000	0.17455	0.410000	0.25675	-0.165000	0.13383	TGT		0.562	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			9	43	1	0	3.07112e-06	0.000978	3.56806e-06	9	43				
SEC61A2	55176	broad.mit.edu	37	10	12206397	12206397	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:12206397G>A	ENST00000298428.9	+	12	1464	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	SEC61A2_ENST00000379020.4_Missense_Mutation_p.E393K|SEC61A2_ENST00000304267.8_Intron|SEC61A2_ENST00000495368.1_Intron|SEC61A2_ENST00000379033.3_Missense_Mutation_p.E437K	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	459					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)	p.E459K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				CCAGTATTTTGAAATATTTGT	0.423																																							uc001ile.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1375-1377)GAA>AAA		Sec61 alpha form 2 isoform a							101.0	105.0	103.0					10																	12206397		2203	4300	6503	SO:0001583	missense	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12206397G>A	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.1375G>A	10.37:g.12206397G>A	ENSP00000298428:p.Glu459Lys					SEC61A2_uc010qbq.1_Missense_Mutation_p.E437K|SEC61A2_uc001ilf.3_Intron|SEC61A2_uc001ilh.3_Intron|SEC61A2_uc001ilg.3_Intron	p.E459K	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN			12	1522	+		Renal(717;0.228)	459			Helical; (Potential).		A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	ENST00000298428.9	37	c.1375G>A	CCDS7088.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573245	0.65765	.	.	ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000379020;ENST00000426560	.	.	.	5.91	5.91	0.95273	SecY subunit domain (2);	0.000000	0.64402	D	0.000001	D	0.90328	0.6974	H	0.98701	4.305	0.80722	D	1	P;D	0.55605	0.928;0.972	P;P	0.60236	0.828;0.871	D	0.93648	0.6970	9	0.87932	D	0	-10.3922	19.2867	0.94077	0.0:0.0:1.0:0.0	.	437;459	F8W773;Q9H9S3	.;S61A2_HUMAN	K	437;459;393;207	.	ENSP00000298428:E459K	E	+	1	0	SEC61A2	12246403	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	GAA		0.423	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		17	116	0	0	0	0.006122	0	17	116				
ST8SIA6	338596	broad.mit.edu	37	10	17373458	17373458	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:17373458T>C	ENST00000377602.4	-	5	545	c.471A>G	c.(469-471)gaA>gaG	p.E157E		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	157					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.E157E(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						CTTTTTTGCTTTCCACCTCGT	0.383																																							uc001ipd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(469-471)GAA>GAG		ST8 alpha-N-acetyl-neuraminide							126.0	127.0	127.0					10																	17373458		2203	4300	6503	SO:0001819	synonymous_variant	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17373458T>C		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.471A>G	10.37:g.17373458T>C						ST8SIA6_uc010qce.1_RNA	p.E157E	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN			5	471	-			157			Lumenal (Potential).		B0YJ97|B9EH72|Q5VZH4	Silent	SNP	ENST00000377602.4	37	c.471A>G	CCDS31158.1																																																																																				0.383	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		7	66	0	0	0	0.004482	0	7	66				
SLC39A12	221074	broad.mit.edu	37	10	18331687	18331687	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:18331687G>T	ENST00000377369.2	+	13	2274	c.2001G>T	c.(1999-2001)ctG>ctT	p.L667L	SLC39A12_ENST00000377374.4_Silent_p.L630L|SLC39A12_ENST00000377371.3_Silent_p.L666L|SLC39A12_ENST00000539911.1_Silent_p.L533L	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	667					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.L630L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TGTTTCTCCTGCAAAACTTTG	0.343																																							uc001ipo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1999-2001)CTG>CTT		solute carrier family 39 (zinc transporter),							115.0	110.0	112.0					10																	18331687		2203	4300	6503	SO:0001819	synonymous_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18331687G>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.2001G>T	10.37:g.18331687G>T						SLC39A12_uc001ipn.2_Silent_p.L630L|SLC39A12_uc001ipp.2_Silent_p.L666L|SLC39A12_uc010qck.1_Silent_p.L533L	p.L667L	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			13	2274	+			667			Helical; (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	c.2001G>T	CCDS44362.1																																																																																				0.343	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		26	74	1	0	6.00712e-18	0.002445	8.96076e-18	26	74				
GPR158	57512	broad.mit.edu	37	10	25861766	25861766	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:25861766T>G	ENST00000376351.3	+	7	2062	c.1703T>G	c.(1702-1704)cTc>cGc	p.L568R		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	568					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L568R(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCCGATCACCTCATCTTCAAT	0.433																																							uc001isj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(1702-1704)CTC>CGC		G protein-coupled receptor 158 precursor							176.0	133.0	148.0					10																	25861766		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25861766T>G	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1703T>G	10.37:g.25861766T>G	ENSP00000365529:p.Leu568Arg						p.L568R	NM_020752	NP_065803	Q5T848	GP158_HUMAN			7	1763	+			568			Extracellular (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.1703T>G	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	T	16.28	3.079026	0.55753	.	.	ENSG00000151025	ENST00000376351	D	0.86769	-2.17	5.67	5.67	0.87782	GPCR, family 3, C-terminal (2);	0.178236	0.36555	N	0.002525	D	0.85366	0.5680	L	0.32530	0.975	0.80722	D	1	P	0.38223	0.623	P	0.46885	0.53	T	0.82366	-0.0493	10	0.19147	T	0.46	.	15.9002	0.79369	0.0:0.0:0.0:1.0	.	568	Q5T848	GP158_HUMAN	R	568	ENSP00000365529:L568R	ENSP00000365529:L568R	L	+	2	0	GPR158	25901772	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.161000	0.67846	0.455000	0.32223	CTC		0.433	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		7	59	0	0	0	0.001984	0	7	59				
PTCHD3	374308	broad.mit.edu	37	10	27700774	27700774	+	Missense_Mutation	SNP	T	T	A	rs554952554		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:27700774T>A	ENST00000438700.3	-	2	1291	c.1174A>T	c.(1174-1176)Att>Ttt	p.I392F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	392	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.I392F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ATGATGAGAATGTATGCCAGG	0.353																																							uc001itu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1174-1176)ATT>TTT		patched domain containing 3							82.0	75.0	77.0					10																	27700774		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27700774T>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1174A>T	10.37:g.27700774T>A	ENSP00000417658:p.Ile392Phe						p.I392F	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			2	1292	-			392			SSD.|Helical; (Potential).		I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.1174A>T	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.627522	0.00813	.	.	ENSG00000182077	ENST00000438700	D	0.93859	-3.3	4.38	-8.76	0.00830	Sterol-sensing domain (1);	1.885100	0.02356	N	0.076389	T	0.82148	0.4974	N	0.17379	0.485	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.75309	-0.3363	10	0.12103	T	0.63	-0.1004	3.343	0.07126	0.3186:0.0954:0.084:0.502	.	392	Q3KNS1	PTHD3_HUMAN	F	392	ENSP00000417658:I392F	ENSP00000417658:I392F	I	-	1	0	PTCHD3	27740780	0.478000	0.25917	0.000000	0.03702	0.001000	0.01503	-0.496000	0.06436	-3.053000	0.00259	-2.845000	0.00104	ATT		0.353	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		16	64	0	0	0	0.00499	0	16	64				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																							uc010qex.1		NA																	0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		6	50	0	0	0	0.001168	0	6	50				
VSTM4	196740	broad.mit.edu	37	10	50315879	50315879	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:50315879C>A	ENST00000332853.4	-	2	240	c.217G>T	c.(217-219)Gcc>Tcc	p.A73S	VSTM4_ENST00000298454.3_Missense_Mutation_p.A73S	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	73	Ig-like.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A73S(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						ACCATCAAGGCCTCCTGGGAG	0.612																																							uc001jhf.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(217-219)GCC>TCC		hypothetical protein LOC196740 isoform 1							64.0	63.0	63.0					10																	50315879		2203	4300	6503	SO:0001583	missense	196740					integral to membrane|plasma membrane		g.chr10:50315879C>A	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.217G>T	10.37:g.50315879C>A	ENSP00000331062:p.Ala73Ser					C10orf72_uc001jhh.2_Missense_Mutation_p.A73S	p.A73S	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN			2	246	-			73			Ig-like.|Extracellular (Potential).		B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	c.217G>T	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	C	9.371	1.070482	0.20147	.	.	ENSG00000165633	ENST00000332853;ENST00000298454	T;T	0.65178	-0.14;-0.14	5.93	-0.191	0.13252	.	0.796636	0.12244	N	0.486227	T	0.38746	0.1052	N	0.22421	0.69	0.09310	N	1	B;B	0.23249	0.082;0.007	B;B	0.25140	0.058;0.023	T	0.18304	-1.0341	10	0.22109	T	0.4	-4.2842	1.4537	0.02380	0.1732:0.1327:0.3224:0.3717	.	73;73	Q8IW00-2;Q8IW00	.;VSTM4_HUMAN	S	73	ENSP00000331062:A73S;ENSP00000298454:A73S	ENSP00000298454:A73S	A	-	1	0	VSTM4	49985885	0.202000	0.23423	0.451000	0.26982	0.727000	0.41649	0.188000	0.17018	-0.136000	0.11475	0.655000	0.94253	GCC		0.612	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		11	34	1	0	1.61879e-10	0.001368	2.11326e-10	11	34				
CHAT	1103	broad.mit.edu	37	10	50863202	50863202	+	Missense_Mutation	SNP	C	C	A	rs368957556		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:50863202C>A	ENST00000337653.2	+	12	1849	c.1696C>A	c.(1696-1698)Cgc>Agc	p.R566S	CHAT_ENST00000351556.3_Missense_Mutation_p.R448S|CHAT_ENST00000395559.2_Missense_Mutation_p.R448S|CHAT_ENST00000395562.2_Missense_Mutation_p.R484S|CHAT_ENST00000455728.2_Missense_Mutation_p.R448S|CHAT_ENST00000339797.1_Missense_Mutation_p.R448S	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	566					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.R566S(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)	CCAGGAGGGACGCGTGGACAA	0.587																																							uc001jhz.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(1696-1698)CGC>AGC		choline acetyltransferase isoform 2	Choline(DB00122)						62.0	60.0	61.0					10																	50863202		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50863202C>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.1696C>A	10.37:g.50863202C>A	ENSP00000337103:p.Arg566Ser					CHAT_uc001jhv.1_Missense_Mutation_p.R448S|CHAT_uc001jhx.1_Missense_Mutation_p.R448S|CHAT_uc001jhy.1_Missense_Mutation_p.R448S|CHAT_uc001jia.2_Missense_Mutation_p.R448S|CHAT_uc010qgs.1_Missense_Mutation_p.R448S	p.R566S	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	12	1849	+		all_neural(218;0.107)	566					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1696C>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075244	0.76415	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45;-4.45	5.36	3.35	0.38373	.	0.000000	0.85682	D	0.000000	D	0.98969	0.9649	H	0.97491	4.015	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99414	1.0931	10	0.87932	D	0	-28.5369	14.57	0.68205	0.3865:0.6135:0.0:0.0	.	448;566	F8W8I2;P28329	.;CLAT_HUMAN	S	448;448;448;566;484;448	ENSP00000343486:R448S;ENSP00000345878:R448S;ENSP00000378926:R448S;ENSP00000337103:R566S;ENSP00000378929:R484S;ENSP00000390521:R448S	ENSP00000337103:R566S	R	+	1	0	CHAT	50533208	0.773000	0.28580	0.719000	0.30619	0.982000	0.71751	1.575000	0.36493	1.236000	0.43740	0.591000	0.81541	CGC		0.587	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		12	82	1	0	5.01169e-05	0.00499	5.61081e-05	12	82				
AGAP7P	653268	broad.mit.edu	37	10	51465342	51465342	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:51465342G>T	ENST00000374095.5	-	7	1239	c.1114C>A	c.(1114-1116)Cct>Act	p.P372T		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		372	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.P372T(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TTGGCATGAGGAGAGGGGGGC	0.517																																							uc001jio.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1114-1116)CCT>ACT		ArfGAP with GTPase domain, ankyrin repeat and PH							42.0	54.0	50.0					10																	51465342		2162	4250	6412	SO:0001583	missense	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51465342G>T																												ENST00000374095.5:c.1114C>A	10.37:g.51465342G>T	ENSP00000363208:p.Pro372Thr					PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	p.P372T	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN			7	1240	-			372			PH.		A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	c.1114C>A	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	12.49	1.952955	0.34471	.	.	ENSG00000204169	ENST00000374095	T	0.54479	0.57	.	.	.	Pleckstrin homology domain (3);	0.122447	0.56097	D	0.000031	T	0.56217	0.1970	L	0.52759	1.655	0.53688	D	0.999977	P	0.42123	0.771	P	0.56916	0.809	T	0.51293	-0.8724	9	0.48119	T	0.1	.	5.9763	0.19382	6.0E-4:0.0:0.9994:0.0	.	372	Q5VUJ5	AGAP7_HUMAN	T	372	ENSP00000363208:P372T	ENSP00000363208:P372T	P	-	1	0	AGAP7	51135348	0.934000	0.31675	0.035000	0.18076	0.036000	0.12997	1.205000	0.32308	0.172000	0.19760	0.175000	0.17021	CCT		0.517	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			19	276	1	0	4.35082e-09	0.010504	5.55852e-09	19	276				
NCOA4	8031	broad.mit.edu	37	10	51584632	51584632	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:51584632G>T	ENST00000443446.1	+	8	960	c.731G>T	c.(730-732)tGc>tTc	p.C244F	NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000430396.2_Missense_Mutation_p.C144F|NCOA4_ENST00000374082.1_Missense_Mutation_p.C244F|NCOA4_ENST00000414907.2_Missense_Mutation_p.C78F|NCOA4_ENST00000438493.1_Missense_Mutation_p.C260F|NCOA4_ENST00000452682.1_Missense_Mutation_p.C260F|NCOA4_ENST00000344348.6_Missense_Mutation_p.C244F|NCOA4_ENST00000374087.4_Missense_Mutation_p.C244F	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	244					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.C260F(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TCCAGAGCCTGCAATTTCTTC	0.383			T	RET	papillary thyroid																																		uc001jis.3		NA		Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid 		1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|kidney(1)	2						c.(730-732)TGC>TTC		nuclear receptor coactivator 4 isoform 3							51.0	56.0	54.0					10																	51584632		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584632G>T	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.731G>T	10.37:g.51584632G>T	ENSP00000390713:p.Cys244Phe					PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Missense_Mutation_p.C260F|NCOA4_uc010qhd.1_Missense_Mutation_p.C260F|NCOA4_uc010qhe.1_Missense_Mutation_p.C144F|NCOA4_uc010qhf.1_Missense_Mutation_p.C78F|NCOA4_uc001jit.2_Missense_Mutation_p.C244F|NCOA4_uc009xoo.2_Missense_Mutation_p.C244F	p.C244F	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN			8	934	+			244					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.731G>T	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	G	5.277	0.236487	0.10023	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T;T;T	0.23552	2.5;2.49;2.22;2.5;1.9;2.5;2.21;2.5	6.03	2.05	0.26809	.	0.678033	0.16698	N	0.203245	T	0.24314	0.0589	L	0.61036	1.89	0.09310	N	1	B;B;B;B	0.18461	0.028;0.015;0.028;0.004	B;B;B;B	0.19946	0.027;0.018;0.018;0.008	T	0.23726	-1.0180	10	0.56958	D	0.05	-11.6298	6.2377	0.20772	0.1356:0.0:0.5991:0.2652	.	144;260;260;244	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	F	260;260;144;244;78;244;244;244	ENSP00000405146:C260F;ENSP00000395465:C260F;ENSP00000393053:C144F;ENSP00000363200:C244F;ENSP00000411018:C78F;ENSP00000344552:C244F;ENSP00000363195:C244F;ENSP00000390713:C244F	ENSP00000344552:C244F	C	+	2	0	NCOA4	51254638	0.283000	0.24277	0.007000	0.13788	0.430000	0.31655	1.064000	0.30579	0.116000	0.18110	0.655000	0.94253	TGC		0.383	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		23	92	1	0	1.55795e-14	0.001882	2.22239e-14	23	92				
DKK1	22943	broad.mit.edu	37	10	54074333	54074333	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:54074333C>A	ENST00000373970.3	+	1	278	c.139C>A	c.(139-141)Cca>Aca	p.P47T	PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	47					cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)	p.P47T(1)		kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						GAACCTGCCCCCACCGCTGGG	0.647											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001jjr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|kidney(1)	3						c.(139-141)CCA>ACA		dickkopf homolog 1 precursor							35.0	41.0	39.0					10																	54074333		2200	4294	6494	SO:0001583	missense	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54074333C>A		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.139C>A	10.37:g.54074333C>A	ENSP00000363081:p.Pro47Thr		OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	997	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	p.P47T	NM_012242	NP_036374	O94907	DKK1_HUMAN			1	293	+			47					B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	c.139C>A	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802805	0.50315	.	.	ENSG00000107984	ENST00000373970	T	0.43688	0.94	4.65	3.72	0.42706	.	0.288097	0.31884	N	0.006914	T	0.29389	0.0732	L	0.32530	0.975	0.31449	N	0.670983	B	0.23377	0.084	B	0.21360	0.034	T	0.29640	-1.0005	10	0.56958	D	0.05	-0.9421	7.8126	0.29241	0.0:0.8211:0.0:0.1789	.	47	O94907	DKK1_HUMAN	T	47	ENSP00000363081:P47T	ENSP00000363081:P47T	P	+	1	0	DKK1	53744339	0.219000	0.23619	1.000000	0.80357	0.996000	0.88848	1.160000	0.31761	2.283000	0.76528	0.655000	0.94253	CCA		0.647	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			20	77	1	0	1.28384e-07	0.001882	1.56591e-07	20	77				
PCDH15	65217	broad.mit.edu	37	10	55839091	55839091	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:55839091C>A	ENST00000320301.6	-	17	2485	c.2091G>T	c.(2089-2091)ggG>ggT	p.G697G	PCDH15_ENST00000437009.1_Splice_Site_p.G626G|PCDH15_ENST00000395430.1_Splice_Site_p.G697G|PCDH15_ENST00000395433.1_Splice_Site_p.G675G|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Splice_Site_p.G308G|PCDH15_ENST00000395432.2_Splice_Site_p.G660G|PCDH15_ENST00000373957.3_Splice_Site_p.G675G|PCDH15_ENST00000395438.1_Splice_Site_p.G697G|PCDH15_ENST00000361849.3_Splice_Site_p.G697G|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Splice_Site_p.G702G|PCDH15_ENST00000373965.2_Splice_Site_p.G704G|PCDH15_ENST00000373955.1_Splice_Site_p.G697G|PCDH15_ENST00000395446.1_Splice_Site_p.G697G|PCDH15_ENST00000395445.1_Splice_Site_p.G704G	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	697	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.G697G(2)|p.G702G(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCATACTCACCCCATCTGGCC	0.433										HNSCC(58;0.16)																													uc001jju.1		NA																	4	Substitution - coding silent(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2089-2091)GGG>GGT		protocadherin 15 isoform CD1-4 precursor							201.0	179.0	187.0					10																	55839091		2203	4300	6503	SO:0001630	splice_region_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55839091C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2091+1G>T	10.37:g.55839091C>A		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.G702G|PCDH15_uc010qhr.1_Silent_p.G697G|PCDH15_uc010qhs.1_Silent_p.G709G|PCDH15_uc010qht.1_Silent_p.G704G|PCDH15_uc010qhu.1_Silent_p.G697G|PCDH15_uc001jjv.1_Silent_p.G675G|PCDH15_uc010qhv.1_Silent_p.G697G|PCDH15_uc010qhw.1_Silent_p.G660G|PCDH15_uc010qhx.1_Silent_p.G626G|PCDH15_uc010qhy.1_Silent_p.G702G|PCDH15_uc010qhz.1_Silent_p.G697G|PCDH15_uc010qia.1_Silent_p.G675G|PCDH15_uc010qib.1_Silent_p.G675G|PCDH15_uc001jjw.2_Silent_p.G697G	p.G697G	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			17	2486	-		Melanoma(3;0.117)|Lung SC(717;0.238)	697			Cadherin 6.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.2091G>T	CCDS7248.1																																																																																				0.433	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	Silent	14	88	1	0	1.3612e-06	0.003163	1.59871e-06	14	88				
BICC1	80114	broad.mit.edu	37	10	60548154	60548154	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:60548154G>C	ENST00000373886.3	+	6	575	c.571G>C	c.(571-573)Gga>Cga	p.G191R		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	191	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.G191R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ACAACCAGCAGGAGTAGAATC	0.328																																							uc001jki.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(571-573)GGA>CGA		bicaudal C homolog 1							71.0	78.0	76.0					10																	60548154		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60548154G>C	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.571G>C	10.37:g.60548154G>C	ENSP00000362993:p.Gly191Arg						p.G191R	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			6	571	+			191			KH 1.			Missense_Mutation	SNP	ENST00000373886.3	37	c.571G>C	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647470	0.67358	.	.	ENSG00000122870	ENST00000373886	T	0.28666	1.6	5.65	5.65	0.86999	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.66567	0.2802	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73209	-0.4055	10	0.62326	D	0.03	-15.0416	19.7318	0.96183	0.0:0.0:1.0:0.0	.	191	Q9H694	BICC1_HUMAN	R	191	ENSP00000362993:G191R	ENSP00000362993:G191R	G	+	1	0	BICC1	60218160	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.266000	0.89871	2.661000	0.90470	0.650000	0.86243	GGA		0.328	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		3	18	0	0	0	0.009096	0	3	18				
BICC1	80114	broad.mit.edu	37	10	60577385	60577385	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:60577385G>T	ENST00000373886.3	+	19	2601	c.2597G>T	c.(2596-2598)gGc>gTc	p.G866V		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	866					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.G866V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GGAAGCAATGGCTGTAACTTA	0.463																																							uc001jki.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(2596-2598)GGC>GTC		bicaudal C homolog 1							119.0	110.0	113.0					10																	60577385		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60577385G>T	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2597G>T	10.37:g.60577385G>T	ENSP00000362993:p.Gly866Val						p.G866V	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			19	2597	+			866						Missense_Mutation	SNP	ENST00000373886.3	37	c.2597G>T	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964847	0.92791	.	.	ENSG00000122870	ENST00000373886	T	0.28895	1.59	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	L	0.54323	1.7	0.80722	D	1	P	0.47191	0.891	P	0.49637	0.617	T	0.03374	-1.1043	10	0.14656	T	0.56	-13.5759	18.5242	0.90965	0.0:0.0:1.0:0.0	.	866	Q9H694	BICC1_HUMAN	V	866	ENSP00000362993:G866V	ENSP00000362993:G866V	G	+	2	0	BICC1	60247391	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.726000	0.98782	2.802000	0.96397	0.563000	0.77884	GGC		0.463	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		34	45	1	0	9.8876e-21	0.004878	1.51479e-20	34	45				
ANK3	288	broad.mit.edu	37	10	61844360	61844360	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:61844360C>A	ENST00000280772.2	-	32	4265	c.4074G>T	c.(4072-4074)gaG>gaT	p.E1358D	Y_RNA_ENST00000365320.1_RNA|ANK3_ENST00000355288.2_Splice_Site_p.E492D|ANK3_ENST00000503366.1_Splice_Site_p.E1359D|ANK3_ENST00000373827.2_Splice_Site_p.E1352D	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1358	UPA domain. {ECO:0000250}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.E993D(1)|p.E1358D(1)|p.E492D(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AACAAGGTACCTCAATATCTT	0.358																																							uc001jky.2		NA																	3	Substitution - Missense(3)		lung(3)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(4072-4074)GAG>GAT		ankyrin 3 isoform 1							121.0	118.0	119.0					10																	61844360		2203	4300	6503	SO:0001630	splice_region_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61844360C>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4074+1G>T	10.37:g.61844360C>A						ANK3_uc001jkw.2_Missense_Mutation_p.E492D|ANK3_uc009xpa.2_Missense_Mutation_p.E492D|ANK3_uc001jkx.2_Missense_Mutation_p.E536D|ANK3_uc010qih.1_Missense_Mutation_p.E1359D|ANK3_uc001jkz.3_Missense_Mutation_p.E1352D|ANK3_uc001jla.1_Missense_Mutation_p.E424D|ANK3_uc001jlb.1_Missense_Mutation_p.E876D|ANK3_uc001jkv.2_5'Flank	p.E1358D	NM_020987	NP_066267	Q12955	ANK3_HUMAN			32	4266	-			1358					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.4074G>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	34	5.397173	0.96009	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.63	5.63	0.86233	.	0.000000	0.42682	D	0.000676	T	0.64702	0.2622	M	0.88241	2.94	0.80722	D	1	D;D;D;D;D;P;D	0.76494	0.999;0.982;0.998;0.989;0.997;0.953;0.984	D;P;D;D;D;P;D	0.76071	0.987;0.817;0.985;0.929;0.978;0.814;0.956	T	0.71009	-0.4716	10	0.87932	D	0	.	19.6948	0.96021	0.0:1.0:0.0:0.0	.	1359;492;891;1352;1358;593;492	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	D	1358;1352;492;492;1359;1338;593;993;993;491;891	ENSP00000280772:E1358D;ENSP00000362933:E1352D;ENSP00000347436:E492D;ENSP00000425236:E1359D	ENSP00000280772:E1358D	E	-	3	2	ANK3	61514366	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.714000	0.84703	2.658000	0.90341	0.561000	0.74099	GAG		0.358	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	Missense_Mutation	32	97	1	0	1.13719e-10	0.008361	1.48816e-10	32	97				
UNC5B	219699	broad.mit.edu	37	10	73050706	73050706	+	Silent	SNP	G	G	T	rs370509511		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:73050706G>T	ENST00000335350.6	+	9	1550	c.1134G>T	c.(1132-1134)gcG>gcT	p.A378A	UNC5B_ENST00000373192.4_Silent_p.A367A	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	378					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.A378A(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CGCTGTATGCGGGGCTCGTGG	0.657																																							uc001jro.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(1132-1134)GCG>GCT		unc-5 homolog B precursor							153.0	154.0	154.0					10																	73050706		2203	4300	6503	SO:0001819	synonymous_variant	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73050706G>T	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1134G>T	10.37:g.73050706G>T						UNC5B_uc001jrp.2_Silent_p.A367A	p.A378A	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN			9	1579	+			378			Helical; (Potential).		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	ENST00000335350.6	37	c.1134G>T	CCDS7309.1																																																																																				0.657	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		46	245	1	0	1.17673e-23	0.00361	1.86647e-23	46	245				
CDH23	64072	broad.mit.edu	37	10	73330613	73330613	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:73330613G>T	ENST00000224721.6	+	7	711	c.706G>T	c.(706-708)Gac>Tac	p.D236Y	CDH23_ENST00000398809.4_Missense_Mutation_p.D231Y|CDH23_ENST00000398842.3_Missense_Mutation_p.D231Y|CDH23_ENST00000461841.3_Missense_Mutation_p.D276Y|CDH23_ENST00000299366.7_Missense_Mutation_p.D276Y	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	231	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.D236Y(1)|p.D231Y(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGATGTCCAGGACATGGACCC	0.527											OREG0020254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001jrx.3		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(691-693)GAC>TAC		cadherin-like 23 isoform 1 precursor							159.0	158.0	158.0					10																	73330613		2134	4252	6386	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73330613G>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.706G>T	10.37:g.73330613G>T	ENSP00000224721:p.Asp236Tyr		OREG0020254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1144	CDH23_uc001jrw.3_Missense_Mutation_p.D231Y|CDH23_uc009xql.2_Missense_Mutation_p.D276Y	p.D231Y	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			8	1068	+			231			Cadherin 2.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.691G>T		.	.	.	.	.	.	.	.	.	.	g	19.70	3.877076	0.72180	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721	T;T	0.03065	4.06;4.06	5.19	5.19	0.71726	Cadherin (3);Cadherin-like (1);	0.070999	0.52532	D	0.000073	T	0.34337	0.0894	H	0.98048	4.135	0.80722	D	1	D;P;D	0.89917	0.999;0.951;1.0	P;P;D	0.87578	0.882;0.615;0.998	T	0.58994	-0.7537	10	0.87932	D	0	.	19.147	0.93472	0.0:0.0:1.0:0.0	.	231;231;231	A5D6V9;Q9H251;Q9H251-5	.;CAD23_HUMAN;.	Y	236;231;231;231;231;236;236	ENSP00000381789:D231Y;ENSP00000381822:D231Y	ENSP00000224721:D236Y	D	+	1	0	CDH23	73000619	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.128000	0.94424	2.590000	0.87494	0.450000	0.29827	GAC		0.527	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		11	70	1	0	4.68919e-08	0.008291	5.80489e-08	11	70				
C10orf105	414152	broad.mit.edu	37	10	73468968	73468968	+	IGR	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:73468968G>T	ENST00000441508.2	-	0	4837				CDH23_ENST00000224721.6_Splice_Site_p.D1079Y	NM_001164375.2	NP_001157847.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)		p.D1079Y(1)									GGAGGCCATCGGTATGCACCA	0.612																																							uc001jrx.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(3220-3222)GAC>TAC		cadherin-like 23 isoform 1 precursor							67.0	83.0	78.0					10																	73468968		2123	4222	6345	SO:0001628	intergenic_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73468968G>T	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427		10.37:g.73468968G>T						CDH23_uc001jrz.2_Missense_Mutation_p.D690Y	p.D1074Y	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			26	3597	+			1074			Cadherin 10.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000441508.2	37	c.3220G>T	CCDS44430.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584133	0.65992	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000224721;ENST00000442677	.	.	.	4.85	4.85	0.62838	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.86653	0.5984	H	0.98388	4.22	0.80722	D	1	D;P	0.57257	0.979;0.86	P;P	0.54889	0.763;0.657	D	0.92557	0.6055	9	0.87932	D	0	.	17.9838	0.89150	0.0:0.0:1.0:0.0	.	1074;1074	Q6P152;Q9H251	.;CAD23_HUMAN	Y	1079;1074;1074;1077;591	.	ENSP00000224721:D1079Y	D	+	1	0	CDH23	73138974	1.000000	0.71417	0.992000	0.48379	0.155000	0.21991	9.771000	0.98977	2.244000	0.73946	0.557000	0.71058	GAC		0.612	C10orf105-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		6	40	1	0	5.18039e-06	0.00308	5.99923e-06	6	40				
VCL	7414	broad.mit.edu	37	10	75842254	75842254	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:75842254A>G	ENST00000211998.4	+	7	920	c.826A>G	c.(826-828)Aaa>Gaa	p.K276E	VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.K276E	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	276	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.K276E(1)	VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CATAGACTCCAAACTGAACCA	0.453																																							uc001jwd.2		NA																VCL/ALK(4)	1	Substitution - Missense(1)		lung(1)	kidney(4)|ovary(1)|central_nervous_system(1)	6						c.(826-828)AAA>GAA		vinculin isoform meta-VCL							86.0	79.0	81.0					10																	75842254		2203	4300	6503	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75842254A>G	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.826A>G	10.37:g.75842254A>G	ENSP00000211998:p.Lys276Glu					VCL_uc009xrr.2_Missense_Mutation_p.K25E|VCL_uc010qky.1_Missense_Mutation_p.K183E|VCL_uc001jwe.2_Missense_Mutation_p.K276E|VCL_uc010qkz.1_Intron	p.K276E	NM_014000	NP_054706	P18206	VINC_HUMAN			7	920	+	Prostate(51;0.0112)		276			1.|N-terminal globular head.|3 X 112 AA tandem repeats.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.826A>G	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.496198	0.85069	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043	T;T	0.79352	-1.26;-1.26	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.87462	0.6183	M	0.74258	2.255	0.80722	D	1	D;D;D	0.61080	0.989;0.989;0.979	D;D;D	0.74023	0.974;0.974;0.982	D	0.88742	0.3244	10	0.66056	D	0.02	.	15.7019	0.77549	1.0:0.0:0.0:0.0	.	203;276;276	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	E	276;276;183;203	ENSP00000361841:K276E;ENSP00000211998:K276E	ENSP00000211998:K276E	K	+	1	0	VCL	75512260	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.936000	0.92931	2.108000	0.64289	0.524000	0.50904	AAA		0.453	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		6	55	0	0	0	0.004482	0	6	55				
ZMIZ1	57178	broad.mit.edu	37	10	81053264	81053264	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:81053264G>T	ENST00000334512.5	+	12	1656	c.1084G>T	c.(1084-1086)Ggc>Tgc	p.G362C	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	362	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G362C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GGGGATGAGCGGCCCTCCCAT	0.731																																							uc001kaf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(1084-1086)GGC>TGC		retinoic acid induced 17							26.0	36.0	33.0					10																	81053264		2186	4284	6470	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81053264G>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1084G>T	10.37:g.81053264G>T	ENSP00000334474:p.Gly362Cys					ZMIZ1_uc001kag.2_Missense_Mutation_p.G238C|ZMIZ1_uc001kah.1_Missense_Mutation_p.G244C	p.G362C	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		12	1656	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		362			Pro-rich.		Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.1084G>T	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892590	0.91889	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.34072	1.38	4.91	4.91	0.64330	.	0.000000	0.39274	U	0.001417	T	0.56307	0.1976	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	T	0.59773	-0.7391	10	0.72032	D	0.01	-17.1585	18.0871	0.89461	0.0:0.0:1.0:0.0	.	278;362	Q9H7J0;Q9ULJ6	.;ZMIZ1_HUMAN	C	362;292;269	ENSP00000334474:G362C	ENSP00000334474:G362C	G	+	1	0	ZMIZ1	80723270	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.364000	0.97136	2.273000	0.75805	0.313000	0.20887	GGC		0.731	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		20	88	1	0	2.37509e-13	0.010504	3.31344e-13	20	88				
MAT1A	4143	broad.mit.edu	37	10	82045298	82045298	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:82045298T>A	ENST00000372213.3	-	2	399	c.139A>T	c.(139-141)Aag>Tag	p.K47*		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	47					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)	p.K47*(1)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GGGTCTTGCTTGAGATGGGCA	0.463																																							uc001kbw.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(139-141)AAG>TAG		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						122.0	105.0	111.0					10																	82045298		2203	4300	6503	SO:0001587	stop_gained	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82045298T>A		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.139A>T	10.37:g.82045298T>A	ENSP00000361287:p.Lys47*						p.K47*	NM_000429	NP_000420	Q00266	METK1_HUMAN	Colorectal(32;0.229)		2	394	-			47					D3DWD5|Q5QP09	Nonsense_Mutation	SNP	ENST00000372213.3	37	c.139A>T	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	T	32	5.182184	0.94885	.	.	ENSG00000151224	ENST00000372213;ENST00000372206;ENST00000455001	.	.	.	5.92	0.394	0.16299	.	0.327661	0.39909	N	0.001233	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-19.1813	13.6855	0.62513	0.0:0.0:0.5168:0.4832	.	.	.	.	X	47;47;25	.	ENSP00000361280:K47X	K	-	1	0	MAT1A	82035278	0.887000	0.30362	0.989000	0.46669	0.996000	0.88848	1.566000	0.36396	0.098000	0.17522	0.528000	0.53228	AAG		0.463	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		6	103	0	0	0	0.001984	0	6	103				
NRG3	10718	broad.mit.edu	37	10	84738815	84738815	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:84738815C>T	ENST00000404547.1	+	8	1522	c.1522C>T	c.(1522-1524)Cca>Tca	p.P508S	NRG3_ENST00000545131.1_Missense_Mutation_p.P158S|NRG3_ENST00000404576.2_Missense_Mutation_p.P312S|NRG3_ENST00000372142.2_Missense_Mutation_p.P287S|NRG3_ENST00000556918.1_Missense_Mutation_p.P338S|NRG3_ENST00000372141.2_Missense_Mutation_p.P508S|NRG3_ENST00000537893.1_Missense_Mutation_p.P158S			P56975	NRG3_HUMAN	neuregulin 3	508					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.P508S(1)|p.P287S(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AATTGTGGGACCAGCATATCA	0.527																																							uc001kco.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)|breast(1)	6						c.(1522-1524)CCA>TCA		neuregulin 3 isoform 1							112.0	95.0	101.0					10																	84738815		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84738815C>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1522C>T	10.37:g.84738815C>T	ENSP00000384796:p.Pro508Ser					NRG3_uc010qlz.1_Missense_Mutation_p.P507S|NRG3_uc001kcp.2_Missense_Mutation_p.P287S|NRG3_uc001kcq.2_Missense_Mutation_p.P158S|NRG3_uc001kcr.2_Missense_Mutation_p.P158S	p.P508S	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	8	1549	+			508			Cytoplasmic (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.1522C>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360867	0.82353	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.59364	1.14;1.17;1.15;0.27;0.27;0.27;0.27	5.79	5.79	0.91817	.	0.064498	0.64402	D	0.000006	T	0.74558	0.3732	M	0.62723	1.935	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.87578	0.998;0.981;0.998;0.973	T	0.75022	-0.3464	10	0.62326	D	0.03	-19.2116	17.6117	0.88055	0.0:1.0:0.0:0.0	.	507;508;287;508	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	S	508;508;507;287;312;338;158;158	ENSP00000361214:P508S;ENSP00000384796:P508S;ENSP00000361215:P287S;ENSP00000385804:P312S;ENSP00000451376:P338S;ENSP00000441201:P158S;ENSP00000440377:P158S	ENSP00000361214:P508S	P	+	1	0	NRG3	84728795	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.271000	0.65553	2.759000	0.94783	0.558000	0.71614	CCA		0.527	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		23	30	0	0	0	0.005443	0	23	30				
KIF20B	9585	broad.mit.edu	37	10	91522499	91522499	+	Silent	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:91522499A>T	ENST00000371728.3	+	29	4961	c.4896A>T	c.(4894-4896)ccA>ccT	p.P1632P	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Silent_p.P1592P|KIF20B_ENST00000394289.2_Silent_p.P1632P|KIF20B_ENST00000416354.1_Silent_p.P1662P	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1632	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.P1592P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CTTTACAGCCAAACAAAATGG	0.413																																							uc001kgs.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(4894-4896)CCA>CCT		M-phase phosphoprotein 1							80.0	74.0	76.0					10																	91522499		2203	4300	6503	SO:0001819	synonymous_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91522499A>T	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.4896A>T	10.37:g.91522499A>T						KIF20B_uc001kgr.1_Silent_p.P1592P|KIF20B_uc001kgt.1_Silent_p.P843P|KIF20B_uc009xtw.1_RNA	p.P1632P	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			29	4968	+			1632			Interaction with PIN1.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37	c.4896A>T																																																																																					0.413	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		8	57	0	0	0	0.00308	0	8	57				
PLCE1	51196	broad.mit.edu	37	10	95791988	95791988	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:95791988G>T	ENST00000371380.3	+	1	1420	c.1185G>T	c.(1183-1185)ctG>ctT	p.L395L	PLCE1_ENST00000260766.3_Silent_p.L395L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	395					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.L395L(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCCAACGTCTGTCAGAAGCCC	0.403																																							uc001kjk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1183-1185)CTG>CTT		phospholipase C, epsilon 1 isoform 1							93.0	94.0	94.0					10																	95791988		1903	4128	6031	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791988G>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1185G>T	10.37:g.95791988G>T						PLCE1_uc010qnx.1_Silent_p.L395L	p.L395L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			2	1819	+		Colorectal(252;0.0458)	395					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.1185G>T	CCDS41552.1																																																																																				0.403	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		18	46	1	0	2.52088e-20	0.00278	3.84559e-20	18	46				
PIK3AP1	118788	broad.mit.edu	37	10	98388154	98388154	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:98388154C>A	ENST00000339364.5	-	9	1591		c.e9+1		PIK3AP1_ENST00000468783.1_Intron|PIK3AP1_ENST00000371110.2_Splice_Site|PIK3AP1_ENST00000371109.3_Splice_Site	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1						negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTATGACTTACCTTCTAAAAA	0.463																																							uc001kmq.2		NA																	1	Unknown(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.e9+1		phosphoinositide-3-kinase adaptor protein 1							157.0	161.0	160.0					10																	98388154		2203	4300	6503	SO:0001630	splice_region_variant	118788					cytoplasm|plasma membrane		g.chr10:98388154C>A	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1471+1G>T	10.37:g.98388154C>A						PIK3AP1_uc001kmo.2_Splice_Site_p.G90_splice|PIK3AP1_uc001kmp.2_Splice_Site_p.G313_splice	p.G491_splice	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	9	1599	-		Colorectal(252;0.0442)						Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Splice_Site	SNP	ENST00000339364.5	37	c.1471_splice	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495022	0.64186	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.856	0.92252	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIK3AP1	98378144	1.000000	0.71417	0.999000	0.59377	0.738000	0.42128	4.935000	0.63498	2.753000	0.94483	0.655000	0.94253	.		0.463	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309	Intron	59	199	1	0	2.32991e-14	0.00361	3.3192e-14	59	199				
PIK3AP1	118788	broad.mit.edu	37	10	98469379	98469379	+	Silent	SNP	G	G	A	rs530974413		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:98469379G>A	ENST00000339364.5	-	2	494	c.375C>T	c.(373-375)acC>acT	p.T125T		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	125	Necessary and sufficent to mediate inhibition of NF-kappa-B downstream of activated TLRs; may mediate interaction with MYD88 and TIRAP. {ECO:0000250}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.T125T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CATCGTCACAGGTGAGCTCCT	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17232	0.0		0.0	False		,,,				2504	0.0						uc001kmq.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(373-375)ACC>ACT		phosphoinositide-3-kinase adaptor protein 1							66.0	64.0	65.0					10																	98469379		2203	4300	6503	SO:0001819	synonymous_variant	118788					cytoplasm|plasma membrane		g.chr10:98469379G>A	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.375C>T	10.37:g.98469379G>A							p.T125T	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	2	503	-		Colorectal(252;0.0442)	125					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	c.375C>T	CCDS31259.1																																																																																				0.537	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		19	63	0	0	0	0.002299	0	19	63				
CYP17A1	1586	broad.mit.edu	37	10	104593791	104593791	+	Splice_Site	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:104593791A>G	ENST00000369887.3	-	4	925		c.e4+1		CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1						adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	TCTATCACCTACCTTGTAATT	0.363																																							uc001kwg.2		NA																	1	Unknown(1)		lung(1)		0						c.e4+1		cytochrome P450, family 17	NADH(DB00157)|Progesterone(DB00396)						129.0	118.0	122.0					10																	104593791		2202	4299	6501	SO:0001630	splice_region_variant	1586				androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	g.chr10:104593791A>G	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.753+1T>C	10.37:g.104593791A>G							p.K251_splice	NM_000102	NP_000093	P05093	CP17A_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	4	925	-		Colorectal(252;0.122)|all_hematologic(284;0.152)						Q5TZV7	Splice_Site	SNP	ENST00000369887.3	37	c.753_splice	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	a	14.36	2.511889	0.44660	.	.	ENSG00000148795	ENST00000369887	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1288	0.53932	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYP17A1	104583781	1.000000	0.71417	0.985000	0.45067	0.025000	0.11179	7.625000	0.83145	1.941000	0.56285	0.375000	0.23000	.		0.363	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102	Intron	11	20	0	0	0	0.001855	0	11	20				
SORCS3	22986	broad.mit.edu	37	10	106970900	106970900	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:106970900A>C	ENST00000369701.3	+	17	2494	c.2267A>C	c.(2266-2268)tAt>tCt	p.Y756S	SORCS3_ENST00000369699.4_Missense_Mutation_p.Y42S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	756					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.Y756S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GACAGTGACTATGGGTATGAG	0.443																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2266-2268)TAT>TCT		VPS10 domain receptor protein SORCS 3 precursor							98.0	83.0	88.0					10																	106970900		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106970900A>C	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2267A>C	10.37:g.106970900A>C	ENSP00000358715:p.Tyr756Ser					SORCS3_uc010qqz.1_RNA	p.Y756S	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	17	2494	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	756			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2267A>C	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.507470	0.85282	.	.	ENSG00000156395	ENST00000369701;ENST00000393176;ENST00000369699	T;T;T	0.36699	2.14;1.5;1.24	5.93	5.93	0.95920	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.66257	0.2771	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71391	-0.4607	9	.	.	.	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	756	Q9UPU3	SORC3_HUMAN	S	756;117;42	ENSP00000358715:Y756S;ENSP00000376876:Y117S;ENSP00000358713:Y42S	.	Y	+	2	0	SORCS3	106960890	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.962000	0.93254	2.281000	0.76405	0.533000	0.62120	TAT		0.443	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		16	24	0	0	0	0.008871	0	16	24				
SORCS3	22986	broad.mit.edu	37	10	106970934	106970934	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:106970934C>T	ENST00000369701.3	+	17	2528	c.2301C>T	c.(2299-2301)gtC>gtT	p.V767V	SORCS3_ENST00000369699.4_Silent_p.V53V	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	767					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.V767V(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCCAGTGTGTCCCAGCTTTCT	0.448																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2299-2301)GTC>GTT		VPS10 domain receptor protein SORCS 3 precursor							119.0	99.0	106.0					10																	106970934		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106970934C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2301C>T	10.37:g.106970934C>T						SORCS3_uc010qqz.1_RNA	p.V767V	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	17	2528	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	767			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.2301C>T	CCDS7558.1																																																																																				0.448	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		6	37	0	0	0	0.001984	0	6	37				
SORCS1	114815	broad.mit.edu	37	10	108431126	108431126	+	Splice_Site	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:108431126C>T	ENST00000263054.6	-	16	2066		c.e16-1		SORCS1_ENST00000369698.1_Splice_Site|SORCS1_ENST00000344440.6_Splice_Site	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1						neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.?(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATGCTTCCCCCTGTAAGCAGA	0.428																																							uc001kym.2		NA																	2	Unknown(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.e16-1		SORCS receptor 1 isoform a							181.0	160.0	167.0					10																	108431126		2203	4300	6503	SO:0001630	splice_region_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108431126C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2059-1G>A	10.37:g.108431126C>T						SORCS1_uc001kyl.2_Splice_Site_p.G687_splice|SORCS1_uc009xxs.2_Splice_Site_p.G687_splice|SORCS1_uc001kyn.1_Splice_Site_p.G687_splice|SORCS1_uc001kyo.2_Splice_Site_p.G687_splice	p.G687_splice	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	16	2067	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)						A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Splice_Site	SNP	ENST00000263054.6	37	c.2059_splice	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521477	0.64747	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SORCS1	108421116	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	.		0.428	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	Intron	45	103	0	0	0	0.00361	0	45	103				
SHOC2	8036	broad.mit.edu	37	10	112764372	112764372	+	Silent	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:112764372A>G	ENST00000369452.4	+	5	1326	c.981A>G	c.(979-981)ttA>ttG	p.L327L	SHOC2_ENST00000265277.5_Silent_p.L281L|SHOC2_ENST00000489390.1_3'UTR	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	327					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)	p.L327L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AGAGTCTTTTATCAAGTCTTG	0.363																																							uc001kzl.3		NA																	2	Substitution - coding silent(2)		lung(1)|kidney(1)	ovary(1)|skin(1)	2						c.(979-981)TTA>TTG		soc-2 suppressor of clear homolog							79.0	79.0	79.0					10																	112764372		2203	4300	6503	SO:0001819	synonymous_variant	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112764372A>G	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.981A>G	10.37:g.112764372A>G						SHOC2_uc009xxx.2_Silent_p.L327L|SHOC2_uc010qrg.1_5'UTR|SHOC2_uc001kzn.2_Silent_p.L281L	p.L327L	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	5	1330	+			327			LRR 10.		A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Silent	SNP	ENST00000369452.4	37	c.981A>G	CCDS7568.1																																																																																				0.363	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		15	62	0	0	0	0.003163	0	15	62				
GPR123	84435	broad.mit.edu	37	10	134940764	134940764	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:134940764C>T	ENST00000392607.3	+	6	865	c.429C>T	c.(427-429)ccC>ccT	p.P143P	GPR123_ENST00000392606.2_Silent_p.P46P|GPR123_ENST00000607359.1_Silent_p.P863P	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	143					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P863P(1)|p.P143P(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GAGGGGTCCCCTTTATCATCT	0.647																																							uc001llx.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(427-429)CCC>CCT		G protein-coupled receptor 123							55.0	47.0	50.0					10																	134940764		2203	4298	6501	SO:0001819	synonymous_variant	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134940764C>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.429C>T	10.37:g.134940764C>T						GPR123_uc001llw.2_Silent_p.P863P	p.P143P	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	6	865	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	143			Helical; Name=4; (Potential).		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000392607.3	37	c.429C>T	CCDS41580.1																																																																																				0.647	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			5	13	0	0	0	0.00308	0	5	13				
TUBGCP2	10844	broad.mit.edu	37	10	135106116	135106116	+	Silent	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:135106116T>G	ENST00000252936.3	-	7	1140	c.1101A>C	c.(1099-1101)acA>acC	p.T367T	TUBGCP2_ENST00000368562.1_5'Flank|TUBGCP2_ENST00000417178.2_Silent_p.T237T|TUBGCP2_ENST00000543663.1_Silent_p.T395T|RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000368563.2_Silent_p.T367T			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	367					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.T367T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GGCTGTCCCCTGTGTAGCTGA	0.607																																							uc001lmg.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1099-1101)ACA>ACC		tubulin, gamma complex associated protein 2							115.0	98.0	104.0					10																	135106116		2203	4300	6503	SO:0001819	synonymous_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135106116T>G	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1101A>C	10.37:g.135106116T>G						TUBGCP2_uc001lmf.1_5'Flank|TUBGCP2_uc010qvc.1_Silent_p.T395T|TUBGCP2_uc009ybk.1_Silent_p.T367T|TUBGCP2_uc010qvd.1_Silent_p.T237T|TUBGCP2_uc001lmh.1_RNA	p.T367T	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	8	1458	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	367					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	c.1101A>C	CCDS7676.1																																																																																				0.607	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			15	20	0	0	0	0.007413	0	15	20				
CALY	50632	broad.mit.edu	37	10	135139522	135139522	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:135139522G>T	ENST00000252939.4	-	5	556	c.463C>A	c.(463-465)Cgc>Agc	p.R155S	CALY_ENST00000467611.1_5'UTR|ZNF511_ENST00000368554.4_Intron|CALY_ENST00000368558.1_3'UTR|RP11-122K13.14_ENST00000605518.1_lincRNA	NM_015722.3	NP_056537.1	Q9NYX4	CALY_HUMAN	calcyon neuron-specific vesicular protein	155					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)|endocytosis (GO:0006897)|positive regulation of endocytosis (GO:0045807)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)	clathrin light chain binding (GO:0032051)	p.R155S(1)		kidney(1)|lung(2)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	Apomorphine(DB00714)|Clozapine(DB00363)|Trifluoperazine(DB00831)	CCGTGCTTGCGGCTCAGCGGG	0.736																																							uc001lmo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(463-465)CGC>AGC		dopamine receptor D1 interacting protein	Apomorphine(DB00714)|Clozapine(DB00363)|Flupenthixol(DB00875)|Trifluoperazine(DB00831)						11.0	8.0	9.0					10																	135139522		2148	4223	6371	SO:0001583	missense	50632				clathrin coat assembly|dopamine receptor signaling pathway|endocytosis|positive regulation of endocytosis	cytoplasmic vesicle membrane|integral to plasma membrane	clathrin light chain binding|dopamine receptor binding	g.chr10:135139522G>T	AF225903	CCDS7678.1	10q26.3	2008-07-02	2008-01-16	2008-01-16	ENSG00000130643	ENSG00000130643			17938	protein-coding gene	gene with protein product		604647	"""dopamine receptor D1 interacting protein"""	DRD1IP		10698743, 17623072	Standard	NM_015722		Approved	CALCYON, NSG3	uc001lmo.2	Q9NYX4	OTTHUMG00000019310	ENST00000252939.4:c.463C>A	10.37:g.135139522G>T	ENSP00000252939:p.Arg155Ser					uc001lmn.2_5'Flank	p.R155S	NM_015722	NP_056537	Q9NYX4	CALY_HUMAN		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	5	621	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	155			Cytoplasmic (Potential).		Q5VWX3|Q5VWY5|Q5VWY6	Missense_Mutation	SNP	ENST00000252939.4	37	c.463C>A	CCDS7678.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344105	0.61073	.	.	ENSG00000130643	ENST00000252939	.	.	.	3.49	2.56	0.30785	.	0.097665	0.39274	N	0.001413	T	0.69187	0.3083	M	0.68317	2.08	0.80722	D	1	D	0.69078	0.997	D	0.79784	0.993	T	0.69982	-0.4997	9	0.87932	D	0	-5.0323	8.1064	0.30887	0.0:0.0:0.7591:0.2409	.	155	Q9NYX4	CALY_HUMAN	S	155	.	ENSP00000252939:R155S	R	-	1	0	CALY	134989512	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	1.210000	0.32370	1.019000	0.39547	-0.534000	0.04291	CGC		0.736	CALY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051122.1	NM_015722		4	2	1	0	0.000602214	0.000602	0.000649234	4	2				
RRM1	6240	broad.mit.edu	37	11	4132861	4132861	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:4132861A>C	ENST00000300738.5	+	6	682	c.478A>C	c.(478-480)Aat>Cat	p.N160H	RRM1_ENST00000423050.2_Missense_Mutation_p.N63H	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	160					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.N160H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	GTTGAAGATCAATGGAAAAGG	0.333																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	uc001lyw.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(478-480)AAT>CAT		ribonucleoside-diphosphate reductase M1 chain	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						132.0	134.0	133.0					11																	4132861		2201	4298	6499	SO:0001583	missense	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4132861A>C	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.478A>C	11.37:g.4132861A>C	ENSP00000300738:p.Asn160His					RRM1_uc009yeh.1_Missense_Mutation_p.N63H|RRM1_uc009yei.2_Missense_Mutation_p.N120H|RRM1_uc010qyc.1_Missense_Mutation_p.N63H	p.N160H	NM_001033	NP_001024	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	6	797	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	160					Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	c.478A>C	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.982112	0.53827	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894	T;T	0.33654	1.4;1.42	5.65	5.65	0.86999	Ribonucleotide reductase large subunit, N-terminal (1);Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase R1 subunit, N-terminal (1);	0.045277	0.85682	D	0.000000	T	0.37019	0.0988	L	0.61218	1.895	0.80722	D	1	B	0.18610	0.029	B	0.25405	0.06	T	0.28586	-1.0039	10	0.59425	D	0.04	-14.2947	9.5392	0.39242	0.9217:0.0:0.0783:0.0	.	160	P23921	RIR1_HUMAN	H	160;63;73	ENSP00000300738:N160H;ENSP00000390539:N63H	ENSP00000300738:N160H	N	+	1	0	RRM1	4089437	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.620000	0.61226	2.142000	0.66516	0.533000	0.62120	AAT		0.333	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		23	55	0	0	0	0.00632	0	23	55				
OR52K1	390036	broad.mit.edu	37	11	4511052	4511052	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:4511052C>A	ENST00000307632.3	+	1	944	c.922C>A	c.(922-924)Cta>Ata	p.L308I		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L308I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGTGCTCAGTCTATTCCAGAG	0.403																																							uc001lza.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(922-924)CTA>ATA		olfactory receptor, family 52, subfamily K,							103.0	97.0	99.0					11																	4511052		2201	4298	6499	SO:0001583	missense	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4511052C>A	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.922C>A	11.37:g.4511052C>A	ENSP00000302422:p.Leu308Ile						p.L308I	NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	922	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	308			Cytoplasmic (Potential).		B9EH54|Q6IFK5	Missense_Mutation	SNP	ENST00000307632.3	37	c.922C>A	CCDS31352.1	.	.	.	.	.	.	.	.	.	.	C	1.450	-0.565153	0.03939	.	.	ENSG00000196778	ENST00000307632	T	0.40756	1.02	3.95	3.03	0.35002	.	0.243724	0.21714	N	0.070229	T	0.22859	0.0552	N	0.17901	0.54	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.18272	-1.0342	10	0.05833	T	0.94	.	11.0976	0.48155	0.0:0.9058:0.0:0.0942	.	308	Q8NGK4	O52K1_HUMAN	I	308	ENSP00000302422:L308I	ENSP00000302422:L308I	L	+	1	2	OR52K1	4467628	0.000000	0.05858	0.038000	0.18304	0.126000	0.20510	-0.324000	0.07986	1.240000	0.43803	0.411000	0.27672	CTA		0.403	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		80	115	1	0	2.1672e-28	0.00361	3.50988e-28	80	115				
OR51B2	79345	broad.mit.edu	37	11	5345399	5345399	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:5345399G>T	ENST00000328813.2	-	1	183	c.129C>A	c.(127-129)ctC>ctA	p.L43L	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L43L(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAGGTAGAGGAGCATGCCAT	0.522																																							uc001mao.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(127-129)CTC>CTA		olfactory receptor, family 51, subfamily B,							134.0	112.0	119.0					11																	5345399		2201	4297	6498	SO:0001819	synonymous_variant	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5345399G>T	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.129C>A	11.37:g.5345399G>T						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.L43L	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	184	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	43			Helical; Name=1; (Potential).		Q96RD4	Silent	SNP	ENST00000328813.2	37	c.129C>A	CCDS31377.1																																																																																				0.522	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		19	85	1	0	7.41877e-09	0.001882	9.37796e-09	19	85				
UBQLN3	50613	broad.mit.edu	37	11	5530285	5530285	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:5530285C>A	ENST00000311659.4	-	2	651	c.504G>T	c.(502-504)gtG>gtT	p.V168V	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	168								p.V168V(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAGCTGAGTCACAAACTCAG	0.582																																					Ovarian(72;684 1260 12332 41642 52180)	Ovarian(72;684 1260 12332 41642 52180)	uc001may.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(502-504)GTG>GTT		ubiquilin 3							59.0	57.0	58.0					11																	5530285		2201	4297	6498	SO:0001819	synonymous_variant	50613							g.chr11:5530285C>A	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.504G>T	11.37:g.5530285C>A						HBG2_uc001mak.1_Intron	p.V168V	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	590	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	168					Q9NRE0	Silent	SNP	ENST00000311659.4	37	c.504G>T	CCDS7758.1																																																																																				0.582	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		21	47	1	0	3.8784e-16	0.001882	5.62186e-16	21	47				
OR56B1	387748	broad.mit.edu	37	11	5758106	5758106	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:5758106G>T	ENST00000317121.3	+	1	426	c.360G>T	c.(358-360)gaG>gaT	p.E120D	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E120D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TGGGCATGGAGTCTGGTATCC	0.438																																							uc001mbt.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(358-360)GAG>GAT		olfactory receptor, family 56, subfamily B,							174.0	151.0	159.0					11																	5758106		2201	4297	6498	SO:0001583	missense	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758106G>T	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.360G>T	11.37:g.5758106G>T	ENSP00000322939:p.Glu120Asp					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.E120D|OR56B1_uc009yev.1_Missense_Mutation_p.E120D	p.E120D	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	360	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	120			Helical; Name=3; (Potential).		B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP	ENST00000317121.3	37	c.360G>T	CCDS31395.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441337	0.63067	.	.	ENSG00000181023	ENST00000317121	T	0.00354	7.92	5.7	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	U	0.000400	T	0.00724	0.0024	M	0.76938	2.355	0.26094	N	0.980904	D	0.89917	1.0	D	0.91635	0.999	T	0.35076	-0.9803	10	0.66056	D	0.02	-10.0444	10.3589	0.43980	0.1596:0.0:0.8404:0.0	.	120	Q8NGI3	O56B1_HUMAN	D	120	ENSP00000322939:E120D	ENSP00000322939:E120D	E	+	3	2	OR56B1	5714682	0.001000	0.12720	1.000000	0.80357	0.946000	0.59487	-0.408000	0.07169	0.769000	0.33313	0.655000	0.94253	GAG		0.438	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		19	65	1	0	8.34094e-07	0.008871	9.84999e-07	19	65				
Unknown	0	broad.mit.edu	37	11	5989550	5989550	+	IGR	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:5989550G>A								OR56A3 (19959 upstream) : OR52L1 (17571 downstream)																							AGGGGCTGGTGCAGAGAGGCT	0.602																																							uc010qzu.1		NA																	0					0						c.(175-177)CAC>TAC		olfactory receptor, family 56, subfamily A,							69.0	76.0	74.0					11																	5989550		692	1591	2283	SO:0001628	intergenic_variant	390084					integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5989550G>A																													11.37:g.5989550G>A							p.H59Y	NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN			1	175	-			59			Cytoplasmic (Potential).			Missense_Mutation	SNP		37	c.175C>T																																																																																				0	0.602									7	45	0	0	0	0.004482	0	7	45				
NLRP14	338323	broad.mit.edu	37	11	7063623	7063623	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:7063623T>C	ENST00000299481.4	+	4	712	c.366T>C	c.(364-366)gaT>gaC	p.D122D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	122					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.D122D(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACTTAGGTGATGGAACAGAAT	0.343																																							uc001mfb.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(364-366)GAT>GAC		NLR family, pyrin domain containing 14							41.0	49.0	46.0					11																	7063623		2186	4288	6474	SO:0001819	synonymous_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7063623T>C	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.366T>C	11.37:g.7063623T>C							p.D122D	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	689	+			122					Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.366T>C	CCDS7776.1																																																																																				0.343	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		41	50	0	0	0	0.00361	0	41	50				
TEAD1	7003	broad.mit.edu	37	11	12883843	12883843	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:12883843G>C	ENST00000527575.1	+	3	362	c.249G>C	c.(247-249)aaG>aaC	p.K83N	TEAD1_ENST00000361985.2_Missense_Mutation_p.K83N|TEAD1_ENST00000361905.4_Missense_Mutation_p.K68N|TEAD1_ENST00000527636.1_Missense_Mutation_p.K83N|TEAD1_ENST00000334310.6_Missense_Mutation_p.K68N			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	83					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K68N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGACAGGCAAGACGAGGACCA	0.443																																							uc001mkj.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(202-204)AAG>AAC		TEA domain family member 1							124.0	109.0	114.0					11																	12883843		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12883843G>C	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000527575.1:c.249G>C	11.37:g.12883843G>C	ENSP00000435977:p.Lys83Asn					TEAD1_uc009ygk.2_RNA	p.K68N	NM_021961	NP_068780	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	4	869	+			83			TEA.		A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000527575.1	37	c.204G>C		.	.	.	.	.	.	.	.	.	.	G	22.7	4.329112	0.81690	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.79	5.79	0.91817	.	0.042847	0.85682	D	0.000000	T	0.75554	0.3865	M	0.94021	3.485	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.81282	-0.1003	10	0.87932	D	0	-12.8855	12.921	0.58232	0.0745:0.0:0.9255:0.0	.	83	P28347	TEAD1_HUMAN	N	68;83;83;68;83	ENSP00000355332:K68N;ENSP00000435233:K83N;ENSP00000435977:K83N;ENSP00000334754:K68N;ENSP00000354588:K83N	ENSP00000334754:K68N	K	+	3	2	TEAD1	12840419	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.828000	0.75308	2.734000	0.93682	0.655000	0.94253	AAG		0.443	TEAD1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000386888.1	NM_021961		17	26	0	0	0	0.008871	0	17	26				
NELL1	4745	broad.mit.edu	37	11	21592478	21592478	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:21592478C>A	ENST00000357134.5	+	18	2301	c.2149C>A	c.(2149-2151)Cgg>Agg	p.R717R	NELL1_ENST00000532434.1_Silent_p.R670R|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000298925.5_Silent_p.R745R|NELL1_ENST00000325319.5_Silent_p.R660R	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	717	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.R717R(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TCAGCAGTGTCGGTGTCTGGT	0.443																																							uc001mqe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(2149-2151)CGG>AGG		nel-like 1 isoform 1 precursor							183.0	176.0	179.0					11																	21592478		2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21592478C>A	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2149C>A	11.37:g.21592478C>A						NELL1_uc001mqf.2_Silent_p.R670R|NELL1_uc009yid.2_Silent_p.R745R|NELL1_uc010rdo.1_Silent_p.R660R|NELL1_uc010rdp.1_Silent_p.R430R|NELL1_uc001mqh.2_Silent_p.R262R	p.R717R	NM_006157	NP_006148	Q92832	NELL1_HUMAN			18	2302	+			717			VWFC 4.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.2149C>A	CCDS7855.1																																																																																				0.443	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		29	87	1	0	1.7881e-09	0.008361	2.30633e-09	29	87				
ABTB2	25841	broad.mit.edu	37	11	34218874	34218874	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:34218874T>C	ENST00000435224.2	-	3	1666	c.1242A>G	c.(1240-1242)gaA>gaG	p.E414E	ABTB2_ENST00000298992.2_Silent_p.E228E|ABTB2_ENST00000530814.1_5'UTR	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	414					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)		p.E228E(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				ATCCCTACCGTTCATTGTTCA	0.577																																							uc001mvl.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(682-684)GAA>GAG		ankyrin repeat and BTB (POZ) domain containing							55.0	56.0	55.0					11																	34218874		2202	4298	6500	SO:0001819	synonymous_variant	25841						DNA binding	g.chr11:34218874T>C	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1242A>G	11.37:g.34218874T>C							p.E228E	NM_145804	NP_665803	Q8N961	ABTB2_HUMAN			3	914	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	228					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	ENST00000435224.2	37	c.684A>G	CCDS7890.2																																																																																				0.577	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		22	64	0	0	0	0.010504	0	22	64				
LRRC4C	57689	broad.mit.edu	37	11	40136679	40136679	+	Silent	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:40136679A>G	ENST00000278198.2	-	2	3127	c.1164T>C	c.(1162-1164)acT>acC	p.T388T	LRRC4C_ENST00000528697.1_Silent_p.T388T|LRRC4C_ENST00000530763.1_Silent_p.T388T|LRRC4C_ENST00000527150.1_Silent_p.T388T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	388	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.T388T(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTCCATTTGGAGTAATCCAAG	0.483																																							uc001mxa.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(1162-1164)ACT>ACC		netrin-G1 ligand precursor							149.0	133.0	138.0					11																	40136679		2203	4300	6503	SO:0001819	synonymous_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136679A>G	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1164T>C	11.37:g.40136679A>G						LRRC4C_uc001mxc.1_Silent_p.T384T|LRRC4C_uc001mxd.1_Silent_p.T384T|LRRC4C_uc001mxb.1_Silent_p.T384T	p.T388T	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	3128	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	388			Ig-like C2-type.		A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	c.1164T>C	CCDS31464.1																																																																																				0.483	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		50	147	0	0	0	0.00361	0	50	147				
CD82	3732	broad.mit.edu	37	11	44640631	44640631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:44640631C>A	ENST00000227155.4	+	10	1007	c.759C>A	c.(757-759)tgC>tgA	p.C253*	CD82_ENST00000342935.3_Nonsense_Mutation_p.C228*|CD82_ENST00000530931.1_3'UTR	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	253						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.C253*(1)		large_intestine(1)|ovary(1)	2						TCTGCTTGTGCCGGCACGTCC	0.652																																							uc001myc.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(757-759)TGC>TGA		CD82 antigen isoform 1							141.0	119.0	126.0					11																	44640631		2203	4299	6502	SO:0001587	stop_gained	3732					integral to plasma membrane	protein binding	g.chr11:44640631C>A	U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"""CD molecules"", ""Tetraspanins"""	6210	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 6"", ""R2 leukocyte antigen"""	600623	"""kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))"", ""CD82 antigen"""	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.759C>A	11.37:g.44640631C>A	ENSP00000227155:p.Cys253*					CD82_uc001myd.2_Nonsense_Mutation_p.C228*	p.C253*	NM_002231	NP_002222	P27701	CD82_HUMAN			10	1007	+			253			Cytoplasmic (Potential).		D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	Nonsense_Mutation	SNP	ENST00000227155.4	37	c.759C>A	CCDS7909.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.917198	0.73098	.	.	ENSG00000085117	ENST00000227155;ENST00000342935;ENST00000524750	.	.	.	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1084	0.53825	0.0:1.0:0.0:0.0	.	.	.	.	X	253;228;43	.	ENSP00000227155:C253X	C	+	3	2	CD82	44597207	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.530000	0.45641	1.896000	0.54893	0.462000	0.41574	TGC		0.652	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389886.1			7	72	1	0	2.0095e-06	0.001984	2.34478e-06	7	72				
PTPRJ	5795	broad.mit.edu	37	11	48185982	48185982	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:48185982A>G	ENST00000418331.2	+	24	4122	c.3770A>G	c.(3769-3771)tAc>tGc	p.Y1257C		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1257	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.Y1257C(2)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CGTCTCATCTACCAGATAGAG	0.478																																							uc001ngp.3		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)|kidney(3)|ovary(1)|skin(1)	8						c.(3769-3771)TAC>TGC		protein tyrosine phosphatase, receptor type, J							224.0	190.0	201.0					11																	48185982		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48185982A>G	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.3770A>G	11.37:g.48185982A>G	ENSP00000400010:p.Tyr1257Cys						p.Y1257C	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			24	4125	+			1257			Tyrosine-protein phosphatase.|Cytoplasmic (Potential).		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.3770A>G	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.294816	0.60086	.	.	ENSG00000149177	ENST00000418331	D	0.83250	-1.7	4.64	4.64	0.57946	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	.	.	.	.	T	0.79701	0.4491	N	0.04260	-0.245	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.81881	-0.0729	9	0.41790	T	0.15	.	12.3086	0.54915	1.0:0.0:0.0:0.0	.	1257	Q12913	PTPRJ_HUMAN	C	1257	ENSP00000400010:Y1257C	ENSP00000400010:Y1257C	Y	+	2	0	PTPRJ	48142558	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	5.761000	0.68801	1.859000	0.53934	0.528000	0.53228	TAC		0.478	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			23	71	0	0	0	0.002299	0	23	71				
OR4A47	403253	broad.mit.edu	37	11	48511074	48511074	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:48511074G>T	ENST00000446524.1	+	1	806	c.730G>T	c.(730-732)Gtg>Ttg	p.V244L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V244L(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CCACATGACTGTGGTTGTCTT	0.418																																							uc010rhx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(730-732)GTG>TTG		olfactory receptor, family 4, subfamily A,							184.0	177.0	180.0					11																	48511074		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511074G>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.730G>T	11.37:g.48511074G>T	ENSP00000412752:p.Val244Leu						p.V244L	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			1	730	+			244			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000446524.1	37	c.730G>T	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	15.97	2.989133	0.53934	.	.	ENSG00000237388	ENST00000446524	T	0.00216	8.53	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000170	T	0.00967	0.0032	H	0.96916	3.905	0.34273	D	0.681219	D	0.89917	1.0	D	0.87578	0.998	T	0.20605	-1.0270	10	0.87932	D	0	.	14.873	0.70474	0.0:0.0:1.0:0.0	.	244	Q6IF82	O4A47_HUMAN	L	244	ENSP00000412752:V244L	ENSP00000412752:V244L	V	+	1	0	OR4A47	48467650	0.148000	0.22702	1.000000	0.80357	0.397000	0.30659	2.182000	0.42556	2.082000	0.62665	0.205000	0.17691	GTG		0.418	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		71	236	1	0	1.15074e-40	0.00361	1.91849e-40	71	236				
OR4A15	81328	broad.mit.edu	37	11	55135624	55135624	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:55135624T>A	ENST00000314706.3	+	1	265	c.265T>A	c.(265-267)Ttt>Att	p.F89I		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F89I(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CCCCATGTACTTTTTTCTGGC	0.413																																							uc010rif.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(265-267)TTT>ATT		olfactory receptor, family 4, subfamily A,																																				SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135624T>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.265T>A	11.37:g.55135624T>A	ENSP00000325065:p.Phe89Ile						p.F89I	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	265	+			89			Helical; Name=2; (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.265T>A	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	t	19.17	3.774970	0.70107	.	.	ENSG00000181958	ENST00000314706	T	0.00557	6.62	3.39	2.25	0.28309	GPCR, rhodopsin-like superfamily (1);	0.126168	0.35805	N	0.002971	T	0.01835	0.0058	M	0.88105	2.93	0.32369	N	0.55606	D	0.53885	0.963	P	0.61328	0.887	T	0.09729	-1.0661	10	0.72032	D	0.01	.	6.4793	0.22053	0.0:0.1248:0.0:0.8752	.	89	Q8NGL6	O4A15_HUMAN	I	89	ENSP00000325065:F89I	ENSP00000325065:F89I	F	+	1	0	OR4A15	54892200	0.001000	0.12720	0.772000	0.31596	0.981000	0.71138	0.049000	0.14099	0.407000	0.25591	0.341000	0.21757	TTT		0.413	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		19	153	0	0	0	0.002299	0	19	153				
OR4C15	81309	broad.mit.edu	37	11	55322128	55322128	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:55322128T>G	ENST00000314644.2	+	1	346	c.346T>G	c.(346-348)Ttg>Gtg	p.L116V		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L116V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GTACTTCTTCTTGGGCTTCCT	0.448										HNSCC(20;0.049)																													uc010rig.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(346-348)TTG>GTG		olfactory receptor, family 4, subfamily C,							181.0	144.0	157.0					11																	55322128		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322128T>G	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.346T>G	11.37:g.55322128T>G	ENSP00000324958:p.Leu116Val	HNSCC(20;0.049)					p.L116V	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	346	+			62			Helical; Name=2; (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.346T>G	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.599004	0.46318	.	.	ENSG00000181939	ENST00000314644	T	0.14022	2.54	5.08	-3.14	0.05250	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.48277	0.1491	H	0.97077	3.935	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.47535	-0.9110	9	0.87932	D	0	.	13.5639	0.61806	0.0:0.7189:0.0:0.2811	.	62	Q8NGM1	OR4CF_HUMAN	V	116	ENSP00000324958:L116V	ENSP00000324958:L116V	L	+	1	2	OR4C15	55078704	0.787000	0.28750	0.025000	0.17156	0.603000	0.37013	0.165000	0.16564	-0.721000	0.04929	0.312000	0.20444	TTG		0.448	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		22	230	0	0	0	0.002299	0	22	230				
TRIM51	84767	broad.mit.edu	37	11	55653101	55653101	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:55653101C>A	ENST00000449290.2	+	2	289	c.197C>A	c.(196-198)aCt>aAt	p.T66N	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	66						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.T66N(1)									AACCTCAACACTGACATTTGT	0.493																																							uc010rip.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(196-198)ACT>AAT		SPRY domain containing 5							36.0	31.0	32.0					11																	55653101		692	1591	2283	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653101C>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.197C>A	11.37:g.55653101C>A	ENSP00000395086:p.Thr66Asn					SPRYD5_uc010riq.1_5'Flank	p.T66N	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			2	289	+		all_epithelial(135;0.226)	66					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.197C>A		.	.	.	.	.	.	.	.	.	.	.	6.184	0.402080	0.11696	.	.	ENSG00000124900	ENST00000449290	D	0.83755	-1.76	0.803	0.803	0.18691	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.76069	0.3936	N	0.08118	0	0.09310	N	1	D	0.62365	0.991	P	0.59115	0.852	T	0.65446	-0.6166	9	0.51188	T	0.08	.	7.5005	0.27516	0.0:0.9999:0.0:1.0E-4	.	66	Q9BSJ1	SPRY5_HUMAN	N	66	ENSP00000395086:T66N	ENSP00000395086:T66N	T	+	2	0	SPRYD5	55409677	0.047000	0.20315	0.004000	0.12327	0.014000	0.08584	0.377000	0.20552	0.752000	0.32923	0.152000	0.16155	ACT		0.493	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		7	18	1	0	1.12685e-05	0.004482	1.28561e-05	7	18				
OR8H3	390152	broad.mit.edu	37	11	55889871	55889871	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:55889871C>A	ENST00000313472.3	+	1	23	c.23C>A	c.(22-24)aCa>aAa	p.T8K		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T8K(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)					AGGAATGACACAAATGTGGCT	0.463																																							uc001nii.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(22-24)ACA>AAA		olfactory receptor, family 8, subfamily H,							168.0	160.0	163.0					11																	55889871		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55889871C>A	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.23C>A	11.37:g.55889871C>A	ENSP00000323928:p.Thr8Lys						p.T8K	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	23	+	Esophageal squamous(21;0.00693)		8			Extracellular (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.23C>A	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640082	0.47153	.	.	ENSG00000181761	ENST00000313472	T	0.04758	3.56	3.43	3.43	0.39272	.	0.141230	0.33980	N	0.004370	T	0.23572	0.0570	M	0.89534	3.04	0.09310	N	1	D	0.62365	0.991	P	0.61328	0.887	T	0.10660	-1.0620	10	0.87932	D	0	.	14.8972	0.70651	0.0:1.0:0.0:0.0	.	8	Q8N146	OR8H3_HUMAN	K	8	ENSP00000323928:T8K	ENSP00000323928:T8K	T	+	2	0	OR8H3	55646447	0.000000	0.05858	0.009000	0.14445	0.053000	0.15095	0.866000	0.27954	1.616000	0.50265	0.162000	0.16502	ACA		0.463	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		18	161	1	0	6.94344e-10	0.006122	8.9989e-10	18	161				
OR8H1	219469	broad.mit.edu	37	11	56058272	56058272	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:56058272G>T	ENST00000313022.2	-	1	294	c.267C>A	c.(265-267)aaC>aaA	p.N89K		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N89K(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AGGAAATATAGTTGGAAGTCA	0.408																																							uc010rje.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(265-267)AAC>AAA		olfactory receptor, family 8, subfamily H,							264.0	261.0	262.0					11																	56058272		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058272G>T	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.267C>A	11.37:g.56058272G>T	ENSP00000323595:p.Asn89Lys						p.N89K	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	267	-	Esophageal squamous(21;0.00448)		89			Extracellular (Potential).		B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.267C>A	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.811187	0.00074	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.35605	1.3	3.94	0.828	0.18841	GPCR, rhodopsin-like superfamily (1);	0.835317	0.10564	N	0.659961	T	0.09335	0.0230	N	0.00652	-1.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32719	-0.9896	10	0.18710	T	0.47	.	3.44	0.07460	0.0868:0.1479:0.4619:0.3034	.	89	Q8NGG4	OR8H1_HUMAN	K	89;85	ENSP00000323595:N89K	ENSP00000323595:N89K	N	-	3	2	OR8H1	55814848	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-2.082000	0.01365	0.357000	0.24183	-0.332000	0.08345	AAC		0.408	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		73	351	1	0	3.41413e-29	0.00361	5.54603e-29	73	351				
OR5M9	390162	broad.mit.edu	37	11	56230358	56230358	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:56230358G>T	ENST00000279791.1	-	1	519	c.520C>A	c.(520-522)Cac>Aac	p.H174N		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H174N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CAATAGAAGTGATTGATTTCA	0.408																																							uc010rjj.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(520-522)CAC>AAC		olfactory receptor, family 5, subfamily M,							91.0	94.0	93.0					11																	56230358		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230358G>T	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.520C>A	11.37:g.56230358G>T	ENSP00000279791:p.His174Asn						p.H174N	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	520	-	Esophageal squamous(21;0.00448)		174			Extracellular (Potential).		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.520C>A	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293113	0.60086	.	.	ENSG00000150269	ENST00000279791	T	0.00123	8.7	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000286	T	0.00496	0.0016	M	0.82193	2.58	0.27750	N	0.944189	D	0.89917	1.0	D	0.97110	1.0	T	0.38394	-0.9663	10	0.72032	D	0.01	-10.2007	14.4832	0.67597	0.0:0.0:1.0:0.0	.	174	Q8NGP3	OR5M9_HUMAN	N	174	ENSP00000279791:H174N	ENSP00000279791:H174N	H	-	1	0	OR5M9	55986934	0.618000	0.27051	0.998000	0.56505	0.869000	0.49853	1.092000	0.30927	2.084000	0.62774	0.542000	0.68232	CAC		0.408	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		32	50	1	0	6.90743e-12	0.003755	9.42877e-12	32	50				
OR5M8	219484	broad.mit.edu	37	11	56257998	56257998	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:56257998C>T	ENST00000327216.2	-	1	873	c.849G>A	c.(847-849)atG>atA	p.M283I		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M283I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TAAGGTTCAGCATAGGGATTA	0.328																																							uc001nix.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(847-849)ATG>ATA		olfactory receptor, family 5, subfamily M,							44.0	51.0	49.0					11																	56257998		2201	4295	6496	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56257998C>T	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.849G>A	11.37:g.56257998C>T	ENSP00000323354:p.Met283Ile						p.M283I	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	849	-	Esophageal squamous(21;0.00352)		283			Helical; Name=7; (Potential).		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.849G>A	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	C	6.921	0.539668	0.13250	.	.	ENSG00000181371	ENST00000327216	T	0.37411	1.2	4.26	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	U	0.000257	T	0.31638	0.0803	M	0.73598	2.24	0.30569	N	0.763691	P	0.35456	0.502	B	0.27608	0.081	T	0.44590	-0.9318	10	0.72032	D	0.01	-35.2081	5.7259	0.18013	0.1917:0.7051:0.0:0.1032	.	283	Q8NGP6	OR5M8_HUMAN	I	283	ENSP00000323354:M283I	ENSP00000323354:M283I	M	-	3	0	OR5M8	56014574	0.004000	0.15560	0.994000	0.49952	0.013000	0.08279	0.397000	0.20883	0.933000	0.37291	-0.268000	0.10319	ATG		0.328	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		5	92	0	0	0	0.001984	0	5	92				
OR5M11	219487	broad.mit.edu	37	11	56310500	56310500	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:56310500G>T	ENST00000528616.2	-	1	257	c.234C>A	c.(232-234)acC>acA	p.T78T		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T78T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ACATCTGCGGGGTTGCATTTG	0.423																																							uc010rjl.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(232-234)ACC>ACA		olfactory receptor, family 5, subfamily M,							123.0	123.0	123.0					11																	56310500		2156	4270	6426	SO:0001819	synonymous_variant	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310500G>T	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.234C>A	11.37:g.56310500G>T							p.T78T	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN			1	234	-			78			Extracellular (Potential).		B2RNL5|B2RNL7	Silent	SNP	ENST00000528616.2	37	c.234C>A	CCDS53629.1																																																																																				0.423	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		25	104	1	0	5.35356e-11	0.00278	7.05726e-11	25	104				
SLC43A3	29015	broad.mit.edu	37	11	57193057	57193057	+	Missense_Mutation	SNP	T	T	C	rs200802164		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:57193057T>C	ENST00000395123.2	-	4	575	c.271A>G	c.(271-273)Atc>Gtc	p.I91V	SLC43A3_ENST00000529554.1_Missense_Mutation_p.I91V|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000352187.1_Missense_Mutation_p.I91V|SLC43A3_ENST00000533524.1_Missense_Mutation_p.I104V|SLC43A3_ENST00000395124.1_Missense_Mutation_p.I91V	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	91					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.I91V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CGGTCAAAGATGTAGCCAGTG	0.522																																							uc001nkg.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(271-273)ATC>GTC		solute carrier family 43, member 3							130.0	115.0	120.0					11																	57193057		2201	4296	6497	SO:0001583	missense	29015				transmembrane transport	integral to membrane		g.chr11:57193057T>C	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.271A>G	11.37:g.57193057T>C	ENSP00000378555:p.Ile91Val					PRG2_uc001nke.2_5'Flank|SLC43A3_uc001nkh.2_Missense_Mutation_p.I91V|SLC43A3_uc010rjr.1_Missense_Mutation_p.I104V|SLC43A3_uc009yme.2_Missense_Mutation_p.I91V|SLC43A3_uc001nki.2_Missense_Mutation_p.I91V|SLC43A3_uc009ymf.1_Missense_Mutation_p.I91V|SLC43A3_uc010rjs.1_Missense_Mutation_p.I91V|SLC43A3_uc009ymg.1_Missense_Mutation_p.I104V	p.I91V	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN			4	681	-			91			Helical; (Potential).		B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	c.271A>G	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.489349	0.26686	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524;ENST00000530005;ENST00000529113;ENST00000525474;ENST00000529112;ENST00000528187;ENST00000529494;ENST00000533245;ENST00000533235;ENST00000524863;ENST00000532795	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.4	3.08	0.35506	Major facilitator superfamily domain, general substrate transporter (1);	0.456970	0.23556	N	0.046918	T	0.30230	0.0758	L	0.35341	1.055	0.32588	N	0.527626	P;B;B	0.39352	0.669;0.101;0.305	B;B;B	0.40659	0.175;0.194;0.336	T	0.32771	-0.9894	10	0.22706	T	0.39	-27.22	7.6719	0.28463	0.0:0.2465:0.0:0.7535	.	91;104;91	B4DV87;E7EQD2;Q8NBI5	.;.;S43A3_HUMAN	V	91;91;91;91;104;91;38;91;91;104;91;91;91;91;91	ENSP00000378555:I91V;ENSP00000378556:I91V;ENSP00000337561:I91V;ENSP00000436254:I91V;ENSP00000434515:I104V;ENSP00000435893:I91V;ENSP00000434293:I38V;ENSP00000436055:I91V;ENSP00000434913:I91V;ENSP00000435273:I104V;ENSP00000433974:I91V;ENSP00000431762:I91V;ENSP00000435156:I91V;ENSP00000434569:I91V;ENSP00000435109:I91V	ENSP00000337561:I91V	I	-	1	0	SLC43A3	56949633	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.715000	0.25822	0.361000	0.24292	0.459000	0.35465	ATC		0.522	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		10	84	0	0	0	0.000978	0	10	84				
OR9Q2	219957	broad.mit.edu	37	11	57958655	57958655	+	Silent	SNP	T	T	C	rs200891777		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:57958655T>C	ENST00000311591.3	+	1	750	c.693T>C	c.(691-693)gcT>gcC	p.A231A		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A231A(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TCCACTCTGCTGGAGGCCGGG	0.522																																							uc010rka.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(691-693)GCT>GCC		olfactory receptor, family 9, subfamily Q,							130.0	119.0	123.0					11																	57958655		2201	4296	6497	SO:0001819	synonymous_variant	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958655T>C	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.693T>C	11.37:g.57958655T>C							p.A231A	NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN			1	693	+		Breast(21;0.0589)	231			Cytoplasmic (Potential).			Silent	SNP	ENST00000311591.3	37	c.693T>C	CCDS31544.1																																																																																				0.522	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		12	89	0	0	0	0.001368	0	12	89				
GLYATL1	92292	broad.mit.edu	37	11	58715346	58715346	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:58715346T>C	ENST00000317391.4	+	5	434	c.94T>C	c.(94-96)Tat>Cat	p.Y32H	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.Y63H	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	32						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)	p.Y32H(1)|p.Y63H(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TGGCTCTGTGTATCACATCAA	0.498																																							uc001nnf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(94-96)TAT>CAT		SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	Glycine(DB00145)						132.0	113.0	119.0					11																	58715346		2201	4295	6496	SO:0001583	missense	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58715346T>C	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.94T>C	11.37:g.58715346T>C	ENSP00000322223:p.Tyr32His					uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.Y63H|GLYATL1_uc001nni.1_Missense_Mutation_p.Y32H|GLYATL1_uc001nnj.1_Missense_Mutation_p.Y32H	p.Y32H			Q969I3	GLYL1_HUMAN			5	470	+			32					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.94T>C	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	13.02	2.113612	0.37339	.	.	ENSG00000166840	ENST00000525608;ENST00000526351;ENST00000444580;ENST00000317391;ENST00000532726;ENST00000300079	T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42	3.4	2.21	0.28008	Glycine N-acyltransferase, N-terminal (1);	1.027230	0.07949	U	0.980530	T	0.31451	0.0797	L	0.52573	1.65	0.09310	N	1	P;D	0.59357	0.832;0.985	P;D	0.63703	0.648;0.917	T	0.14172	-1.0482	10	0.87932	D	0	.	6.3438	0.21337	0.0:0.0:0.2558:0.7442	.	63;32	Q969I3-2;Q969I3	.;GLYL1_HUMAN	H	32;55;32;32;32;63	ENSP00000433716:Y32H;ENSP00000434652:Y55H;ENSP00000322223:Y32H;ENSP00000436116:Y32H;ENSP00000300079:Y63H	ENSP00000300079:Y63H	Y	+	1	0	GLYATL1	58471922	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.364000	0.07583	0.341000	0.23771	0.338000	0.21704	TAT		0.498	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		27	84	0	0	0	0.002445	0	27	84				
OR4D11	219986	broad.mit.edu	37	11	59271426	59271426	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:59271426C>T	ENST00000313253.1	+	1	378	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I126I(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						ACATGGCCATCTCCAAGCCCC	0.517																																							uc001noa.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(376-378)ATC>ATT		olfactory receptor, family 4, subfamily D,							179.0	162.0	168.0					11																	59271426		2201	4295	6496	SO:0001819	synonymous_variant	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271426C>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.378C>T	11.37:g.59271426C>T							p.I126I	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	378	+			126			Cytoplasmic (Potential).			Silent	SNP	ENST00000313253.1	37	c.378C>T	CCDS31563.1																																																																																				0.517	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		54	214	0	0	0	0.00361	0	54	214				
MS4A7	58475	broad.mit.edu	37	11	60152572	60152572	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:60152572C>A	ENST00000300184.3	+	3	355	c.159C>A	c.(157-159)atC>atA	p.I53I	MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Silent_p.I53I|MS4A7_ENST00000358246.1_Intron|MS4A7_ENST00000534016.1_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	53						integral component of membrane (GO:0016021)		p.I53I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CTGTCCAGATCCTGTGTTGCC	0.428																																							uc001npe.2		NA																	2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(1)|central_nervous_system(1)	2						c.(157-159)ATC>ATA		membrane-spanning 4-domains, subfamily A, member							154.0	153.0	153.0					11																	60152572		2203	4300	6503	SO:0001819	synonymous_variant	58475					integral to membrane	receptor activity	g.chr11:60152572C>A	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.159C>A	11.37:g.60152572C>A						MS4A7_uc001npf.2_Silent_p.I53I|MS4A7_uc001npg.2_Intron|MS4A7_uc001nph.2_Intron|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Intron	p.I53I	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN			3	304	+			53			Helical; (Potential).		A6NP53|Q6IAG8	Silent	SNP	ENST00000300184.3	37	c.159C>A	CCDS7985.1																																																																																				0.428	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			48	179	1	0	5.13769e-22	0.00361	8.0309e-22	48	179				
DAK	26007	broad.mit.edu	37	11	61110055	61110055	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:61110055G>T	ENST00000394900.3	+	9	929	c.700G>T	c.(700-702)Gcc>Tcc	p.A234S		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	234	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)	p.A234S(1)|p.A234T(1)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GATGGCAACCGCCGATGAGAT	0.622																																							uc001nre.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(700-702)GCC>TCC		dihydroxyacetone kinase 2							92.0	88.0	89.0					11																	61110055		2203	4299	6502	SO:0001583	missense	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61110055G>T		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.700G>T	11.37:g.61110055G>T	ENSP00000378360:p.Ala234Ser					DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Missense_Mutation_p.A164S	p.A234S	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN			9	957	+			234			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	c.700G>T	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242728	0.39598	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.31247	1.5;1.5	5.78	0.477	0.16784	Dak kinase (2);	0.417036	0.27464	N	0.019256	T	0.23410	0.0566	L	0.39245	1.2	0.09310	N	1	P;B	0.36647	0.563;0.218	B;B	0.41691	0.364;0.307	T	0.10382	-1.0632	10	0.49607	T	0.09	-4.524	4.2934	0.10890	0.2707:0.0:0.4889:0.2403	.	234;234	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	S	234;233	ENSP00000378360:A234S;ENSP00000432539:A233S	ENSP00000378360:A234S	A	+	1	0	DAK	60866631	0.943000	0.32029	0.000000	0.03702	0.006000	0.05464	2.572000	0.45999	0.099000	0.17552	-0.251000	0.11542	GCC		0.622	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		17	93	1	0	6.49762e-13	0.006122	8.98323e-13	17	93				
ATG2A	23130	broad.mit.edu	37	11	64665575	64665575	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:64665575C>A	ENST00000377264.3	-	34	4953	c.4841G>T	c.(4840-4842)gGg>gTg	p.G1614V	ATG2A_ENST00000421419.2_Missense_Mutation_p.G1616V	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1614					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.G1614V(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGAGGTCTCCCCTGGGACCAC	0.622											OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc001obx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(4840-4842)GGG>GTG		autophagy related 2A							60.0	70.0	66.0					11																	64665575		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64665575C>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4841G>T	11.37:g.64665575C>A	ENSP00000366475:p.Gly1614Val		OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1078	ATG2A_uc001obw.2_Missense_Mutation_p.G379V	p.G1614V	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			34	4956	-			1614					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.4841G>T	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.01|12.01	1.809580|1.809580	0.31961|0.31961	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377264|ENST00000418259	T;T|.	0.06371|.	3.31;3.31|.	4.9|4.9	0.819|0.819	0.18785|0.18785	.|.	0.308416|.	0.30219|.	N|.	0.010134|.	T|T	0.28566|0.28566	0.0707|0.0707	N|N	0.08118|0.08118	0|0	0.46609|0.46609	D|D	0.999124|0.999124	B;B|.	0.12013|.	0.003;0.005|.	B;B|.	0.10450|.	0.002;0.005|.	T|T	0.03259|0.03259	-1.1055|-1.1055	10|5	0.38643|.	T|.	0.18|.	.|.	5.8612|5.8612	0.18747|0.18747	0.4114:0.2101:0.3785:0.0|0.4114:0.2101:0.3785:0.0	.|.	1614;1616|.	Q2TAZ0;Q2TAZ0-3|.	ATG2A_HUMAN;.|.	V|S	1616;1614|1417	ENSP00000410522:G1616V;ENSP00000366475:G1614V|.	ENSP00000366475:G1614V|.	G|R	-|-	2|3	0|2	ATG2A|ATG2A	64422151|64422151	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.581000|0.581000	0.36288|0.36288	1.125000|1.125000	0.31332|0.31332	0.217000|0.217000	0.20800|0.20800	0.561000|0.561000	0.74099|0.74099	GGG|AGG		0.622	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		14	156	1	0	0.000566183	0.00499	0.000612844	14	156				
SPDYC	387778	broad.mit.edu	37	11	64940262	64940262	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:64940262C>A	ENST00000377185.2	+	6	706	c.624C>A	c.(622-624)ggC>ggA	p.G208G	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C									p.G208G(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TTCCCCGGGGCCCTGGCCTCT	0.647																																							uc010rnz.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(622-624)GGC>GGA		speedy C							54.0	58.0	57.0					11																	64940262		2201	4297	6498	SO:0001819	synonymous_variant	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64940262C>A	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.624C>A	11.37:g.64940262C>A							p.G208G	NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN			6	624	+			208						Silent	SNP	ENST00000377185.2	37	c.624C>A	CCDS31606.1																																																																																				0.647	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		26	60	1	0	3.65163e-15	0.00632	5.24374e-15	26	60				
SCYL1	57410	broad.mit.edu	37	11	65303778	65303778	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:65303778G>C	ENST00000270176.5	+	12	1701	c.1624G>C	c.(1624-1626)Gag>Cag	p.E542Q	SCYL1_ENST00000420247.2_Missense_Mutation_p.E542Q|SCYL1_ENST00000525364.1_Missense_Mutation_p.E542Q|SCYL1_ENST00000533862.1_Missense_Mutation_p.E542Q|SCYL1_ENST00000279270.6_Missense_Mutation_p.E542Q|SCYL1_ENST00000524944.1_Missense_Mutation_p.E542Q|SCYL1_ENST00000527009.1_Missense_Mutation_p.E399Q	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	542					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)	p.E542Q(1)		ovary(1)|skin(1)	2						GTCTGTGTCGGAGGACCCGAC	0.587																																							uc001oea.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1624-1626)GAG>CAG		SCY1-like 1 isoform A							65.0	73.0	70.0					11																	65303778		2038	4171	6209	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65303778G>C	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1624G>C	11.37:g.65303778G>C	ENSP00000270176:p.Glu542Gln					SCYL1_uc009yqk.2_Missense_Mutation_p.E542Q|SCYL1_uc001oeb.1_Missense_Mutation_p.E542Q|SCYL1_uc001oec.1_Missense_Mutation_p.E542Q|SCYL1_uc001oed.1_Missense_Mutation_p.E399Q|SCYL1_uc001oee.1_Missense_Mutation_p.E186Q	p.E542Q	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN			12	1701	+			542			HEAT 3.		A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.1624G>C	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281829	0.80692	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009;ENST00000528545	T;T;T;T;T;T;T;T;T	0.47177	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;0.85	5.46	5.46	0.80206	Armadillo-type fold (1);	0.349544	0.29424	N	0.012188	T	0.56775	0.2008	M	0.62209	1.925	0.80722	D	1	P;P;P;P;P	0.49185	0.568;0.92;0.866;0.694;0.85	B;P;P;B;B	0.49561	0.175;0.615;0.517;0.379;0.403	T	0.60316	-0.7287	10	0.62326	D	0.03	-12.5356	16.7806	0.85562	0.0:0.0:1.0:0.0	.	542;542;542;542;542	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	Q	542;542;542;542;542;542;542;542;399;15	ENSP00000270176:E542Q;ENSP00000431635:E542Q;ENSP00000408192:E542Q;ENSP00000437254:E542Q;ENSP00000433450:E542Q;ENSP00000279270:E542Q;ENSP00000432175:E542Q;ENSP00000436993:E399Q;ENSP00000433604:E15Q	ENSP00000270176:E542Q	E	+	1	0	SCYL1	65060354	1.000000	0.71417	0.996000	0.52242	0.856000	0.48823	4.397000	0.59690	2.577000	0.86979	0.462000	0.41574	GAG		0.587	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		8	79	0	0	0	0.004482	0	8	79				
SCYL1	57410	broad.mit.edu	37	11	65304157	65304157	+	Silent	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:65304157G>C	ENST00000270176.5	+	13	1829	c.1752G>C	c.(1750-1752)ctG>ctC	p.L584L	SCYL1_ENST00000420247.2_Silent_p.L584L|SCYL1_ENST00000525364.1_Silent_p.L584L|SCYL1_ENST00000533862.1_Silent_p.L584L|SCYL1_ENST00000279270.6_Silent_p.L584L|SCYL1_ENST00000524944.1_Silent_p.L584L|SCYL1_ENST00000527009.1_Silent_p.L441L	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	584					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)	p.L584L(1)		ovary(1)|skin(1)	2						CCTCCAAGCTGATCCGTTCGC	0.617																																							uc001oea.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1750-1752)CTG>CTC		SCY1-like 1 isoform A							119.0	135.0	130.0					11																	65304157		2147	4248	6395	SO:0001819	synonymous_variant	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65304157G>C	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1752G>C	11.37:g.65304157G>C						SCYL1_uc009yqk.2_Silent_p.L584L|SCYL1_uc001oeb.1_Silent_p.L584L|SCYL1_uc001oec.1_Silent_p.L584L|SCYL1_uc001oed.1_Silent_p.L441L|SCYL1_uc001oee.1_Silent_p.L228L	p.L584L	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN			13	1829	+			584					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	ENST00000270176.5	37	c.1752G>C	CCDS41672.1																																																																																				0.617	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		11	166	0	0	0	0.000978	0	11	166				
NPAS4	266743	broad.mit.edu	37	11	66191476	66191476	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:66191476G>T	ENST00000311034.2	+	7	1291	c.1115G>T	c.(1114-1116)aGc>aTc	p.S372I		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	372					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.S372I(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GCTCCCAGAAGCACCAGCTTC	0.547																																							uc001ohx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1114-1116)AGC>ATC		neuronal PAS domain protein 4							133.0	139.0	137.0					11																	66191476		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191476G>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1115G>T	11.37:g.66191476G>T	ENSP00000311196:p.Ser372Ile					NPAS4_uc010rpc.1_Missense_Mutation_p.S162I	p.S372I	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	1291	+			372					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.1115G>T	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.567046	0.45694	.	.	ENSG00000174576	ENST00000311034	T	0.49720	0.77	4.65	3.71	0.42584	.	0.100343	0.44688	D	0.000433	T	0.44644	0.1303	N	0.24115	0.695	0.37117	D	0.900621	D	0.69078	0.997	D	0.63597	0.916	T	0.37033	-0.9723	10	0.19590	T	0.45	-3.669	7.4179	0.27055	0.1933:0.0:0.8067:0.0	.	372	Q8IUM7	NPAS4_HUMAN	I	372	ENSP00000311196:S372I	ENSP00000311196:S372I	S	+	2	0	NPAS4	65948052	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.876000	0.63079	2.420000	0.82092	0.563000	0.77884	AGC		0.547	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		58	259	1	0	7.89702e-26	0.00361	1.26001e-25	58	259				
DPP3	10072	broad.mit.edu	37	11	66276615	66276615	+	Missense_Mutation	SNP	C	C	T	rs201013550		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:66276615C>T	ENST00000360510.2	+	18	2172	c.2107C>T	c.(2107-2109)Cgt>Tgt	p.R703C	BBS1_ENST00000455748.2_5'Flank|DPP3_ENST00000530165.1_Missense_Mutation_p.R673C|BBS1_ENST00000537537.1_5'Flank|DPP3_ENST00000541961.1_Missense_Mutation_p.R703C|BBS1_ENST00000318312.7_5'Flank|DPP3_ENST00000532677.1_Missense_Mutation_p.R722C|DPP3_ENST00000453114.1_Missense_Mutation_p.R703C|DPP3_ENST00000531863.1_Missense_Mutation_p.R723C|CTD-3074O7.11_ENST00000419755.3_5'UTR|BBS1_ENST00000393994.2_5'Flank			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	703					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R703C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTTCTCTGAGCGTTTCCCAGA	0.602																																							uc001oig.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2107-2109)CGT>TGT		dipeptidyl peptidase III							69.0	63.0	65.0					11																	66276615		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66276615C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.2107C>T	11.37:g.66276615C>T	ENSP00000353701:p.Arg703Cys					DPP3_uc001oif.1_Missense_Mutation_p.R703C|DPP3_uc010rpe.1_Missense_Mutation_p.R692C|DPP3_uc001oih.1_Silent_p.S70S|BBS1_uc001oii.1_5'UTR|BBS1_uc010rpf.1_5'Flank|BBS1_uc010rpg.1_5'Flank|BBS1_uc001oij.1_5'Flank|BBS1_uc001oik.1_5'Flank|BBS1_uc001oil.1_5'Flank	p.R703C	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN			18	2169	+			703					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.2107C>T	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169714	0.78452	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807;ENST00000347422	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.73833	-0.3858	10	0.59425	D	0.04	.	14.0552	0.64764	0.0:1.0:0.0:0.0	.	722;703	G3V1D3;Q9NY33	.;DPP3_HUMAN	C	723;722;703;703;703;673;601;283	ENSP00000432782:R723C;ENSP00000435284:R722C;ENSP00000353701:R703C;ENSP00000389943:R703C;ENSP00000440502:R703C;ENSP00000436941:R673C	ENSP00000309957:R283C	R	+	1	0	DPP3	66033191	1.000000	0.71417	0.995000	0.50966	0.650000	0.38633	4.810000	0.62598	2.387000	0.81309	0.555000	0.69702	CGT		0.602	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			10	80	0	0	0	0.000978	0	10	80				
RAD9A	5883	broad.mit.edu	37	11	67161065	67161065	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:67161065G>T	ENST00000307980.2	+	4	426	c.333G>T	c.(331-333)caG>caT	p.Q111H	RNU6-1238P_ENST00000517215.1_RNA	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	111					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)	p.Q111H(1)		lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TGGTGGTCCAGCTGCATTGCA	0.627								Other conserved DNA damage response genes																															uc001okr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(331-333)CAG>CAT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	RAD9 homolog							65.0	63.0	63.0					11																	67161065		2200	4295	6495	SO:0001583	missense	5883				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding	g.chr11:67161065G>T	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"""RAD9 (S. pombe) homolog"""	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.333G>T	11.37:g.67161065G>T	ENSP00000311360:p.Gln111His					RAD9A_uc001oks.2_5'Flank	p.Q111H	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		4	426	+			111					B2RCZ8|Q6FI29|Q96C41	Missense_Mutation	SNP	ENST00000307980.2	37	c.333G>T	CCDS8159.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163556	0.57476	.	.	ENSG00000172613	ENST00000307980;ENST00000544620	T;T	0.25414	1.8;1.8	3.95	3.95	0.45737	.	0.141464	0.47852	D	0.000220	T	0.50240	0.1604	M	0.80982	2.52	0.43114	D	0.99482	D	0.89917	1.0	D	0.74023	0.982	T	0.53933	-0.8368	10	0.40728	T	0.16	-15.2992	13.2814	0.60216	0.0:0.0:1.0:0.0	.	111	Q99638	RAD9A_HUMAN	H	111;97	ENSP00000311360:Q111H;ENSP00000444979:Q97H	ENSP00000311360:Q111H	Q	+	3	2	RAD9A	66917641	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.359000	0.52292	1.914000	0.55421	0.455000	0.32223	CAG		0.627	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395481.2	NM_004584		16	30	1	0	1.2644e-06	0.010504	1.48989e-06	16	30				
PDE2A	5138	broad.mit.edu	37	11	72291955	72291955	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:72291955G>C	ENST00000334456.5	-	24	2353	c.2108C>G	c.(2107-2109)aCa>aGa	p.T703R	PDE2A_ENST00000444035.2_Missense_Mutation_p.T694R|PDE2A_ENST00000544570.1_Missense_Mutation_p.T696R|PDE2A_ENST00000540345.1_Missense_Mutation_p.T694R|PDE2A_ENST00000418754.2_Missense_Mutation_p.T588R|PDE2A_ENST00000376450.3_Missense_Mutation_p.T447R	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	703	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.T703R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	AGAGTTGTTTGTGCCTCTGTG	0.532																																							uc010rrc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(2107-2109)ACA>AGA		phosphodiesterase 2A isoform 1	Sildenafil(DB00203)|Sulindac(DB00605)						135.0	110.0	118.0					11																	72291955		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72291955G>C	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2108C>G	11.37:g.72291955G>C	ENSP00000334910:p.Thr703Arg					PDE2A_uc001oso.2_Missense_Mutation_p.T682R|PDE2A_uc010rra.1_Missense_Mutation_p.T696R|PDE2A_uc001osn.2_Missense_Mutation_p.T447R|PDE2A_uc010rrb.1_Missense_Mutation_p.T694R|PDE2A_uc010rrd.1_Missense_Mutation_p.T588R	p.T703R	NM_002599	NP_002590	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		24	2351	-			703			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.2108C>G	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195786	0.78902	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000420501;ENST00000441209;ENST00000542223	D;D;D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.36	5.36	0.76844	Metal-dependent phosphohydrolase, HD domain (1);-cyclic nucleotide phosphodiesterase, conserved site (1);5&apos (3);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (3);	0.000000	0.85682	D	0.000000	D	0.88980	0.6585	L	0.48260	1.515	0.58432	D	0.999996	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0;0.999	D	0.88819	0.3297	10	0.54805	T	0.06	.	12.1334	0.53957	0.0828:0.0:0.9172:0.0	.	588;703;694;696;703;447	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	R	703;447;694;772;696;588;694;82;244;134	ENSP00000334910:T703R;ENSP00000365633:T447R;ENSP00000411657:T694R;ENSP00000442256:T696R;ENSP00000410310:T588R;ENSP00000446399:T694R;ENSP00000388997:T82R;ENSP00000392457:T244R;ENSP00000440834:T134R	ENSP00000334910:T703R	T	-	2	0	PDE2A	71969603	1.000000	0.71417	0.990000	0.47175	0.969000	0.65631	7.167000	0.77562	2.523000	0.85059	0.655000	0.94253	ACA		0.532	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		11	56	0	0	0	0.008291	0	11	56				
PDE2A	5138	broad.mit.edu	37	11	72295737	72295737	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:72295737G>A	ENST00000334456.5	-	18	1640	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	PDE2A_ENST00000444035.2_Silent_p.I456I|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000544570.1_Silent_p.I458I|PDE2A_ENST00000540345.1_Silent_p.I456I|PDE2A_ENST00000418754.2_Silent_p.I350I|PDE2A_ENST00000376450.3_Silent_p.I209I	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	465	GAF 2.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.I465I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CGTGTCCCGCGATGCCCTGAT	0.617																																							uc010rrc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(1393-1395)ATC>ATT		phosphodiesterase 2A isoform 1	Sildenafil(DB00203)|Sulindac(DB00605)						50.0	51.0	51.0					11																	72295737		2199	4292	6491	SO:0001819	synonymous_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72295737G>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1395C>T	11.37:g.72295737G>A						PDE2A_uc001oso.2_Silent_p.I444I|PDE2A_uc010rra.1_Silent_p.I458I|PDE2A_uc001osn.2_Silent_p.I209I|PDE2A_uc010rrb.1_Silent_p.I456I|PDE2A_uc010rrd.1_Silent_p.I350I	p.I465I	NM_002599	NP_002590	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		18	1638	-			465			GAF 2.		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	c.1395C>T	CCDS8216.1																																																																																				0.617	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		4	61	0	0	0	0.009096	0	4	61				
SLCO2B1	11309	broad.mit.edu	37	11	74913994	74913994	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:74913994G>T	ENST00000289575.5	+	12	2207	c.1812G>T	c.(1810-1812)atG>atT	p.M604I	SLCO2B1_ENST00000341411.4_Missense_Mutation_p.M377I|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.M582I|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.M349I|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.M460I|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.M377I|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.M488I	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	604					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.M604I(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	TCCAGTTCATGTTCCTGAGGA	0.542																																							uc001owb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1810-1812)ATG>ATT		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						255.0	240.0	245.0					11																	74913994		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74913994G>T	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1812G>T	11.37:g.74913994G>T	ENSP00000289575:p.Met604Ile					SLCO2B1_uc010rrq.1_Missense_Mutation_p.M349I|SLCO2B1_uc010rrr.1_Missense_Mutation_p.M460I|SLCO2B1_uc010rrs.1_Missense_Mutation_p.M488I|SLCO2B1_uc001owc.2_Missense_Mutation_p.M377I|SLCO2B1_uc001owd.2_Missense_Mutation_p.M582I	p.M604I	NM_007256	NP_009187	O94956	SO2B1_HUMAN			12	2199	+			604			Helical; Name=11; (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.1812G>T	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213112	0.58452	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T;T	0.58652	0.32;1.21;1.21;1.21;1.21;1.21;0.32	4.63	3.64	0.41730	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.62146	0.2404	L	0.37897	1.145	0.46044	D	0.998838	D;D;D;D	0.89917	0.999;0.999;0.998;1.0	D;D;D;D	0.91635	0.989;0.989;0.974;0.999	T	0.54536	-0.8279	10	0.15066	T	0.55	.	12.184	0.54227	0.0:0.1736:0.8264:0.0	.	460;349;377;604	E9PPU8;E9PPJ4;O94956-2;O94956	.;.;.;SO2B1_HUMAN	I	604;377;488;349;460;377;582	ENSP00000289575:M604I;ENSP00000341286:M377I;ENSP00000434112:M488I;ENSP00000432650:M349I;ENSP00000436324:M460I;ENSP00000389653:M377I;ENSP00000388912:M582I	ENSP00000289575:M604I	M	+	3	0	SLCO2B1	74591642	1.000000	0.71417	0.999000	0.59377	0.566000	0.35808	4.150000	0.58098	2.276000	0.75962	0.561000	0.74099	ATG		0.542	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		31	220	1	0	1.49673e-21	0.00623	2.32945e-21	31	220				
FOLH1B	219595	broad.mit.edu	37	11	89424270	89424270	+	RNA	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:89424270C>T	ENST00000532352.1	+	0	1733							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.S307F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TACAATATTTCTATGAAACAT	0.353																																							uc001pda.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(919-921)TCT>TTT		folate hydrolase 1B							138.0	121.0	127.0					11																	89424270		2201	4299	6500			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424270C>T	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.89424270C>T							p.S307F	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			11	1446	+			307						Missense_Mutation	SNP	ENST00000532352.1	37	c.920C>T																																																																																					0.353	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		14	86	0	0	0	0.001855	0	14	86				
NAALAD2	10003	broad.mit.edu	37	11	89896172	89896172	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:89896172G>T	ENST00000534061.1	+	9	1275	c.1045G>T	c.(1045-1047)Gtt>Ttt	p.V349F	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.V316F	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	349	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.V349F(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTACAATGTAGTTGGAACTAT	0.269																																							uc001pdf.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1045-1047)GTT>TTT		N-acetylated alpha-linked acidic dipeptidase 2							72.0	85.0	80.0					11																	89896172		2199	4280	6479	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89896172G>T	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1045G>T	11.37:g.89896172G>T	ENSP00000432481:p.Val349Phe					NAALAD2_uc009yvx.2_Missense_Mutation_p.V316F|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Intron	p.V349F	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			9	1154	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	349			Extracellular (Potential).|NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.1045G>T	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072300	0.55646	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.46063	0.88;0.88	5.37	4.24	0.50183	.	0.069750	0.64402	D	0.000016	T	0.27205	0.0667	N	0.12422	0.21	0.80722	D	1	P	0.36162	0.54	B	0.40009	0.316	T	0.05007	-1.0912	9	.	.	.	-14.3552	11.3564	0.49617	0.9275:0.0:0.0725:0.0	.	349	Q9Y3Q0	NALD2_HUMAN	F	349;316	ENSP00000432481:V349F;ENSP00000320083:V316F	.	V	+	1	0	NAALAD2	89535820	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.375000	0.73137	0.962000	0.38057	-0.383000	0.06682	GTT		0.269	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		7	74	1	0	0.000274275	0.004482	0.000298378	7	74				
FAT3	120114	broad.mit.edu	37	11	92616178	92616178	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:92616178C>T	ENST00000298047.6	+	23	12573	c.12556C>T	c.(12556-12558)Cgc>Tgc	p.R4186C	FAT3_ENST00000409404.2_Missense_Mutation_p.R4186C|FAT3_ENST00000533797.1_Missense_Mutation_p.R521C|FAT3_ENST00000525166.1_Missense_Mutation_p.R4036C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4186					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R4186C(2)|p.R761C(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAACTACTCCCGCAACAACAT	0.602										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	3	Substitution - Missense(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(12556-12558)CGC>TGC		FAT tumor suppressor homolog 3							60.0	75.0	70.0					11																	92616178		2069	4194	6263	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616178C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12556C>T	11.37:g.92616178C>T	ENSP00000298047:p.Arg4186Cys	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.R626C	p.R4186C	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			23	12573	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4186			Cytoplasmic (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12556C>T		.	.	.	.	.	.	.	.	.	.	C	18.47	3.630073	0.67015	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.86627	-0.99;-1.03;-1.0;-2.15	5.85	4.86	0.63082	.	.	.	.	.	D	0.92851	0.7726	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.943	D	0.93243	0.6628	9	0.72032	D	0.01	.	17.6919	0.88270	0.1311:0.8689:0.0:0.0	.	4186;4186	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	C	4186;4186;4036;521	ENSP00000298047:R4186C;ENSP00000387040:R4186C;ENSP00000432586:R4036C;ENSP00000436399:R521C	ENSP00000298047:R4186C	R	+	1	0	FAT3	92255826	0.960000	0.32886	0.994000	0.49952	0.948000	0.59901	2.214000	0.42853	2.770000	0.95276	0.655000	0.94253	CGC		0.602	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		5	51	0	0	0	0.000602	0	5	51				
MTNR1B	4544	broad.mit.edu	37	11	92714849	92714849	+	Missense_Mutation	SNP	C	C	T	rs148152472		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:92714849C>T	ENST00000257068.2	+	2	466	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	154					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.R154C(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	AATCTACCGGCGCTGGCACAC	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19856	0.0		0.0	False		,,,				2504	0.0						uc001pdk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(460-462)CGC>TGC		melatonin receptor 1B	Ramelteon(DB00980)	C	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	123.0	115.0	118.0		460	-0.6	0.0	11	dbSNP_134	118	0,8596		0,0,4298	no	missense	MTNR1B	NM_005959.3	180	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign	154/363	92714849	1,12997	2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92714849C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.460C>T	11.37:g.92714849C>T	ENSP00000257068:p.Arg154Cys						p.R154C	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	563	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	154			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000257068.2	37	c.460C>T	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	1.807	-0.475713	0.04414	2.27E-4	0.0	ENSG00000134640	ENST00000257068	T	0.73047	-0.71	3.97	-0.557	0.11800	GPCR, rhodopsin-like superfamily (1);	1.476030	0.03653	N	0.241366	T	0.64472	0.2601	M	0.64080	1.96	0.09310	N	1	B	0.14438	0.01	B	0.21546	0.035	T	0.39396	-0.9616	10	0.37606	T	0.19	-3.4645	1.4633	0.02400	0.1454:0.397:0.1434:0.3142	.	154	P49286	MTR1B_HUMAN	C	154	ENSP00000257068:R154C	ENSP00000257068:R154C	R	+	1	0	MTNR1B	92354497	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.066000	0.11598	0.093000	0.17368	0.491000	0.48974	CGC		0.592	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			16	50	0	0	0	0.010504	0	16	50				
CNTN5	53942	broad.mit.edu	37	11	99715985	99715985	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:99715985C>T	ENST00000524871.1	+	6	858	c.568C>T	c.(568-570)Cag>Tag	p.Q190*	CNTN5_ENST00000279463.3_Nonsense_Mutation_p.Q190*|CNTN5_ENST00000527185.1_Nonsense_Mutation_p.Q190*|CNTN5_ENST00000418526.2_Nonsense_Mutation_p.Q116*|CNTN5_ENST00000528682.1_Nonsense_Mutation_p.Q190*	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	190	Ig-like C2-type 1.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.Q190*(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGCTACACTGCAGTTTGCCTG	0.328																																							uc001pga.2		NA																	2	Substitution - Nonsense(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(568-570)CAG>TAG		contactin 5 isoform long							120.0	113.0	115.0					11																	99715985		1815	4082	5897	SO:0001587	stop_gained	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99715985C>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.568C>T	11.37:g.99715985C>T	ENSP00000435637:p.Gln190*					CNTN5_uc009ywv.1_Nonsense_Mutation_p.Q190*|CNTN5_uc001pfz.2_Nonsense_Mutation_p.Q190*|CNTN5_uc001pgb.2_Nonsense_Mutation_p.Q116*	p.Q190*	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	6	907	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	190			Ig-like C2-type 1.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Nonsense_Mutation	SNP	ENST00000524871.1	37	c.568C>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	36	5.742637	0.96873	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	.	.	.	5.8	5.8	0.92144	.	0.175045	0.51477	D	0.000084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.0307	0.92955	0.0:1.0:0.0:0.0	.	.	.	.	X	190;190;190;116;190	.	ENSP00000279463:Q190X	Q	+	1	0	CNTN5	99221195	1.000000	0.71417	0.999000	0.59377	0.727000	0.41649	7.426000	0.80270	2.745000	0.94114	0.650000	0.86243	CAG		0.328	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		17	153	0	0	0	0.008871	0	17	153				
CNTN5	53942	broad.mit.edu	37	11	100141943	100141943	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:100141943C>G	ENST00000524871.1	+	18	2574	c.2284C>G	c.(2284-2286)Cca>Gca	p.P762A	CNTN5_ENST00000279463.3_Missense_Mutation_p.P762A|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.P762A|CNTN5_ENST00000418526.2_Missense_Mutation_p.P688A|CNTN5_ENST00000528682.1_Missense_Mutation_p.P762A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	762	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.P762A(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCCAAGCACCCCATCTCGAAT	0.458																																							uc001pga.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(2284-2286)CCA>GCA		contactin 5 isoform long							96.0	93.0	94.0					11																	100141943		1934	4138	6072	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100141943C>G	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2284C>G	11.37:g.100141943C>G	ENSP00000435637:p.Pro762Ala					CNTN5_uc001pfz.2_Missense_Mutation_p.P762A|CNTN5_uc001pgb.2_Missense_Mutation_p.P688A|CNTN5_uc010ruk.1_Missense_Mutation_p.P33A	p.P762A	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	18	2623	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	762			Fibronectin type-III 1.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.2284C>G	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421306	0.83559	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.51	5.51	0.81932	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68072	0.2961	L	0.46947	1.48	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.68368	-0.5427	10	0.56958	D	0.05	.	18.4153	0.90567	0.0:1.0:0.0:0.0	.	688;762	O94779-2;O94779	.;CNTN5_HUMAN	A	762;762;762;688;762	ENSP00000433575:P762A;ENSP00000436185:P762A;ENSP00000435637:P762A;ENSP00000393229:P688A;ENSP00000279463:P762A	ENSP00000279463:P762A	P	+	1	0	CNTN5	99647153	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.382000	0.79729	2.590000	0.87494	0.467000	0.42956	CCA		0.458	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		10	26	0	0	0	0.008291	0	10	26				
C11orf87	399947	broad.mit.edu	37	11	109294562	109294562	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:109294562T>C	ENST00000327419.6	+	2	606	c.203T>C	c.(202-204)gTt>gCt	p.V68A	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	68						integral component of membrane (GO:0016021)		p.V68A(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						ATTGTCCTGGTTACCCTCATC	0.592																																							uc001pkn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(202-204)GTT>GCT		hypothetical protein LOC399947 precursor							186.0	150.0	162.0					11																	109294562		2201	4298	6499	SO:0001583	missense	399947					integral to membrane		g.chr11:109294562T>C	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.203T>C	11.37:g.109294562T>C	ENSP00000331581:p.Val68Ala					C11orf87_uc010rwb.1_5'Flank	p.V68A	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN			2	577	+			68			Helical; (Potential).		B4E169	Missense_Mutation	SNP	ENST00000327419.6	37	c.203T>C	CCDS31672.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.263357	0.59431	.	.	ENSG00000185742	ENST00000327419	.	.	.	5.13	5.13	0.70059	.	0.000000	0.47455	U	0.000231	T	0.32436	0.0829	N	0.17082	0.46	0.38129	D	0.938092	B	0.32573	0.376	B	0.27887	0.084	T	0.35992	-0.9766	9	0.54805	T	0.06	.	7.9011	0.29736	0.0:0.0932:0.0:0.9068	.	68	Q6NUJ2	CK087_HUMAN	A	68	.	ENSP00000331581:V68A	V	+	2	0	C11orf87	108799772	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.370000	0.66144	2.066000	0.61787	0.533000	0.62120	GTT		0.592	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		8	58	0	0	0	0.004482	0	8	58				
LAYN	143903	broad.mit.edu	37	11	111420459	111420460	+	Missense_Mutation	DNP	GG	GG	AT	rs143228822		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:111420459_111420460GG>AT	ENST00000375615.3	+	4	709_710	c.524_525GG>AT	c.(523-525)cGG>cAT	p.R175H	LAYN_ENST00000525126.1_Missense_Mutation_p.R175H|LAYN_ENST00000375614.2_Missense_Mutation_p.R167H|LAYN_ENST00000528924.1_Intron|LAYN_ENST00000436913.2_Intron|LAYN_ENST00000533265.1_Missense_Mutation_p.R167H	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	175	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.R167H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	AATGATGACCGGTGCAACATGA	0.505																																					Ovarian(17;551 586 12136 22082 22900)	Ovarian(17;551 586 12136 22082 22900)	uc001plr.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(523-525)CGG>CAT		layilin																																				SO:0001583	missense	143903					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding	g.chr11:111420459_111420460GG>AT		CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	Exception_encountered	11.37:g.111420459_111420460delinsAT	ENSP00000364765:p.Arg175His					LAYN_uc001plp.1_Missense_Mutation_p.R167H|LAYN_uc001plq.1_Missense_Mutation_p.R175H|LAYN_uc001pls.1_Missense_Mutation_p.R167H|LAYN_uc010rwg.1_Intron|LAYN_uc010rwh.1_Missense_Mutation_p.R23H	p.R175H	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	4	860_861	+		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)	175			C-type lectin.|Extracellular (Potential).		A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Missense_Mutation	DNP	ENST00000375615.3	37	c.524_525GG>AT	CCDS58178.1																																																																																				0.505	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391187.1	NM_178834		11	55	0	0	0	0.004672	0	11	55				
ALG9	79796	broad.mit.edu	37	11	111680426	111680426	+	Silent	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:111680426A>G	ENST00000531154.1	-	14	1633	c.1161T>C	c.(1159-1161)taT>taC	p.Y387Y	ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000398006.2_Silent_p.Y380Y|ALG9_ENST00000524880.1_3'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	551					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)	p.Y784Y(1)|p.Y387Y(1)|p.Y783Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		TATTGGATGAATATTTTGGCT	0.398																																							uc001pmb.2		NA																	3	Substitution - coding silent(3)		lung(3)	large_intestine(1)|ovary(1)	2						c.(1651-1653)TAT>TAC		asparagine-linked glycosylation 9 protein							162.0	150.0	154.0					11																	111680426		1823	4071	5894	SO:0001819	synonymous_variant	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111680426A>G		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.1161T>C	11.37:g.111680426A>G						ALG9_uc001ply.2_Silent_p.Y380Y|ALG9_uc001plz.2_Silent_p.Y387Y|ALG9_uc010rwm.1_Silent_p.Y558Y|ALG9_uc010rwn.1_Silent_p.Y505Y|ALG9_uc010rwo.1_Silent_p.Y379Y	p.Y551Y	NM_001077690	NP_001071158	Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	15	1752	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	551			Lumenal (Potential).		Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Silent	SNP	ENST00000531154.1	37	c.1653T>C	CCDS41714.1	.	.	.	.	.	.	.	.	.	.	A	7.260	0.604933	0.14002	.	.	ENSG00000086848	ENST00000532425	.	.	.	5.96	-1.22	0.09494	.	.	.	.	.	T	0.63850	0.2546	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61028	-0.7145	4	.	.	.	-14.034	13.0024	0.58683	0.3356:0.0:0.6644:0.0	.	.	.	.	T	136	.	.	I	-	2	0	ALG9	111185636	1.000000	0.71417	0.917000	0.36280	0.724000	0.41520	0.504000	0.22626	-0.204000	0.10235	0.533000	0.62120	ATT		0.398	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	NM_024740		13	56	0	0	0	0.00245	0	13	56				
DRD2	1813	broad.mit.edu	37	11	113295192	113295192	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:113295192C>T	ENST00000362072.3	-	2	526	c.182G>A	c.(181-183)cGc>cAc	p.R61H	DRD2_ENST00000538967.1_Missense_Mutation_p.R61H|DRD2_ENST00000544518.1_Missense_Mutation_p.R61H|DRD2_ENST00000355319.2_Missense_Mutation_p.R61H|DRD2_ENST00000542968.1_Missense_Mutation_p.R61H|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000346454.3_Missense_Mutation_p.R61H	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	61					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.R61H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGCCTTCTCGCGGGACACAGC	0.607																																							uc001pnz.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(181-183)CGC>CAC		dopamine receptor D2 isoform long	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						208.0	158.0	175.0					11																	113295192		2201	4296	6497	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113295192C>T	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.182G>A	11.37:g.113295192C>T	ENSP00000354859:p.Arg61His					DRD2_uc010rwv.1_Missense_Mutation_p.R61H|DRD2_uc001poa.3_Missense_Mutation_p.R61H|DRD2_uc001pob.3_Missense_Mutation_p.R61H|DRD2_uc009yyr.1_Missense_Mutation_p.R61H	p.R61H	NM_000795	NP_000786	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	1	503	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	61			Cytoplasmic (By similarity).		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.182G>A	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	C	33	5.213879	0.95104	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967;ENST00000543292	T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63757	0.2538	L	0.59967	1.855	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.989;0.998;0.997;0.998	T	0.64976	-0.6280	10	0.72032	D	0.01	.	19.43	0.94760	0.0:1.0:0.0:0.0	.	61;61;61;61	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	H	61	ENSP00000347474:R61H;ENSP00000278597:R61H;ENSP00000354859:R61H;ENSP00000441068:R61H;ENSP00000442172:R61H;ENSP00000438215:R61H;ENSP00000438419:R61H	ENSP00000278597:R61H	R	-	2	0	DRD2	112800402	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	5.942000	0.70203	2.586000	0.87340	0.561000	0.74099	CGC		0.607	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		7	41	0	0	0	0.006214	0	7	41				
DSCAML1	57453	broad.mit.edu	37	11	117299216	117299216	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:117299216G>T	ENST00000321322.6	-	33	6171	c.6170C>A	c.(6169-6171)aCc>aAc	p.T2057N	DSCAML1_ENST00000527706.1_Missense_Mutation_p.T1787N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1997					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.T2057N(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCTGGGGGCGGTGGGTGGCTC	0.736																																							uc001prh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(6169-6171)ACC>AAC		Down syndrome cell adhesion molecule like 1							4.0	4.0	4.0					11																	117299216		1461	3294	4755	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117299216G>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.6170C>A	11.37:g.117299216G>T	ENSP00000315465:p.Thr2057Asn						p.T2057N	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	33	6172	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1997			Cytoplasmic (Potential).|Pro-rich.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.6170C>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	2.663	-0.279236	0.05642	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.60299	0.22;0.2	4.79	4.79	0.61399	.	.	.	.	.	T	0.37785	0.1016	N	0.08118	0	0.09310	N	1	B	0.24823	0.112	B	0.25140	0.058	T	0.24941	-1.0146	9	0.54805	T	0.06	.	9.6666	0.39988	0.1377:0.0:0.8623:0.0	.	1997	Q8TD84	DSCL1_HUMAN	N	1787;2057;1764	ENSP00000434335:T1787N;ENSP00000315465:T2057N	ENSP00000315465:T2057N	T	-	2	0	DSCAML1	116804426	0.593000	0.26840	0.013000	0.15412	0.109000	0.19521	3.961000	0.56759	2.210000	0.71456	0.305000	0.20034	ACC		0.736	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		12	5	1	0	2.27111e-07	0.001368	2.75139e-07	12	5				
C2CD2L	9854	broad.mit.edu	37	11	118983090	118983090	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:118983090A>T	ENST00000528586.1	+	4	386	c.316A>T	c.(316-318)Agc>Tgc	p.S106C	C2CD2L_ENST00000336702.3_Missense_Mutation_p.S358C			O14523	C2C2L_HUMAN	C2CD2-like	358						integral component of membrane (GO:0016021)		p.S358C(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GAGGAGCAGCAGCTGTGGAGA	0.622																																							uc001pvo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1072-1074)AGC>TGC		transmembrane protein 24							48.0	53.0	51.0					11																	118983090		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118983090A>T	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.316A>T	11.37:g.118983090A>T	ENSP00000433600:p.Ser106Cys					C2CD2L_uc001pvn.2_Missense_Mutation_p.S358C	p.S358C	NM_014807	NP_055622	O14523	C2C2L_HUMAN			8	1431	+			358					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	37	c.1072A>T		.	.	.	.	.	.	.	.	.	.	A	17.36	3.370684	0.61624	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.44482	0.92;0.92	5.23	1.61	0.23674	C2 calcium/lipid-binding domain, CaLB (1);	0.440664	0.28877	N	0.013860	T	0.39410	0.1077	L	0.27053	0.805	0.25312	N	0.989193	D;D	0.69078	0.997;0.997	P;P	0.60236	0.794;0.871	T	0.17289	-1.0374	10	0.59425	D	0.04	-0.9303	4.3746	0.11263	0.4798:0.1761:0.3441:0.0	.	358;358	O14523;O14523-2	C2C2L_HUMAN;.	C	358;106	ENSP00000338885:S358C;ENSP00000433600:S106C	ENSP00000338885:S358C	S	+	1	0	C2CD2L	118488300	0.084000	0.21492	0.239000	0.24122	0.970000	0.65996	0.517000	0.22832	0.113000	0.18004	0.482000	0.46254	AGC		0.622	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		5	69	0	0	0	0.001168	0	5	69				
TRIM29	23650	broad.mit.edu	37	11	119998088	119998088	+	Silent	SNP	G	G	T	rs570461440		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:119998088G>T	ENST00000341846.5	-	3	1511	c.1090C>A	c.(1090-1092)Cgg>Agg	p.R364R	TRIM29_ENST00000529044.1_Silent_p.R103R|TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000541857.1_Silent_p.R97R	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	364					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R364R(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AGCTGCTCCCGGGTCTGCTTG	0.542																																							uc001pwz.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(1090-1092)CGG>AGG		tripartite motif protein TRIM29							136.0	118.0	124.0					11																	119998088		2199	4295	6494	SO:0001819	synonymous_variant	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:119998088G>T	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1090C>A	11.37:g.119998088G>T						TRIM29_uc010rzi.1_Silent_p.R103R|TRIM29_uc010rzj.1_Silent_p.R97R|TRIM29_uc001pxa.2_RNA	p.R364R	NM_012101	NP_036233	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	3	1214	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	364					Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	c.1090C>A	CCDS8428.1																																																																																				0.542	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		29	102	1	0	1.13719e-10	0.008361	1.48816e-10	29	102				
TMEM136	219902	broad.mit.edu	37	11	120201131	120201131	+	Silent	SNP	A	A	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:120201131A>C	ENST00000375095.2	+	3	886	c.645A>C	c.(643-645)gcA>gcC	p.A215A	TMEM136_ENST00000314475.2_Silent_p.A237A|TMEM136_ENST00000531346.1_3'UTR|TMEM136_ENST00000529187.1_Silent_p.A118A	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	215						integral component of membrane (GO:0016021)		p.A237A(1)|p.A118A(1)		endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		GGCGCTTTGCATGGAGGAAGA	0.512																																							uc001pxh.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(643-645)GCA>GCC		transmembrane protein 136							183.0	147.0	159.0					11																	120201131		2203	4299	6502	SO:0001819	synonymous_variant	219902					integral to membrane		g.chr11:120201131A>C	BC015232	CCDS8432.1, CCDS55792.1, CCDS55793.1	11q23.3	2006-11-24				ENSG00000181264			28280	protein-coding gene	gene with protein product						12477932	Standard	NM_174926		Approved	MGC17839	uc001pxj.3	Q6ZRR5		ENST00000375095.2:c.645A>C	11.37:g.120201131A>C						TMEM136_uc001pxg.2_Silent_p.A118A|TMEM136_uc010rzm.1_Silent_p.A96A|TMEM136_uc001pxj.2_Silent_p.A237A|TMEM136_uc009zas.1_Silent_p.A101A|TMEM136_uc001pxi.1_Silent_p.A101A	p.A215A	NM_174926	NP_777586	Q6ZRR5	TM136_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)	3	708	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)	215					B4DGQ4|B4E230|Q8IZ79	Silent	SNP	ENST00000375095.2	37	c.645A>C	CCDS55793.1																																																																																				0.512	TMEM136-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388045.1	NM_174926		6	25	0	0	0	0.001168	0	6	25				
SORL1	6653	broad.mit.edu	37	11	121477578	121477578	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:121477578A>T	ENST00000260197.7	+	36	5102	c.4973A>T	c.(4972-4974)cAg>cTg	p.Q1658L	SORL1_ENST00000534286.1_Missense_Mutation_p.Q568L|SORL1_ENST00000532694.1_Missense_Mutation_p.Q504L|SORL1_ENST00000527934.1_Missense_Mutation_p.Q273L|SORL1_ENST00000525532.1_Missense_Mutation_p.Q602L	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1658	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.Q1658L(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CGAAATCTCCAGCTGTCACTC	0.512																																							uc001pxx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(4972-4974)CAG>CTG		sortilin-related receptor containing LDLR class							143.0	126.0	132.0					11																	121477578		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121477578A>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4973A>T	11.37:g.121477578A>T	ENSP00000260197:p.Gln1658Leu					SORL1_uc010rzp.1_Missense_Mutation_p.Q504L|SORL1_uc010rzq.1_Missense_Mutation_p.Q273L	p.Q1658L	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	36	5053	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1658			Extracellular (Potential).|Fibronectin type-III 2.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.4973A>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.142077	0.77775	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33	5.77	5.77	0.91146	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.063948	0.64402	N	0.000006	T	0.69495	0.3117	L	0.42744	1.35	0.58432	D	0.999999	D;D	0.89917	1.0;0.99	D;D	0.87578	0.998;0.921	T	0.69296	-0.5182	10	0.45353	T	0.12	.	15.7639	0.78110	1.0:0.0:0.0:0.0	.	273;1658	E9PKB0;Q92673	.;SORL_HUMAN	L	1658;602;504;568;273	ENSP00000260197:Q1658L;ENSP00000434634:Q602L;ENSP00000432131:Q504L;ENSP00000436447:Q568L;ENSP00000435405:Q273L	ENSP00000260197:Q1658L	Q	+	2	0	SORL1	120982788	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.632000	0.90995	2.200000	0.70718	0.459000	0.35465	CAG		0.512	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		19	158	0	0	0	0.007413	0	19	158				
OR6T1	219874	broad.mit.edu	37	11	123813850	123813850	+	Silent	SNP	A	A	T	rs76651236	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:123813850A>T	ENST00000321252.2	-	1	730	c.696T>A	c.(694-696)gcT>gcA	p.A232A		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A232A(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCCTTCGCTCAGCAGCTGTAG	0.512																																							uc010sab.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(694-696)GCT>GCA		olfactory receptor, family 6, subfamily T,							105.0	96.0	99.0					11																	123813850		2202	4299	6501	SO:0001819	synonymous_variant	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813850A>T	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.696T>A	11.37:g.123813850A>T							p.A232A	NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	696	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	232			Cytoplasmic (Potential).		Q6IFE7	Silent	SNP	ENST00000321252.2	37	c.696T>A	CCDS31700.1																																																																																				0.512	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		18	92	0	0	0	0.008871	0	18	92				
OR10G9	219870	broad.mit.edu	37	11	123894150	123894150	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:123894150C>A	ENST00000375024.1	+	1	431	c.431C>A	c.(430-432)gCc>gAc	p.A144D		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A144D(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCCCTCCTGGCCACCAGCACT	0.527																																							uc010sad.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(430-432)GCC>GAC		olfactory receptor, family 10, subfamily G,							111.0	96.0	101.0					11																	123894150		2201	4299	6500	SO:0001583	missense	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894150C>A	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.431C>A	11.37:g.123894150C>A	ENSP00000364164:p.Ala144Asp						p.A144D	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	431	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	144			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000375024.1	37	c.431C>A	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	C	8.611	0.889209	0.17540	.	.	ENSG00000236981	ENST00000375024	T	0.38560	1.13	3.48	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.151248	0.30771	N	0.008913	T	0.66771	0.2823	H	0.95151	3.63	0.21782	N	0.999541	D	0.56287	0.975	D	0.64877	0.93	T	0.59434	-0.7455	10	0.87932	D	0	.	4.7467	0.13040	0.0:0.6135:0.1895:0.197	.	144	Q8NGN4	O10G9_HUMAN	D	144	ENSP00000364164:A144D	ENSP00000364164:A144D	A	+	2	0	OR10G9	123399360	0.000000	0.05858	0.307000	0.25127	0.099000	0.18886	-0.052000	0.11865	0.768000	0.33290	0.655000	0.94253	GCC		0.527	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		37	192	1	0	5.04308e-16	0.00623	7.30026e-16	37	192				
ROBO4	54538	broad.mit.edu	37	11	124765005	124765005	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:124765005T>C	ENST00000306534.3	-	7	1606	c.1121A>G	c.(1120-1122)aAc>aGc	p.N374S	ROBO4_ENST00000533054.1_Missense_Mutation_p.N229S|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	374	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.N374S(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCCATTGTGGTTTTCAGCAGG	0.557																																							uc001qbg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1120-1122)AAC>AGC		roundabout homolog 4, magic roundabout							170.0	132.0	145.0					11																	124765005		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124765005T>C	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1121A>G	11.37:g.124765005T>C	ENSP00000304945:p.Asn374Ser					ROBO4_uc010sas.1_Missense_Mutation_p.N229S|ROBO4_uc001qbh.2_Missense_Mutation_p.N264S|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'UTR	p.N374S	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	7	1261	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	374			Fibronectin type-III 2.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.1121A>G	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	T	8.600	0.886589	0.17540	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.55234	0.53;0.53	5.35	3.0	0.34707	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.186223	0.26627	N	0.023336	T	0.19127	0.0459	N	0.02247	-0.625	0.24627	N	0.993649	B;B	0.30326	0.018;0.276	B;B	0.29267	0.019;0.1	T	0.31138	-0.9954	10	0.06099	T	0.92	.	5.6269	0.17487	0.0:0.1005:0.2651:0.6344	.	264;374	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	S	374;264;229	ENSP00000304945:N374S;ENSP00000437129:N229S	ENSP00000304945:N374S	N	-	2	0	ROBO4	124270215	0.996000	0.38824	1.000000	0.80357	0.990000	0.78478	1.531000	0.36018	0.829000	0.34733	0.460000	0.39030	AAC		0.557	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		5	60	0	0	0	0.001984	0	5	60				
NTM	50863	broad.mit.edu	37	11	132180009	132180009	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:132180009C>T	ENST00000374786.1	+	5	1144	c.665C>T	c.(664-666)cCa>cTa	p.P222L	NTM_ENST00000539799.1_Missense_Mutation_p.P222L|NTM_ENST00000425719.2_Missense_Mutation_p.P222L|NTM_ENST00000427481.2_Missense_Mutation_p.P213L|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Missense_Mutation_p.P222L|NTM_ENST00000374791.3_Missense_Mutation_p.P222L	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	222	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.P222L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TTTGCAGATCCACCATACATT	0.502																																							uc001qgp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(664-666)CCA>CTA		neurotrimin isoform 1							104.0	107.0	106.0					11																	132180009		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132180009C>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.665C>T	11.37:g.132180009C>T	ENSP00000363918:p.Pro222Leu					NTM_uc001qgm.2_Missense_Mutation_p.P222L|NTM_uc010sch.1_Missense_Mutation_p.P213L|NTM_uc010sci.1_Missense_Mutation_p.P222L|NTM_uc010scj.1_Missense_Mutation_p.P181L|NTM_uc001qgo.2_Missense_Mutation_p.P222L|NTM_uc001qgq.2_Missense_Mutation_p.P222L|NTM_uc001qgr.2_5'UTR	p.P222L	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			5	1329	+			222			Ig-like C2-type 3.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.665C>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061174	0.93846	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89;-0.89	5.86	5.86	0.93980	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	D	0.89480	0.6727	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.995;0.998;0.997;1.0	D;D;D;D;D;D	0.78314	0.98;0.973;0.922;0.973;0.962;0.991	D	0.90634	0.4569	10	0.87932	D	0	-12.3088	20.1868	0.98223	0.0:1.0:0.0:0.0	.	222;213;222;222;222;222	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	L	222;222;213;222;222;222	ENSP00000363923:P222L;ENSP00000437668:P222L;ENSP00000416320:P213L;ENSP00000363918:P222L;ENSP00000396722:P222L;ENSP00000363916:P222L	ENSP00000363916:P222L	P	+	2	0	NTM	131685219	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.198000	0.77823	2.781000	0.95711	0.655000	0.94253	CCA		0.502	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		59	170	0	0	0	0.00361	0	59	170				
C12orf4	57102	broad.mit.edu	37	12	4645226	4645226	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:4645226T>C	ENST00000261250.3	-	2	222	c.135A>G	c.(133-135)ggA>ggG	p.G45G	RAD51AP1_ENST00000321524.7_5'Flank|C12orf4_ENST00000545746.1_Silent_p.G45G|RAD51AP1_ENST00000352618.4_5'Flank|RAD51AP1_ENST00000544927.1_5'Flank|RAD51AP1_ENST00000543041.1_5'Flank|RAD51AP1_ENST00000228843.9_5'Flank	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	45								p.G45G(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		GCATCAGACGTCCATGCAAAT	0.363																																							uc001qms.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(133-135)GGA>GGG		hypothetical protein LOC57102							121.0	114.0	117.0					12																	4645226		2203	4300	6503	SO:0001819	synonymous_variant	57102							g.chr12:4645226T>C	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.135A>G	12.37:g.4645226T>C						C12orf4_uc001qmt.2_Silent_p.G45G|RAD51AP1_uc001qmw.2_5'Flank|RAD51AP1_uc001qmu.2_5'Flank|RAD51AP1_uc001qmv.2_5'Flank|RAD51AP1_uc010sep.1_5'Flank|RAD51AP1_uc010seq.1_5'Flank	p.G45G	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	2	223	-			45					D3DUQ8|Q6MZH5	Silent	SNP	ENST00000261250.3	37	c.135A>G	CCDS8528.1																																																																																				0.363	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374		9	166	0	0	0	0.006214	0	9	166				
NTF3	4908	broad.mit.edu	37	12	5603588	5603588	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:5603588C>A	ENST00000331010.6	+	1	291	c.208C>A	c.(208-210)Cga>Aga	p.R70R	NTF3_ENST00000423158.3_Silent_p.R83R|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	70					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)	p.R70R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TGAGGCTCCCCGAGAGCCGGA	0.557																																					GBM(194;1104 2182 8339 9578 18493)	GBM(194;1104 2182 8339 9578 18493)	uc001qnl.3		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(208-210)CGA>AGA		neurotrophin 3 isoform 2 preproprotein							43.0	49.0	47.0					12																	5603588		2203	4300	6503	SO:0001819	synonymous_variant	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603588C>A		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.208C>A	12.37:g.5603588C>A						NTF3_uc001qnk.3_Silent_p.R83R	p.R70R	NM_002527	NP_002518	P20783	NTF3_HUMAN			1	291	+			70					B7Z1T5|Q6FH50	Silent	SNP	ENST00000331010.6	37	c.208C>A	CCDS8538.1																																																																																				0.557	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			13	120	1	0	4.7546e-09	0.004007	6.05285e-09	13	120				
VWF	7450	broad.mit.edu	37	12	6167018	6167018	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:6167018T>G	ENST00000261405.5	-	14	1980	c.1726A>C	c.(1726-1728)Atg>Ctg	p.M576L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	576	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.M576L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CACATACTCATGCGCGGGTTG	0.662																																							uc001qnn.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(1726-1728)ATG>CTG		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						70.0	71.0	71.0					12																	6167018		2201	4299	6500	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6167018T>G		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1726A>C	12.37:g.6167018T>G	ENSP00000261405:p.Met576Leu					VWF_uc010set.1_Missense_Mutation_p.M576L	p.M576L	NM_000552	NP_000543	P04275	VWF_HUMAN			14	1976	-			576			VWFD 2.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.1726A>C	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.425345	0.25639	.	.	ENSG00000110799	ENST00000261405	T	0.34072	1.38	4.54	-0.817	0.10836	von Willebrand factor, type D domain (1);	0.894418	0.09027	N	0.859285	T	0.08626	0.0214	N	0.00368	-1.59	0.30394	N	0.780718	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24941	-1.0146	10	0.34782	T	0.22	.	3.5333	0.07785	0.5308:0.0:0.2668:0.2024	.	576;576	B4DNX0;P04275	.;VWF_HUMAN	L	576	ENSP00000261405:M576L	ENSP00000261405:M576L	M	-	1	0	VWF	6037279	0.990000	0.36364	0.281000	0.24762	0.567000	0.35839	0.508000	0.22692	-0.024000	0.13941	0.260000	0.18958	ATG		0.662	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		43	285	0	0	0	0.00361	0	43	285				
MLF2	8079	broad.mit.edu	37	12	6861144	6861144	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:6861144T>A	ENST00000203630.5	-	3	771	c.127A>T	c.(127-129)Atc>Ttc	p.I43F	MLF2_ENST00000564181.1_5'Flank|MLF2_ENST00000435120.1_Missense_Mutation_p.I43F|MLF2_ENST00000539187.1_Missense_Mutation_p.I43F|MLF2_ENST00000542154.1_Missense_Mutation_p.I43F			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	43					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.I43F(1)		kidney(2)|large_intestine(3)|lung(4)	9						CCATCTGTGATGCTGAGGAAG	0.537											OREG0021633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010sfi.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(127-129)ATC>TTC		myeloid leukemia factor 2							93.0	83.0	86.0					12																	6861144		2203	4300	6503	SO:0001583	missense	8079				defense response	cytoplasm|nucleus	protein binding	g.chr12:6861144T>A	U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.127A>T	12.37:g.6861144T>A	ENSP00000203630:p.Ile43Phe		OREG0021633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	637	MLF2_uc001qqp.2_Missense_Mutation_p.I43F|MLF2_uc009zey.1_Missense_Mutation_p.I43F	p.I43F	NM_005439	NP_005430	Q15773	MLF2_HUMAN			3	190	-			43						Missense_Mutation	SNP	ENST00000203630.5	37	c.127A>T	CCDS8559.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.898429	0.33535	.	.	ENSG00000089693	ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187;ENST00000537126;ENST00000540710;ENST00000536207	.	.	.	4.84	3.69	0.42338	.	0.280588	0.34750	N	0.003719	T	0.48804	0.1520	L	0.54323	1.7	0.49582	D	0.999807	B	0.33413	0.411	B	0.34093	0.175	T	0.44421	-0.9329	9	0.49607	T	0.09	.	6.4852	0.22085	0.0:0.0803:0.1566:0.7631	.	43	Q15773	MLF2_HUMAN	F	43	.	ENSP00000203630:I43F	I	-	1	0	MLF2	6731405	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.215000	0.32431	0.694000	0.31654	0.459000	0.35465	ATC		0.537	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2			20	212	0	0	0	0.001882	0	20	212				
LEPREL2	10536	broad.mit.edu	37	12	6939836	6939836	+	RNA	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:6939836G>T	ENST00000538102.1	+	0	105				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000606935.1_RNA			Q8IVL6	P3H3_HUMAN	leprecan-like 2						extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)	endoplasmic reticulum lumen (GO:0005788)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)	p.R295L(1)|p.R111L(1)		breast(1)|cervix(1)|endometrium(2)|lung(6)	10					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGCCGGCAACGCTGTGTGGGG	0.622																																							uc001qra.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(886-888)CGC>CTC		leprecan-like 2 precursor	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						34.0	38.0	37.0					12																	6939836		2023	4178	6201			10536				negative regulation of cell proliferation	endoplasmic reticulum	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 3-dioxygenase activity	g.chr12:6939836G>T	U47926	CCDS61027.1	12p13.31	2014-03-25			ENSG00000110811	ENSG00000110811			19318	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 3"""	610342				15063763	Standard	NM_014262		Approved	GRCB, HSU47926, P3H3		Q8IVL6	OTTHUMG00000168516		12.37:g.6939836G>T						LEPREL2_uc001qqz.1_Missense_Mutation_p.R103L|LEPREL2_uc001qrb.1_Missense_Mutation_p.R103L	p.R296L	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN			6	921	+			296					Q13512|Q15740|Q66K32|Q6NX61|Q7L2T1	Missense_Mutation	SNP	ENST00000538102.1	37	c.887G>T		.	.	.	.	.	.	.	.	.	.	G	10.54	1.379779	0.24944	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.37235	1.21;1.21	4.76	3.85	0.44370	.	0.401248	0.27618	N	0.018575	T	0.23806	0.0576	.	.	.	0.25178	N	0.990221	P	0.37276	0.589	B	0.34418	0.182	T	0.10042	-1.0647	9	0.36615	T	0.2	-19.8861	7.8543	0.29472	0.2519:0.0:0.7481:0.0	.	296	Q8IVL6	P3H3_HUMAN	L	295;111	ENSP00000379951:R295L;ENSP00000290510:R111L	ENSP00000290510:R111L	R	+	2	0	LEPREL2	6810097	0.989000	0.36119	1.000000	0.80357	0.023000	0.10783	1.346000	0.33964	1.109000	0.41680	0.491000	0.48974	CGC		0.622	LEPREL2-006	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000399998.1	NM_014262		8	30	1	0	0.000157383	0.00308	0.000173315	8	30				
CD163L1	283316	broad.mit.edu	37	12	7586276	7586276	+	Missense_Mutation	SNP	C	C	G	rs374456374		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:7586276C>G	ENST00000313599.3	-	3	196	c.139G>C	c.(139-141)Gag>Cag	p.E47Q	CD163L1_ENST00000416109.2_Missense_Mutation_p.E47Q|CD163L1_ENST00000396630.1_Missense_Mutation_p.E47Q			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	47						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.E47*(1)|p.E47Q(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						AGCCTCAACTCCAAATCTGTT	0.458																																							uc001qsy.2		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(139-141)GAG>CAG		scavenger receptor cysteine-rich type 1							119.0	100.0	106.0					12																	7586276		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7586276C>G	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.139G>C	12.37:g.7586276C>G	ENSP00000315945:p.Glu47Gln					CD163L1_uc010sge.1_Missense_Mutation_p.E47Q	p.E47Q	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			3	165	-			47			Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.139G>C	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	3.014	-0.203273	0.06180	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.28666	1.6;1.6;1.6	2.22	-0.803	0.10886	Speract/scavenger receptor-related (1);	1.516350	0.05114	U	0.489447	T	0.18964	0.0455	L	0.32530	0.975	0.09310	N	1	B;B	0.33694	0.421;0.421	B;B	0.26969	0.075;0.075	T	0.17410	-1.0370	10	0.15952	T	0.53	.	6.5615	0.22489	0.0:0.6087:0.0:0.3913	.	47;47	E7EVK4;Q9NR16	.;C163B_HUMAN	Q	47	ENSP00000315945:E47Q;ENSP00000393474:E47Q;ENSP00000379871:E47Q	ENSP00000315945:E47Q	E	-	1	0	CD163L1	7477543	0.000000	0.05858	0.001000	0.08648	0.370000	0.29829	0.094000	0.15107	-0.232000	0.09811	0.563000	0.77884	GAG		0.458	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		21	137	0	0	0	0.005443	0	21	137				
CD163	9332	broad.mit.edu	37	12	7654058	7654059	+	Splice_Site	DNP	CC	CC	AA			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:7654058_7654059CC>AA	ENST00000359156.4	-	3	336	c.134_134GG>TT	c.(133-135)gGGg>gTTgg	p.G45V	CD163_ENST00000432237.2_Splice_Site_p.G45V|CD163_ENST00000396620.3_Splice_Site_p.G45V|CD163_ENST00000541972.1_Splice_Site_p.G33V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	45					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.?(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)	GTCTGTTCCTCCTGCAACAATG	0.416																																							uc001qsz.3		NA																	1	Unknown(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.e3-1		CD163 antigen isoform a																																				SO:0001630	splice_region_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7654058_7654059CC>AA	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.134_134delinsAA	12.37:g.7654058_7654059delinsAA						CD163_uc001qta.3_Splice_Site_p.G45_splice|CD163_uc009zfw.2_Splice_Site_p.G45_splice	p.G45_splice	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			3	262	-								C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Splice_Site	DNP	ENST00000359156.4	37	c.134_splice	CCDS8578.1																																																																																				0.416	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	Missense_Mutation	19	161	0	0	0	0.004672	0	19	161				
NANOGP1	404635	broad.mit.edu	37	12	8048236	8048236	+	RNA	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:8048236C>A	ENST00000607111.1	+	0	164							Q8N7R0	NANG2_HUMAN	Nanog homeobox pseudogene 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T48T(1)		kidney(1)|lung(4)|prostate(1)	6						TCTCTTCCACCCAGCTGTGTG	0.468																																							uc001qtp.1		NA																	1	Substitution - coding silent(1)		lung(1)		NA						c.(142-144)ACC>ACA		RecName: Full=Putative homeobox protein NANOG2;																																						0							g.chr12:8048236C>A	AY455283		12p13.31	2014-03-20			ENSG00000176654	ENSG00000176654		"""Homeoboxes / ANTP class : NKL subclass"""	23099	pseudogene	pseudogene						15108323, 15233988	Standard	NG_006522		Approved	NANOG2	uc001qtp.1	Q8N7R0	OTTHUMG00000166020		12.37:g.8048236C>A							p.T48T							2	224	+									Silent	SNP	ENST00000607111.1	37	c.144C>A																																																																																					0.468	NANOGP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470953.1			20	137	1	0	1.15919e-05	0.008871	1.3211e-05	20	137				
CLEC4A	50856	broad.mit.edu	37	12	8289466	8289466	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:8289466G>T	ENST00000229332.5	+	5	780	c.533G>T	c.(532-534)tGg>tTg	p.W178L	CLEC4A_ENST00000360500.3_Missense_Mutation_p.W139L|CLEC4A_ENST00000352620.3_Missense_Mutation_p.W145L|CLEC4A_ENST00000345999.3_Missense_Mutation_p.W106L	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	178	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.W178L(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		CATTGGCAATGGGTTGATCAG	0.443																																							uc001qtz.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(532-534)TGG>TTG		C-type lectin domain family 4, member A isoform							107.0	108.0	108.0					12																	8289466		2203	4300	6503	SO:0001583	missense	50856				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:8289466G>T	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.533G>T	12.37:g.8289466G>T	ENSP00000229332:p.Trp178Leu					CLEC4A_uc009zga.1_Missense_Mutation_p.W139L|CLEC4A_uc001qub.1_Missense_Mutation_p.W145L|CLEC4A_uc001quc.1_Missense_Mutation_p.W106L|CLEC4A_uc009zgb.1_Missense_Mutation_p.M94I|uc010sgi.1_5'Flank	p.W178L	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN		Kidney(36;0.0915)	5	780	+			178			Extracellular (Potential).|C-type lectin.		Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	ENST00000229332.5	37	c.533G>T	CCDS8590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.166|6.166	0.398737|0.398737	0.11696|0.11696	.|.	.|.	ENSG00000111729|ENSG00000111729	ENST00000546339|ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	T|T;T;T;T	0.46819|0.36699	0.86|1.24;1.24;1.24;1.24	3.98|3.98	3.98|3.98	0.46160|0.46160	.|C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.|0.000000	.|0.36066	.|N	.|0.002812	T|T	0.67878|0.67878	0.2940|0.2940	H|H	0.95470|0.95470	3.675|3.675	0.40048|0.40048	D|D	0.975745|0.975745	.|D;D;D;D	.|0.76494	.|0.999;0.996;0.999;0.999	.|D;D;D;D	.|0.70016	.|0.945;0.919;0.944;0.967	T|T	0.77688|0.77688	-0.2494|-0.2494	7|10	0.87932|0.87932	D|D	0|0	.|.	11.8523|11.8523	0.52417|0.52417	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|139;106;145;178	.|Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.|.;.;.;CLC4A_HUMAN	I|L	83|178;106;145;139	ENSP00000443082:M83I|ENSP00000229332:W178L;ENSP00000344646:W106L;ENSP00000247243:W145L;ENSP00000353690:W139L	ENSP00000443082:M83I|ENSP00000229332:W178L	M|W	+|+	3|2	0|0	CLEC4A|CLEC4A	8180733|8180733	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.142000|0.142000	0.21351|0.21351	4.067000|4.067000	0.57527|0.57527	2.488000|2.488000	0.83962|0.83962	0.650000|0.650000	0.86243|0.86243	ATG|TGG		0.443	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450		18	88	1	0	1.50039e-11	0.001882	2.01738e-11	18	88				
MFAP5	8076	broad.mit.edu	37	12	8813495	8813495	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:8813495C>A	ENST00000359478.2	-	3	246		c.e3-1		MFAP5_ENST00000433590.2_Splice_Site|MFAP5_ENST00000538107.1_Splice_Site|MFAP5_ENST00000396549.2_Splice_Site|MFAP5_ENST00000540087.1_Splice_Site|MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000535336.1_Splice_Site	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5						extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					GGTATCCAGTCTATAGCAAAG	0.433																																							uc001qut.1		NA																	1	Unknown(1)		lung(1)	breast(1)	1						c.e3-1		microfibrillar associated protein 5 precursor							90.0	91.0	91.0					12																	8813495		2203	4300	6503	SO:0001630	splice_region_variant	8076					microfibril	extracellular matrix structural constituent	g.chr12:8813495C>A	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.59-1G>T	12.37:g.8813495C>A						MFAP5_uc001qus.2_Splice_Site_p.D20_splice|MFAP5_uc009zge.1_Splice_Site_p.D20_splice	p.D20_splice	NM_003480	NP_003471	Q13361	MFAP5_HUMAN			3	272	-	Lung SC(5;0.184)							B0AZL6|D3DUV1|Q7Z490	Splice_Site	SNP	ENST00000359478.2	37	c.59_splice	CCDS8595.1	.	.	.	.	.	.	.	.	.	.	c	7.302	0.613198	0.14066	.	.	ENSG00000197614	ENST00000535411;ENST00000359478;ENST00000433590;ENST00000396549;ENST00000535336;ENST00000540087;ENST00000544889	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5715	0.61849	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MFAP5	8704762	0.936000	0.31750	0.434000	0.26772	0.018000	0.09664	3.517000	0.53443	2.657000	0.90304	0.655000	0.94253	.		0.433	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480	Intron	11	36	1	0	1.49906e-05	0.00245	1.70305e-05	11	36				
TAS2R14	50840	broad.mit.edu	37	12	11091741	11091741	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:11091741T>A	ENST00000537503.1	-	1	121	c.66A>T	c.(64-66)ttA>ttT	p.L22F	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	22					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.L22F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						AACTATTTCCTAAATTTCCAA	0.393																																							uc010shi.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(64-66)TTA>TTT		taste receptor, type 2, member 14							54.0	57.0	56.0					12																	11091741		2199	4288	6487	SO:0001583	missense	50840				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity	g.chr12:11091741T>A	AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000537503.1:c.66A>T	12.37:g.11091741T>A	ENSP00000441949:p.Leu22Phe					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.L22F	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN			1	66	-			22			Helical; Name=1; (Potential).		Q645X3	Missense_Mutation	SNP	ENST00000537503.1	37	c.66A>T	CCDS8637.1	.	.	.	.	.	.	.	.	.	.	T	3.643	-0.073173	0.07184	.	.	ENSG00000212127	ENST00000537503	T	0.01126	5.3	3.94	-7.87	0.01183	.	0.260319	0.25619	U	0.029436	T	0.00875	0.0029	L	0.39692	1.235	0.09310	N	1	P	0.44195	0.828	P	0.48524	0.58	T	0.50145	-0.8862	10	0.02654	T	1	.	0.8154	0.01101	0.4011:0.2597:0.1163:0.2229	.	22	Q9NYV8	T2R14_HUMAN	F	22	ENSP00000441949:L22F	ENSP00000375094:L22F	L	-	3	2	TAS2R14	10983008	0.000000	0.05858	0.000000	0.03702	0.226000	0.24999	-5.218000	0.00140	-2.008000	0.00955	-0.408000	0.06270	TTA		0.393	TAS2R14-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370194.4	NM_023922		9	61	0	0	0	0.006214	0	9	61				
SLCO1B3	28234	broad.mit.edu	37	12	21015459	21015459	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:21015459T>G	ENST00000381545.3	+	7	814	c.595T>G	c.(595-597)Ttt>Gtt	p.F199V	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.F199V|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.F199V|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.F199V	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	199					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)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	CATTGATGATTTTGCAAAAGA	0.378																																							uc001rek.2		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(595-597)TTT>GTT		solute carrier organic anion transporter family,							132.0	128.0	129.0					12																	21015459		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21015459T>G		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.595T>G	12.37:g.21015459T>G	ENSP00000370956:p.Phe199Val					SLCO1B3_uc001rel.2_Missense_Mutation_p.F199V|SLCO1B3_uc010sil.1_Missense_Mutation_p.F199V|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.F24V	p.F199V	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			6	721	+	Esophageal squamous(101;0.149)		199			Cytoplasmic (Potential).		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.595T>G	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	T	19.31	3.802841	0.70682	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	3.9	3.9	0.45041	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.73156	0.3551	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.993;0.996;0.996	T	0.79507	-0.1775	10	0.66056	D	0.02	.	12.7374	0.57232	0.0:0.0:0.0:1.0	.	199;199;199	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	V	199;199;199;199;23;199	ENSP00000442000:F199V;ENSP00000261196:F199V;ENSP00000370956:F199V;ENSP00000451758:F199V;ENSP00000443225:F23V;ENSP00000441269:F199V	ENSP00000441269:F199V	F	+	1	0	SLCO1B3;RP11-545J16.1	20906726	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.564000	0.82326	1.415000	0.47037	0.377000	0.23210	TTT		0.378	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		29	64	0	0	0	0.00632	0	29	64				
OVCH1	341350	broad.mit.edu	37	12	29648297	29648297	+	Silent	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:29648297A>T	ENST00000318184.5	-	4	374	c.375T>A	c.(373-375)atT>atA	p.I125I		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	125	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.I125I(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CAGGATGGGTAATAATTTTTG	0.383																																							uc001rix.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(373-375)ATT>ATA		ovochymase 1 precursor							167.0	153.0	158.0					12																	29648297		1825	4084	5909	SO:0001819	synonymous_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29648297A>T	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.375T>A	12.37:g.29648297A>T							p.I125I	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			4	375	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		125			Peptidase S1 1.			Silent	SNP	ENST00000318184.5	37	c.375T>A																																																																																					0.383	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		99	71	0	0	0	0.00361	0	99	71				
TMTC1	83857	broad.mit.edu	37	12	29709830	29709830	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:29709830G>T	ENST00000539277.1	-	10	1694	c.1636C>A	c.(1636-1638)Cag>Aag	p.Q546K	TMTC1_ENST00000552618.1_Missense_Mutation_p.Q570K|TMTC1_ENST00000256062.5_Missense_Mutation_p.Q438K|TMTC1_ENST00000551659.1_Missense_Mutation_p.Q608K|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.Q500K	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	546						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.Q438K(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CGGTTATGCTGTGGATGGAGC	0.507																																							uc001rjb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1312-1314)CAG>AAG		transmembrane and tetratricopeptide repeat							208.0	174.0	185.0					12																	29709830		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29709830G>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1636C>A	12.37:g.29709830G>T	ENSP00000442046:p.Gln546Lys					TMTC1_uc001riz.2_Missense_Mutation_p.Q195K|TMTC1_uc001rja.2_Missense_Mutation_p.Q282K|TMTC1_uc001rjc.1_Missense_Mutation_p.Q500K	p.Q438K	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			10	1786	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		546			TPR 2.		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1312C>A	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.734930	0.69189	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.75154	0.69;0.69;0.31;0.69;-0.91	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	N	0.08118	0	0.58432	D	0.999995	B;B;B	0.29862	0.259;0.006;0.04	B;B;B	0.23574	0.047;0.012;0.01	T	0.54589	-0.8271	9	.	.	.	-14.9696	17.9347	0.89009	0.0:0.0:1.0:0.0	.	500;546;608	Q8IUR5-3;Q8IUR5;F8VTQ9	.;TMTC1_HUMAN;.	K	309;438;608;570;546;500	ENSP00000256062:Q438K;ENSP00000448112:Q608K;ENSP00000449043:Q570K;ENSP00000442046:Q546K;ENSP00000370622:Q500K	.	Q	-	1	0	TMTC1	29601097	1.000000	0.71417	0.953000	0.39169	0.971000	0.66376	7.130000	0.77235	2.576000	0.86940	0.655000	0.94253	CAG		0.507	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		26	79	1	0	2.65835e-16	0.007291	3.87421e-16	26	79				
SLC2A13	114134	broad.mit.edu	37	12	40158324	40158324	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:40158324C>A	ENST00000280871.4	-	9	1708	c.1658G>T	c.(1657-1659)tGg>tTg	p.W553L		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	553					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.W534L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ATTGAAAATCCAGTTTATTCC	0.338										HNSCC(50;0.14)																													uc010skm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1657-1659)TGG>TTG		solute carrier family 2 (facilitated glucose							109.0	110.0	110.0					12																	40158324		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40158324C>A	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1658G>T	12.37:g.40158324C>A	ENSP00000280871:p.Trp553Leu	HNSCC(50;0.14)				C12orf40_uc009zjv.1_Intron	p.W553L	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN			9	1709	-		Lung NSC(34;0.105)|all_lung(34;0.123)	553			Helical; Name=11; (Potential).		Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.1658G>T	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459713	0.84317	.	.	ENSG00000151229	ENST00000280871	T	0.77877	-1.13	5.63	4.74	0.60224	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.88310	0.6402	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89701	0.3905	10	0.62326	D	0.03	-9.0368	15.8828	0.79216	0.1366:0.8634:0.0:0.0	.	553	Q96QE2	MYCT_HUMAN	L	553	ENSP00000280871:W553L	ENSP00000280871:W553L	W	-	2	0	SLC2A13	38444591	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.421000	0.80204	1.357000	0.45904	0.650000	0.86243	TGG		0.338	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			36	91	1	0	3.21399e-22	0.004878	5.03121e-22	36	91				
LRRK2	120892	broad.mit.edu	37	12	40651089	40651089	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:40651089T>C	ENST00000298910.7	+	12	1386	c.1328T>C	c.(1327-1329)cTg>cCg	p.L443P	LRRK2_ENST00000343742.2_Missense_Mutation_p.L443P	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	443					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.L443P(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)				GGAATACACCTGAATGTTTTG	0.284																																							uc001rmg.3		NA																	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.(1327-1329)CTG>CCG		leucine-rich repeat kinase 2							87.0	89.0	88.0					12																	40651089		2202	4299	6501	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.chr12:40651089T>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.1328T>C	12.37:g.40651089T>C	ENSP00000298910:p.Leu443Pro					LRRK2_uc001rmh.1_Missense_Mutation_p.L65P	p.L443P	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			12	1449	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	443					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.1328T>C	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.113226	0.56398	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.27720	1.65;1.65	6.07	4.97	0.65823	Armadillo-like helical (1);Armadillo-type fold (1);	0.477745	0.21857	N	0.068082	T	0.24392	0.0591	L	0.29908	0.895	0.44611	D	0.997585	P;P	0.49447	0.924;0.856	B;B	0.40782	0.34;0.328	T	0.04333	-1.0959	10	0.66056	D	0.02	.	13.189	0.59700	0.0:0.0:0.1596:0.8403	.	443;443	E9PC85;Q5S007	.;LRRK2_HUMAN	P	443	ENSP00000341930:L443P;ENSP00000298910:L443P	ENSP00000298910:L443P	L	+	2	0	LRRK2	38937356	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	2.844000	0.48246	2.326000	0.78906	0.533000	0.62120	CTG		0.284	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		5	62	0	0	0	0.001168	0	5	62				
PDZRN4	29951	broad.mit.edu	37	12	41967276	41967276	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:41967276C>G	ENST00000402685.2	+	10	2703	c.2695C>G	c.(2695-2697)Cgg>Ggg	p.R899G	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R641G|PDZRN4_ENST00000298919.7_Missense_Mutation_p.R639G	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	899							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R641G(1)|p.R899G(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)				CGACGGGACACGGTACATCAC	0.517																																							uc010skn.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(2098-2100)CGG>GGG		PDZ domain containing RING finger 4 isoform 2							109.0	98.0	102.0					12																	41967276		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967276C>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.2695C>G	12.37:g.41967276C>G	ENSP00000384197:p.Arg899Gly					PDZRN4_uc001rmq.3_Missense_Mutation_p.R641G|PDZRN4_uc009zjz.2_Missense_Mutation_p.R639G|PDZRN4_uc001rmr.2_Missense_Mutation_p.R526G	p.R700G	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	2166	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	899					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.2098C>G	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816028	0.50527	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.50001	0.76;0.76;0.76	5.34	4.44	0.53790	.	0.000000	0.64402	D	0.000001	T	0.68860	0.3047	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.73199	-0.4058	10	0.87932	D	0	-17.0679	9.6797	0.40063	0.258:0.6282:0.1138:0.0	.	899;639;641	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	G	899;641;639	ENSP00000384197:R899G;ENSP00000439990:R641G;ENSP00000298919:R639G	ENSP00000298919:R639G	R	+	1	2	PDZRN4	40253543	0.931000	0.31567	0.868000	0.34077	0.922000	0.55478	2.008000	0.40893	1.559000	0.49555	0.650000	0.86243	CGG		0.517	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		27	131	0	0	0	0.00632	0	27	131				
TMEM117	84216	broad.mit.edu	37	12	44605102	44605102	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:44605102C>A	ENST00000266534.3	+	5	667	c.540C>A	c.(538-540)ccC>ccA	p.P180P	TMEM117_ENST00000551577.1_Silent_p.P180P|TMEM117_ENST00000536799.1_Silent_p.P76P	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.P180P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		AGGACAAACCCTATCCTGACT	0.358																																							uc001rod.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(538-540)CCC>CCA		transmembrane protein 117							107.0	107.0	107.0					12																	44605102		2203	4300	6503	SO:0001819	synonymous_variant	84216					endoplasmic reticulum|integral to membrane		g.chr12:44605102C>A	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.540C>A	12.37:g.44605102C>A						TMEM117_uc001roe.2_Silent_p.P76P|TMEM117_uc009zkc.2_Silent_p.P180P	p.P180P	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	5	606	+	Lung SC(27;0.192)		180						Silent	SNP	ENST00000266534.3	37	c.540C>A	CCDS8745.1																																																																																				0.358	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		14	60	1	0	3.45872e-05	0.004007	3.90465e-05	14	60				
PCED1B	91523	broad.mit.edu	37	12	47629393	47629393	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:47629393C>A	ENST00000546455.1	+	4	1278	c.547C>A	c.(547-549)Cgg>Agg	p.R183R	PCED1B_ENST00000432328.1_Silent_p.R183R|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	183							hydrolase activity (GO:0016787)	p.R183R(1)									CAAGCTCCGGCGGCAGAAGGC	0.587																																							uc001rpn.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(547-549)CGG>AGG		hypothetical protein LOC91523							30.0	28.0	29.0					12																	47629393		2203	4298	6501	SO:0001819	synonymous_variant	91523						hydrolase activity	g.chr12:47629393C>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.547C>A	12.37:g.47629393C>A						FAM113B_uc010slj.1_Silent_p.R63R|FAM113B_uc001rpq.2_Silent_p.R183R	p.R183R	NM_138371	NP_612380	Q96HM7	F113B_HUMAN			4	1278	+	Renal(347;0.138)|Lung SC(27;0.192)		183					Q96B20	Silent	SNP	ENST00000546455.1	37	c.547C>A	CCDS8752.1																																																																																				0.587	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		23	23	1	0	2.89027e-11	0.002299	3.84299e-11	23	23				
TFCP2	7024	broad.mit.edu	37	12	51500371	51500371	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:51500371T>A	ENST00000257915.5	-	8	1312	c.854A>T	c.(853-855)tAt>tTt	p.Y285F	TFCP2_ENST00000307660.4_Missense_Mutation_p.Y234F|TFCP2_ENST00000549867.1_Missense_Mutation_p.Y285F|TFCP2_ENST00000548115.1_Missense_Mutation_p.Y234F	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	285	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y285F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GTTATTGACATACGTGATCTC	0.403																																							uc001rxw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(853-855)TAT>TTT		transcription factor CP2							95.0	88.0	90.0					12																	51500371		2203	4300	6503	SO:0001583	missense	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51500371T>A	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.854A>T	12.37:g.51500371T>A	ENSP00000257915:p.Tyr285Phe					TFCP2_uc001rxv.1_Missense_Mutation_p.Y285F|TFCP2_uc009zlx.1_Missense_Mutation_p.Y234F|TFCP2_uc001rxx.2_Missense_Mutation_p.Y285F|TFCP2_uc009zly.1_Missense_Mutation_p.Y187F	p.Y285F	NM_005653	NP_005644	Q12800	TFCP2_HUMAN			8	1313	-			285			DNA-binding.		A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	37	c.854A>T	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.373341	0.82573	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115;ENST00000548108	T;T;T;T;T	0.46451	2.22;0.87;2.21;0.87;2.21	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	L	0.39898	1.24	0.58432	D	0.999994	D;D;D;P	0.67145	0.996;0.983;0.966;0.696	D;P;P;B	0.73380	0.98;0.857;0.716;0.257	T	0.39921	-0.9590	10	0.10902	T	0.67	-13.4229	14.7695	0.69665	0.0:0.0:0.0:1.0	.	234;285;285;285	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	F	285;234;285;234;187	ENSP00000257915:Y285F;ENSP00000304411:Y234F;ENSP00000449742:Y285F;ENSP00000447991:Y234F;ENSP00000449280:Y187F	ENSP00000257915:Y285F	Y	-	2	0	TFCP2	49786638	1.000000	0.71417	0.956000	0.39512	0.916000	0.54674	7.966000	0.87956	2.193000	0.70182	0.533000	0.62120	TAT		0.403	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653		11	38	0	0	0	0.001368	0	11	38				
KRT72	140807	broad.mit.edu	37	12	52985302	52985302	+	Silent	SNP	G	G	A	rs112771714	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:52985302G>A	ENST00000537672.2	-	5	919	c.909C>T	c.(907-909)taC>taT	p.Y303Y	KRT72_ENST00000354310.4_Silent_p.Y303Y|KRT72_ENST00000398066.3_Silent_p.Y115Y|KRT72_ENST00000293745.2_Silent_p.Y303Y	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	303	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.Y303Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CAATCTCCTCGTACTGGGCAC	0.587																																							uc001sar.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(907-909)TAC>TAT		keratin 72 isoform 1		G	,,	0,4406		0,0,2203	161.0	123.0	136.0		909,909,909	-7.7	0.8	12	dbSNP_132	136	5,8595	4.3+/-15.6	0,5,4295	yes	coding-synonymous,coding-synonymous,coding-synonymous	KRT72	NM_001146225.1,NM_001146226.1,NM_080747.2	,,	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	,,	303/512,303/470,303/512	52985302	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	140807					keratin filament	structural molecule activity	g.chr12:52985302G>A	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.909C>T	12.37:g.52985302G>A						KRT72_uc001saq.2_Silent_p.Y303Y|KRT72_uc010sns.1_Silent_p.Y303Y|KRT72_uc010snt.1_Silent_p.Y115Y	p.Y303Y	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	5	995	-			303			Coil 2.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	ENST00000537672.2	37	c.909C>T	CCDS8833.1																																																																																				0.587	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		9	79	0	0	0	0.006214	0	9	79				
LRP1	4035	broad.mit.edu	37	12	57572789	57572789	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:57572789A>T	ENST00000243077.3	+	28	5189	c.4723A>T	c.(4723-4725)Aac>Tac	p.N1575Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1575	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.N1575Y(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCACAAGGACAACACCACCTG	0.642																																							uc001snd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(4723-4725)AAC>TAC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						111.0	103.0	106.0					12																	57572789		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57572789A>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4723A>T	12.37:g.57572789A>T	ENSP00000243077:p.Asn1575Tyr						p.N1575Y	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	28	5189	+			1575			EGF-like 7.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.4723A>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.045406	0.36085	.	.	ENSG00000123384	ENST00000243077	D	0.88586	-2.4	4.44	4.44	0.53790	Epidermal growth factor-like (1);	0.230298	0.33895	N	0.004450	D	0.89928	0.6857	M	0.84156	2.68	0.80722	D	1	P	0.52842	0.956	P	0.44732	0.459	D	0.90693	0.4614	10	0.49607	T	0.09	.	13.1023	0.59226	1.0:0.0:0.0:0.0	.	1575	Q07954	LRP1_HUMAN	Y	1575	ENSP00000243077:N1575Y	ENSP00000243077:N1575Y	N	+	1	0	LRP1	55859056	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	7.164000	0.77533	1.997000	0.58415	0.533000	0.62120	AAC		0.642	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		80	89	0	0	0	0.00361	0	80	89				
OS9	10956	broad.mit.edu	37	12	58089584	58089584	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:58089584G>A	ENST00000315970.7	+	3	402	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000413095.2_Missense_Mutation_p.E121K|OS9_ENST00000389142.5_Missense_Mutation_p.E121K|OS9_ENST00000551035.1_Missense_Mutation_p.E121K|OS9_ENST00000257966.8_Missense_Mutation_p.E121K|OS9_ENST00000435406.2_Missense_Mutation_p.E121K|OS9_ENST00000552285.1_Missense_Mutation_p.E121K|OS9_ENST00000439210.2_Missense_Mutation_p.E62K|OS9_ENST00000389146.6_Missense_Mutation_p.E121K	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	121	PRKCSH.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)	p.E121K(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTGGACATATGAATTCTGTTA	0.433																																							uc001spj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(361-363)GAA>AAA		osteosarcoma amplified 9, endoplasmic reticulum							139.0	123.0	128.0					12																	58089584		2203	4300	6503	SO:0001583	missense	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58089584G>A	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.361G>A	12.37:g.58089584G>A	ENSP00000318165:p.Glu121Lys					OS9_uc010srx.1_Missense_Mutation_p.E121K|OS9_uc001spk.2_Missense_Mutation_p.E121K|OS9_uc001spl.2_Missense_Mutation_p.E121K|OS9_uc001spm.2_Missense_Mutation_p.E121K|OS9_uc001spn.2_Missense_Mutation_p.E121K|OS9_uc010sry.1_Missense_Mutation_p.E121K|OS9_uc010srz.1_Missense_Mutation_p.E62K	p.E121K	NM_006812	NP_006803	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		3	420	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		121			PRKCSH.		A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	c.361G>A	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939812	0.73557	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000547079;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T;T	0.63913	1.25;1.27;-0.07;1.25;1.27;0.89;1.22;1.28;1.36;1.26	5.02	4.11	0.48088	Glucosidase II beta subunit-like (1);	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	M	0.81239	2.535	0.80722	D	1	D;P;P;P;D;P;P;P	0.69078	0.994;0.666;0.714;0.796;0.997;0.83;0.498;0.947	D;B;P;P;D;P;P;P	0.79784	0.973;0.38;0.514;0.533;0.993;0.664;0.664;0.71	T	0.79981	-0.1574	10	0.46703	T	0.11	.	14.1102	0.65118	0.0:0.1523:0.8477:0.0	.	62;121;121;121;121;121;121;121	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	K	121;121;121;62;121;121;121;121;121;121	ENSP00000450010:E121K;ENSP00000318165:E121K;ENSP00000447031:E121K;ENSP00000407360:E62K;ENSP00000373798:E121K;ENSP00000413112:E121K;ENSP00000447866:E121K;ENSP00000257966:E121K;ENSP00000389632:E121K;ENSP00000373794:E121K	ENSP00000257966:E121K	E	+	1	0	OS9	56375851	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.872000	0.75536	1.064000	0.40671	0.467000	0.42956	GAA		0.433	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		37	134	0	0	0	0.009718	0	37	134				
SRGAP1	57522	broad.mit.edu	37	12	64456851	64456851	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:64456851T>C	ENST00000355086.3	+	7	1480	c.956T>C	c.(955-957)aTg>aCg	p.M319T	SRGAP1_ENST00000543397.1_Missense_Mutation_p.M279T|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.M319T	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	319	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.M319T(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGAGATTCATGGAGATGTAC	0.413																																							uc010ssp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(955-957)ATG>ACG		SLIT-ROBO Rho GTPase activating protein 1							143.0	131.0	135.0					12																	64456851		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64456851T>C	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.956T>C	12.37:g.64456851T>C	ENSP00000347198:p.Met319Thr					SRGAP1_uc001srt.2_Missense_Mutation_p.M319T|SRGAP1_uc001srv.2_Missense_Mutation_p.M279T	p.M319T	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	7	1012	+			319					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.956T>C	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355177	0.61293	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.42131	0.98;0.98;2.58	4.65	4.65	0.58169	.	0.000000	0.42294	U	0.000736	T	0.62159	0.2405	M	0.81682	2.555	0.80722	D	1	P;P;P	0.51537	0.945;0.946;0.833	B;P;P	0.58928	0.41;0.848;0.772	T	0.66152	-0.5995	9	.	.	.	.	15.1411	0.72612	0.0:0.0:0.0:1.0	.	319;279;319	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	T	319;319;279	ENSP00000347198:M319T;ENSP00000350480:M319T;ENSP00000437948:M279T	.	M	+	2	0	SRGAP1	62743118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.760000	0.85248	2.313000	0.78055	0.455000	0.32223	ATG		0.413	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			64	62	0	0	0	0.00361	0	64	62				
NUP107	57122	broad.mit.edu	37	12	69124946	69124946	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:69124946T>C	ENST00000229179.4	+	21	2123	c.1791T>C	c.(1789-1791)ccT>ccC	p.P597P	NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Silent_p.P568P	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	597					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)	p.P597P(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GTCATTTGCCTCAAGACCTAG	0.328																																							uc001suf.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1789-1791)CCT>CCC		nucleoporin 107kDa							84.0	83.0	83.0					12																	69124946		2203	4300	6503	SO:0001819	synonymous_variant	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69124946T>C	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1791T>C	12.37:g.69124946T>C						NUP107_uc001sug.2_Intron|NUP107_uc010stj.1_Silent_p.P568P	p.P597P	NM_020401	NP_065134	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		21	1906	+	Breast(13;6.25e-06)		597					B4DZ67|Q6PJE1	Silent	SNP	ENST00000229179.4	37	c.1791T>C	CCDS8985.1																																																																																				0.328	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		3	73	0	0	0	0.009096	0	3	73				
BEST3	144453	broad.mit.edu	37	12	70049505	70049505	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:70049505G>A	ENST00000330891.5	-	10	1415	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.R291W|BEST3_ENST00000488961.1_Missense_Mutation_p.R184W	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	397					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.R397W(1)|p.R184W(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CTCAGGAACCGCTTGACTCTT	0.542																																							uc001svg.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1189-1191)CGG>TGG		vitelliform macular dystrophy 2-like 3 isoform							108.0	116.0	113.0					12																	70049505		2103	4220	6323	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049505G>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1189C>T	12.37:g.70049505G>A	ENSP00000332413:p.Arg397Trp					BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.R184W|BEST3_uc010stm.1_Missense_Mutation_p.R291W	p.R397W	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1416	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		397			Cytoplasmic (Potential).		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.1189C>T	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622099	0.66787	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.98792	-5.04;-5.11;-5.14	5.63	-0.258	0.12975	.	0.133426	0.44688	D	0.000435	D	0.98934	0.9638	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98623	1.0668	10	0.87932	D	0	-21.6002	16.2074	0.82138	0.0:0.0:0.3334:0.6666	.	397;184	Q8N1M1;B5MDI8	BEST3_HUMAN;.	W	184;397;291	ENSP00000433213:R184W;ENSP00000332413:R397W;ENSP00000449548:R291W	ENSP00000332413:R397W	R	-	1	2	BEST3	68335772	0.997000	0.39634	0.985000	0.45067	0.766000	0.43426	0.156000	0.16382	-0.369000	0.08028	0.655000	0.94253	CGG		0.542	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		96	97	0	0	0	0.00361	0	96	97				
SCYL2	55681	broad.mit.edu	37	12	100676756	100676756	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:100676756C>A	ENST00000360820.2	+	2	445	c.8C>A	c.(7-9)tCc>tAc	p.S3Y	SCYL2_ENST00000550067.1_3'UTR	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	3					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)	p.S3Y(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GCCATGGAGTCCATGCTTAAT	0.353																																							uc001thn.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(7-9)TCC>TAC		SCY1-like 2 protein							67.0	63.0	64.0					12																	100676756		2203	4300	6503	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100676756C>A	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.8C>A	12.37:g.100676756C>A	ENSP00000354061:p.Ser3Tyr					SCYL2_uc009ztw.1_Intron|SCYL2_uc001thm.1_Missense_Mutation_p.S3Y	p.S3Y	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN			2	58	+			3					A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.8C>A	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686795	0.68157	.	.	ENSG00000136021	ENST00000549687;ENST00000360820	T;T	0.37235	1.71;1.21	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.24160	0.0585	N	0.08118	0	0.80722	D	1	B	0.26081	0.141	B	0.20767	0.031	T	0.10019	-1.0648	10	0.72032	D	0.01	.	19.0444	0.93013	0.0:1.0:0.0:0.0	.	3	Q6P3W7	SCYL2_HUMAN	Y	3	ENSP00000448366:S3Y;ENSP00000354061:S3Y	ENSP00000354061:S3Y	S	+	2	0	SCYL2	99200887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.551000	0.82182	2.490000	0.84030	0.591000	0.81541	TCC		0.353	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		6	65	1	0	8.12818e-05	0.001984	9.0248e-05	6	65				
ANO4	121601	broad.mit.edu	37	12	101437376	101437376	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:101437376C>A	ENST00000392977.3	+	13	1424	c.1214C>A	c.(1213-1215)cCa>cAa	p.P405Q	ANO4_ENST00000392979.3_Missense_Mutation_p.P370Q|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	405					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.P370Q(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAATACTGTCCATTCATGAGG	0.393										HNSCC(74;0.22)																													uc010svm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1213-1215)CCA>CAA		anoctamin 4							175.0	160.0	165.0					12																	101437376		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101437376C>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1214C>A	12.37:g.101437376C>A	ENSP00000376703:p.Pro405Gln	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.P370Q|ANO4_uc001thx.2_Missense_Mutation_p.P405Q	p.P405Q	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			13	1786	+			405			Cytoplasmic (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1214C>A		.	.	.	.	.	.	.	.	.	.	C	17.78	3.474277	0.63737	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.68025	-0.29;-0.3	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	L	0.57536	1.79	0.80722	D	1	P;P	0.43662	0.814;0.551	B;B	0.43623	0.425;0.23	T	0.65092	-0.6252	10	0.25751	T	0.34	.	19.3835	0.94546	0.0:1.0:0.0:0.0	.	405;370	Q32M45;Q32M45-2	ANO4_HUMAN;.	Q	370;405	ENSP00000376705:P370Q;ENSP00000376703:P405Q	ENSP00000376703:P405Q	P	+	2	0	ANO4	99961507	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	3.789000	0.55454	2.652000	0.90054	0.655000	0.94253	CCA		0.393	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		18	79	1	0	1.55795e-14	0.001882	2.22239e-14	18	79				
SLC5A8	160728	broad.mit.edu	37	12	101581208	101581208	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:101581208C>A	ENST00000536262.2	-	7	1477	c.919G>T	c.(919-921)Gac>Tac	p.D307Y		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.D307Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGATCACAGTCATGGTACCTG	0.428																																					GBM(60;420 1056 13605 22380 47675)	GBM(60;420 1056 13605 22380 47675)	uc001thz.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(919-921)GAC>TAC		solute carrier family 5 (iodide transporter),							117.0	108.0	111.0					12																	101581208		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101581208C>A	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.919G>T	12.37:g.101581208C>A	ENSP00000445340:p.Asp307Tyr						p.D307Y	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			7	1309	-			307			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.919G>T	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550461	0.65311	.	.	ENSG00000256870	ENST00000536262	D	0.87887	-2.31	5.35	5.35	0.76521	.	0.274297	0.42294	D	0.000734	D	0.93203	0.7835	M	0.89715	3.055	0.58432	D	0.999998	P	0.46064	0.872	P	0.51615	0.675	D	0.94406	0.7627	10	0.87932	D	0	.	19.0605	0.93091	0.0:1.0:0.0:0.0	.	307	Q8N695	SC5A8_HUMAN	Y	307	ENSP00000445340:D307Y	ENSP00000445340:D307Y	D	-	1	0	SLC5A8	100105339	0.995000	0.38212	0.991000	0.47740	0.580000	0.36256	3.175000	0.50855	2.496000	0.84212	0.460000	0.39030	GAC		0.428	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		32	39	1	0	2.87052e-16	0.005524	4.17213e-16	32	39				
SLC5A8	160728	broad.mit.edu	37	12	101584289	101584289	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:101584289C>G	ENST00000536262.2	-	6	1348	c.790G>C	c.(790-792)Gtg>Ctg	p.V264L		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.V264L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TATCTCTGCACCTGGGATTGG	0.393																																					GBM(60;420 1056 13605 22380 47675)	GBM(60;420 1056 13605 22380 47675)	uc001thz.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(790-792)GTG>CTG		solute carrier family 5 (iodide transporter),							151.0	144.0	147.0					12																	101584289		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101584289C>G	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.790G>C	12.37:g.101584289C>G	ENSP00000445340:p.Val264Leu						p.V264L	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			6	1180	-			264			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.790G>C	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132635	0.77662	.	.	ENSG00000256870	ENST00000536262	D	0.87650	-2.28	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.95711	0.8605	H	0.95004	3.61	0.80722	D	1	D	0.65815	0.995	D	0.73380	0.98	D	0.96085	0.9057	10	0.72032	D	0.01	.	20.1739	0.98173	0.0:1.0:0.0:0.0	.	264	Q8N695	SC5A8_HUMAN	L	264	ENSP00000445340:V264L	ENSP00000445340:V264L	V	-	1	0	SLC5A8	100108420	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	4.601000	0.61090	2.774000	0.95407	0.585000	0.79938	GTG		0.393	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		13	128	0	0	0	0.001855	0	13	128				
STAB2	55576	broad.mit.edu	37	12	104125389	104125389	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:104125389C>T	ENST00000388887.2	+	50	5463	c.5259C>T	c.(5257-5259)taC>taT	p.Y1753Y		NM_017564.9	NP_060034.9			stabilin 2									p.Y1753Y(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACAATGGCTACATCAAATTTA	0.323																																							uc001tjw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(5)	14						c.(5257-5259)TAC>TAT		stabilin 2 precursor							71.0	69.0	70.0					12																	104125389		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104125389C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5259C>T	12.37:g.104125389C>T						STAB2_uc009zug.2_RNA	p.Y1753Y	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			50	5445	+			1753			Extracellular (Potential).|FAS1 6.			Silent	SNP	ENST00000388887.2	37	c.5259C>T	CCDS31888.1																																																																																				0.323	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			32	64	0	0	0	0.005524	0	32	64				
HVCN1	84329	broad.mit.edu	37	12	111088015	111088015	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:111088015C>T	ENST00000356742.5	-	6	1467	c.714G>A	c.(712-714)ttG>ttA	p.L238L	HVCN1_ENST00000548312.1_Silent_p.L238L|HVCN1_ENST00000242607.8_Silent_p.L238L|HVCN1_ENST00000439744.2_Silent_p.L218L			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	238					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)	p.L238L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TCTTGGCGGCCAATTGTACAT	0.458																																							uc001trs.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(712-714)TTG>TTA		hydrogen voltage-gated channel 1							195.0	169.0	178.0					12																	111088015		2203	4300	6503	SO:0001819	synonymous_variant	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111088015C>T	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.714G>A	12.37:g.111088015C>T						HVCN1_uc001trq.1_Silent_p.L238L|HVCN1_uc001trt.1_Silent_p.L238L|HVCN1_uc010syd.1_Silent_p.L218L	p.L238L	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN			7	879	-			238			Cytoplasmic (Potential).|Potential.		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Silent	SNP	ENST00000356742.5	37	c.714G>A	CCDS31900.1																																																																																				0.458	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		49	63	0	0	0	0.00361	0	49	63				
MED13L	23389	broad.mit.edu	37	12	116420924	116420924	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:116420924C>A	ENST00000281928.3	-	21	5159	c.4953G>T	c.(4951-4953)gaG>gaT	p.E1651D		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1651						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.E1651D(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TAACATACCTCTCTTGTCCAT	0.498																																							uc001tvw.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(4951-4953)GAG>GAT		mediator complex subunit 13-like							78.0	75.0	76.0					12																	116420924		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116420924C>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.4953G>T	12.37:g.116420924C>A	ENSP00000281928:p.Glu1651Asp						p.E1651D	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	21	5008	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1651					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.4953G>T	CCDS9177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.39|13.39	2.224007|2.224007	0.39300|0.39300	.|.	.|.	ENSG00000123066|ENSG00000123066	ENST00000281928|ENST00000549786	T|.	0.75050|.	-0.9|.	6.17|6.17	-3.1|-3.1	0.05315|0.05315	.|.	0.607459|.	0.16827|.	N|.	0.197930|.	T|T	0.20981|0.20981	0.0505|0.0505	N|N	0.12182|0.12182	0.205|0.205	0.29437|0.29437	N|N	0.859427|0.859427	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.35699|0.35699	-0.9778|-0.9778	10|5	0.32370|.	T|.	0.25|.	.|.	7.3155|7.3155	0.26498|0.26498	0.0:0.2825:0.2595:0.458|0.0:0.2825:0.2595:0.458	.|.	1651|.	Q71F56|.	MD13L_HUMAN|.	D|I	1651|106	ENSP00000281928:E1651D|.	ENSP00000281928:E1651D|.	E|R	-|-	3|2	2|0	MED13L|MED13L	114905307|114905307	0.994000|0.994000	0.37717|0.37717	0.997000|0.997000	0.53966|0.53966	0.929000|0.929000	0.56500|0.56500	0.046000|0.046000	0.14035|0.14035	-0.128000|-0.128000	0.11641|0.11641	-0.345000|-0.345000	0.07892|0.07892	GAG|AGA		0.498	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			63	48	1	0	1.31726e-23	0.00361	2.08631e-23	63	48				
LRRC43	254050	broad.mit.edu	37	12	122669147	122669147	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:122669147G>A	ENST00000339777.4	+	2	260	c.232G>A	c.(232-234)Gag>Aag	p.E78K	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	78								p.E78K(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GAGCCCCGGAGAGGAGACGGT	0.597																																							uc009zxm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(232-234)GAG>AAG		leucine rich repeat containing 43 isoform 1							45.0	46.0	46.0					12																	122669147		1925	4126	6051	SO:0001583	missense	254050							g.chr12:122669147G>A	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.232G>A	12.37:g.122669147G>A	ENSP00000344233:p.Glu78Lys					LRRC43_uc001ubw.3_5'UTR|LRRC43_uc009zxl.1_RNA	p.E78K	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	2	257	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		78					Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.232G>A	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674075	0.88445	.	.	ENSG00000158113	ENST00000339777	T	0.57752	0.38	4.82	4.82	0.62117	.	.	.	.	.	T	0.71995	0.3406	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.75642	-0.3247	9	0.62326	D	0.03	-25.5005	17.5129	0.87765	0.0:0.0:1.0:0.0	.	78	Q8N309	LRC43_HUMAN	K	78	ENSP00000344233:E78K	ENSP00000344233:E78K	E	+	1	0	LRRC43	121235100	1.000000	0.71417	0.961000	0.40146	0.925000	0.55904	6.821000	0.75272	2.206000	0.71126	0.462000	0.41574	GAG		0.597	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		4	31	0	0	0	0.000602	0	4	31				
AACS	65985	broad.mit.edu	37	12	125618604	125618604	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:125618604C>T	ENST00000316519.6	+	15	1811	c.1605C>T	c.(1603-1605)gtC>gtT	p.V535V	AACS_ENST00000261686.6_Silent_p.V535V|AACS_ENST00000316543.10_Silent_p.V133V|AACS_ENST00000543665.1_Missense_Mutation_p.S35L|AACS_ENST00000545511.1_Missense_Mutation_p.S115L	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	535					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)	p.V535V(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GGGGCATCGTCATGCTTGGCC	0.597																																							uc001uhc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|liver(1)|central_nervous_system(1)	3						c.(1603-1605)GTC>GTT		acetoacetyl-CoA synthetase							70.0	59.0	62.0					12																	125618604		2203	4300	6503	SO:0001819	synonymous_variant	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125618604C>T	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1605C>T	12.37:g.125618604C>T						AACS_uc001uhd.2_Silent_p.V535V|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_Silent_p.V133V	p.V535V	NM_023928	NP_076417	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	15	1811	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		535					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Silent	SNP	ENST00000316519.6	37	c.1605C>T	CCDS9263.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.57|16.57	3.159714|3.159714	0.57368|0.57368	.|.	.|.	ENSG00000081760|ENSG00000081760	ENST00000535001|ENST00000545511;ENST00000543665	.|.	.|.	.|.	5.75|5.75	3.93|3.93	0.45458|0.45458	.|.	.|.	.|.	.|.	.|.	T|T	0.70307|0.70307	0.3209|0.3209	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.72603|0.72603	-0.4243|-0.4243	5|5	0.87932|0.56958	D|D	0|0.05	.|.	11.7236|11.7236	0.51696|0.51696	0.0:0.8588:0.0:0.1412|0.0:0.8588:0.0:0.1412	.|.	.|.	.|.	.|.	Y|L	249|115;35	.|.	ENSP00000441909:H249Y|ENSP00000442007:S35L	H|S	+|+	1|2	0|0	AACS|AACS	124184557|124184557	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.588000|0.588000	0.36517|0.36517	1.672000|1.672000	0.37523|0.37523	1.431000|1.431000	0.47355|0.47355	0.561000|0.561000	0.74099|0.74099	CAT|TCA		0.597	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		5	23	0	0	0	0.001168	0	5	23				
TMEM132D	121256	broad.mit.edu	37	12	129822241	129822241	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:129822241A>T	ENST00000422113.2	-	4	1563	c.1237T>A	c.(1237-1239)Ttg>Atg	p.L413M		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	413					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.L413M(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GACACTCCCAAGTCAGACGTG	0.572																																							uc009zyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1237-1239)TTG>ATG		transmembrane protein 132D precursor							165.0	143.0	151.0					12																	129822241		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129822241A>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1237T>A	12.37:g.129822241A>T	ENSP00000408581:p.Leu413Met						p.L413M	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	4	1565	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	413			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1237T>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.221338	0.39300	.	.	ENSG00000151952	ENST00000422113	T	0.22945	1.93	5.31	-6.41	0.01938	.	0.429867	0.19037	N	0.124393	T	0.25044	0.0608	M	0.63843	1.955	0.21147	N	0.99977	B	0.16166	0.016	B	0.15052	0.012	T	0.08973	-1.0696	9	.	.	.	-15.6065	21.2296	0.99949	0.1196:0.0:0.8804:0.0	.	413	Q14C87	T132D_HUMAN	M	413	ENSP00000408581:L413M	.	L	-	1	2	TMEM132D	128388194	0.995000	0.38212	0.586000	0.28679	0.643000	0.38383	0.145000	0.16157	-1.415000	0.02022	-0.262000	0.10625	TTG		0.572	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		24	257	0	0	0	0.00333	0	24	257				
TMEM132D	121256	broad.mit.edu	37	12	130185164	130185164	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:130185164G>A	ENST00000422113.2	-	2	485	c.159C>T	c.(157-159)atC>atT	p.I53I	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	53					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.I53I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCGCGTTGTTGATGTGGTAGG	0.547																																							uc009zyl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(157-159)ATC>ATT		transmembrane protein 132D precursor							100.0	74.0	83.0					12																	130185164		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130185164G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.159C>T	12.37:g.130185164G>A							p.I53I	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	487	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	53			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.159C>T	CCDS9266.1																																																																																				0.547	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		13	68	0	0	0	0.00245	0	13	68				
MTMR6	9107	broad.mit.edu	37	13	25840328	25840328	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr13:25840328T>C	ENST00000381801.5	-	4	1162	c.401A>G	c.(400-402)tAt>tGt	p.Y134C	MTMR6_ENST00000540661.1_Missense_Mutation_p.Y134C	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	134	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.Y134C(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CATCCTCTTATATTCCTCAGC	0.408																																							uc001uqf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(400-402)TAT>TGT		myotubularin related protein 6							100.0	91.0	94.0					13																	25840328		2203	4300	6503	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25840328T>C	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.401A>G	13.37:g.25840328T>C	ENSP00000371221:p.Tyr134Cys					MTMR6_uc001uqe.1_Missense_Mutation_p.Y134C	p.Y134C	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	4	720	-		Lung SC(185;0.0225)|Breast(139;0.0351)	134			Myotubularin phosphatase.		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.401A>G	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326810	0.41197	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.94000	-3.33;-3.33	5.53	5.53	0.82687	Myotubularin phosphatase domain (1);	0.108809	0.64402	D	0.000005	D	0.96972	0.9011	M	0.86651	2.83	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.77557	0.977;0.99	D	0.97644	1.0150	10	0.72032	D	0.01	.	15.6764	0.77326	0.0:0.0:0.0:1.0	.	134;134	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	C	134	ENSP00000443161:Y134C;ENSP00000371221:Y134C	ENSP00000371221:Y134C	Y	-	2	0	MTMR6	24738328	1.000000	0.71417	0.951000	0.38953	0.140000	0.21249	3.838000	0.55828	2.111000	0.64477	0.528000	0.53228	TAT		0.408	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		15	24	0	0	0	0.00245	0	15	24				
ATP8A2	51761	broad.mit.edu	37	13	26535737	26535737	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr13:26535737C>T	ENST00000381655.2	+	34	3350	c.3208C>T	c.(3208-3210)Cac>Tac	p.H1070Y	ATP8A2_ENST00000255283.8_Missense_Mutation_p.H1005Y	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1030					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.H1070Y(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GAGCTCCGCACACTTCTGGTT	0.433																																							uc001uqk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(3208-3210)CAC>TAC		ATPase, aminophospholipid transporter-like,							195.0	180.0	185.0					13																	26535737		1919	4123	6042	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26535737C>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.3208C>T	13.37:g.26535737C>T	ENSP00000371070:p.His1070Tyr					ATP8A2_uc010tdi.1_Missense_Mutation_p.H1005Y|ATP8A2_uc010tdj.1_RNA	p.H1070Y	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	34	3350	+		Breast(139;0.0201)|Lung SC(185;0.0225)	1030			Helical; (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.3208C>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606298	0.28623	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.36520	1.25;1.25	5.57	1.84	0.25277	.	0.481200	0.22262	N	0.062383	T	0.18467	0.0443	N	0.12182	0.205	0.24729	N	0.993101	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.15896	-1.0421	10	0.35671	T	0.21	.	8.2661	0.31815	0.0:0.5664:0.0:0.4336	.	1005;1030	B7Z880;Q9NTI2	.;AT8A2_HUMAN	Y	1070;1005;850	ENSP00000371070:H1070Y;ENSP00000255283:H1005Y	ENSP00000255283:H1005Y	H	+	1	0	ATP8A2	25433737	0.444000	0.25649	0.614000	0.29051	0.934000	0.57294	0.521000	0.22893	0.380000	0.24823	0.650000	0.86243	CAC		0.433	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		35	98	0	0	0	0.004878	0	35	98				
FRY	10129	broad.mit.edu	37	13	32836597	32836597	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr13:32836597T>A	ENST00000380250.3	+	53	8260	c.7764T>A	c.(7762-7764)atT>atA	p.I2588I	FRY_ENST00000542859.1_5'Flank	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2588						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.I2588I(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATCTGCAGATTTCTGAGGGTT	0.393																																							uc001utx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(7762-7764)ATT>ATA		furry homolog							85.0	82.0	83.0					13																	32836597		1865	4113	5978	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32836597T>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7764T>A	13.37:g.32836597T>A						FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Silent_p.I143I|FRY_uc001utz.2_Silent_p.I113I|FRY_uc010tdx.1_5'Flank	p.I2588I	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	53	8260	+		Lung SC(185;0.0271)	2588					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.7764T>A	CCDS41875.1																																																																																				0.393	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		29	79	0	0	0	0.002836	0	29	79				
FAM124A	220108	broad.mit.edu	37	13	51854668	51854668	+	Missense_Mutation	SNP	C	C	T	rs190701077		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr13:51854668C>T	ENST00000322475.8	+	4	1052	c.917C>T	c.(916-918)cCg>cTg	p.P306L	FAM124A_ENST00000280057.6_Missense_Mutation_p.P342L	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	306								p.P342L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		ACTCCTTTGCCGAGCACTGCT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		20256	0.001		0.0	False		,,,				2504	0.0						uc001vfg.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(916-918)CCG>CTG		hypothetical protein LOC220108		C	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	81.0	77.0	78.0		917,1025	5.1	0.0	13		78	3,8597	3.7+/-12.6	0,3,4297	yes	missense,missense	FAM124A	NM_001242312.1,NM_145019.3	98,98	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	possibly-damaging,possibly-damaging	306/547,342/583	51854668	4,13002	2203	4300	6503	SO:0001583	missense	220108							g.chr13:51854668C>T	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.917C>T	13.37:g.51854668C>T	ENSP00000324625:p.Pro306Leu					FAM124A_uc001vff.1_Missense_Mutation_p.P342L	p.P306L	NM_145019	NP_659456	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	4	1048	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	306					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	c.917C>T	CCDS55900.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.53	1.965939	0.34659	2.27E-4	3.49E-4	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.46451	0.87;0.87	5.12	5.12	0.69794	.	0.399536	0.23090	N	0.052041	T	0.38772	0.1053	L	0.53249	1.67	0.20821	N	0.999843	B;B	0.21309	0.054;0.045	B;B	0.16722	0.011;0.016	T	0.35151	-0.9800	10	0.62326	D	0.03	0.7959	11.0774	0.48040	0.0:0.9144:0.0:0.0856	.	306;342	Q86V42;Q86V42-2	F124A_HUMAN;.	L	306;342	ENSP00000324625:P306L;ENSP00000280057:P342L	ENSP00000280057:P342L	P	+	2	0	FAM124A	50752669	0.031000	0.19500	0.005000	0.12908	0.007000	0.05969	3.347000	0.52200	2.371000	0.80710	0.655000	0.94253	CCG		0.597	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		7	36	0	0	0	0.001984	0	7	36				
PCDH17	27253	broad.mit.edu	37	13	58207106	58207106	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr13:58207106G>T	ENST00000377918.3	+	1	452	c.426G>T	c.(424-426)tcG>tcT	p.S142S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	142	Cadherin 2. {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.S142S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGGACATCTCGGAGAACGCTG	0.617																																					Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(424-426)TCG>TCT		protocadherin 17 precursor							90.0	75.0	80.0					13																	58207106		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207106G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.426G>T	13.37:g.58207106G>T						PCDH17_uc010aec.1_Silent_p.S142S	p.S142S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1318	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	142			Extracellular (Potential).|Cadherin 2.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.426G>T	CCDS31986.1																																																																																				0.617	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		17	17	1	0	7.07596e-05	0.006122	7.88904e-05	17	17				
KLF12	11278	broad.mit.edu	37	13	74289627	74289627	+	Missense_Mutation	SNP	C	C	T	rs200541651		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr13:74289627C>T	ENST00000377669.2	-	6	931	c.905G>A	c.(904-906)cGc>cAc	p.R302H	KLF12_ENST00000377666.4_Missense_Mutation_p.R302H	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	302					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R302H(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		CCGTCTCTGGCGTCTTGTGCT	0.458																																							uc001vjf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(904-906)CGC>CAC		Kruppel-like factor 12							130.0	117.0	122.0					13																	74289627		2203	4300	6503	SO:0001583	missense	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74289627C>T	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.905G>A	13.37:g.74289627C>T	ENSP00000366897:p.Arg302His					KLF12_uc010aeq.2_Missense_Mutation_p.R302H	p.R302H	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	7	1127	-		Prostate(6;0.00217)|Breast(118;0.0838)	302					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	ENST00000377669.2	37	c.905G>A	CCDS9449.1	.	.	.	.	.	.	.	.	.	.	C	33	5.268126	0.95429	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.05925	3.37;3.37	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.14442	0.0349	L	0.41710	1.295	0.80722	D	1	D	0.71674	0.998	P	0.54140	0.743	T	0.00089	-1.2088	10	0.66056	D	0.02	.	19.0664	0.93113	0.0:1.0:0.0:0.0	.	302	Q9Y4X4	KLF12_HUMAN	H	302	ENSP00000366897:R302H;ENSP00000366894:R302H	ENSP00000344057:R302H	R	-	2	0	KLF12	73187628	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.758000	0.85224	2.746000	0.94184	0.655000	0.94253	CGC		0.458	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		17	89	0	0	0	0.007413	0	17	89				
COL4A1	1282	broad.mit.edu	37	13	110831280	110831280	+	Silent	SNP	C	C	A	rs144401828		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr13:110831280C>A	ENST00000375820.4	-	31	2569	c.2448G>T	c.(2446-2448)ccG>ccT	p.P816P		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	816	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.P816P(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGACAACCCCGGTGGTCCCT	0.582																																							uc001vqw.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(2446-2448)CCG>CCT		alpha 1 type IV collagen preproprotein							15.0	16.0	16.0					13																	110831280		2202	4298	6500	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110831280C>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2448G>T	13.37:g.110831280C>A						COL4A1_uc010agl.2_Intron	p.P816P	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		31	2570	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	816			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.2448G>T	CCDS9511.1																																																																																				0.582	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			5	15	1	0	2.7689e-08	0.001984	3.46353e-08	5	15				
COL4A2	1284	broad.mit.edu	37	13	111082234	111082234	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr13:111082234G>T	ENST00000360467.5	+	8	786	c.480G>T	c.(478-480)ggG>ggT	p.G160G		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	160					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.G160G(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTAATTAGGGGCCCCAAGGAC	0.433																																							uc001vqx.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(478-480)GGG>GGT		alpha 2 type IV collagen preproprotein							60.0	60.0	60.0					13																	111082234		1860	4092	5952	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111082234G>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.480G>T	13.37:g.111082234G>T							p.G160G	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		8	769	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	160					Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.480G>T	CCDS41907.1																																																																																				0.433	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		17	38	1	0	8.28177e-16	0.007413	1.19404e-15	17	38				
F10	2159	broad.mit.edu	37	13	113803629	113803629	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr13:113803629C>T	ENST00000375559.3	+	8	1303	c.1265C>T	c.(1264-1266)cCg>cTg	p.P422L	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	422	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)	p.P422L(1)		endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	AGCGGGGGCCCGCACGTCACC	0.612																																							uc001vsx.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1	GRCh37	CM042982	F10	M		c.(1264-1266)CCG>CTG		coagulation factor X preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						66.0	72.0	70.0					13																	113803629		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803629C>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1265C>T	13.37:g.113803629C>T	ENSP00000364709:p.Pro422Leu					F10_uc001vsy.2_3'UTR|F10_uc001vsz.2_3'UTR	p.P422L	NM_000504	NP_000495	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1322	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	422			Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.1265C>T	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045617	0.55110	.	.	ENSG00000126218	ENST00000375559	D	0.98684	-5.07	5.38	4.54	0.55810	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.99573	0.9846	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97467	1.0038	10	0.87932	D	0	.	14.0401	0.64669	0.0:0.9277:0.0:0.0723	.	422	P00742	FA10_HUMAN	L	422	ENSP00000364709:P422L	ENSP00000364709:P422L	P	+	2	0	F10	112851630	1.000000	0.71417	0.833000	0.33012	0.008000	0.06430	7.630000	0.83225	1.273000	0.44346	-0.136000	0.14681	CCG		0.612	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			43	85	0	0	0	0.003214	0	43	85				
OR4K5	79317	broad.mit.edu	37	14	20389623	20389623	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:20389623T>G	ENST00000315915.4	+	1	883	c.858T>G	c.(856-858)atT>atG	p.I286M		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I286M(2)		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)		ACCCCATTATTTATACACTAA	0.403																																							uc010tkw.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)|skin(1)	2						c.(856-858)ATT>ATG		olfactory receptor, family 4, subfamily K,							123.0	135.0	131.0					14																	20389623		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389623T>G	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.858T>G	14.37:g.20389623T>G	ENSP00000319511:p.Ile286Met						p.I286M	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	858	+	all_cancers(95;0.00108)		286			Helical; Name=7; (Potential).		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.858T>G	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	10.44	1.349518	0.24426	.	.	ENSG00000176281	ENST00000315915	T	0.57273	0.41	4.28	-0.614	0.11590	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000186	T	0.63022	0.2476	M	0.74546	2.27	0.31540	N	0.660065	D	0.89917	1.0	D	0.76575	0.988	T	0.62927	-0.6750	10	0.87932	D	0	.	3.7476	0.08554	0.1635:0.3316:0.0:0.5049	.	286	Q8NGD3	OR4K5_HUMAN	M	286	ENSP00000319511:I286M	ENSP00000319511:I286M	I	+	3	3	OR4K5	19459463	0.011000	0.17503	0.030000	0.17652	0.196000	0.23810	-1.595000	0.02093	-0.283000	0.09115	0.533000	0.62120	ATT		0.403	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		8	125	0	0	0	0.006214	0	8	125				
OR4K5	79317	broad.mit.edu	37	14	20389719	20389719	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:20389719G>T	ENST00000315915.4	+	1	979	c.954G>T	c.(952-954)gtG>gtT	p.V318V		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V318V(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)		CACTAGTAGTGAGAACTTCCT	0.353																																							uc010tkw.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(952-954)GTG>GTT		olfactory receptor, family 4, subfamily K,							69.0	79.0	75.0					14																	20389719		2184	4294	6478	SO:0001819	synonymous_variant	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389719G>T	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.954G>T	14.37:g.20389719G>T							p.V318V	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	954	+	all_cancers(95;0.00108)		318			Cytoplasmic (Potential).		Q6IFA7	Silent	SNP	ENST00000315915.4	37	c.954G>T	CCDS32024.1																																																																																				0.353	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		6	73	1	0	0.00116845	0.001168	0.00124843	6	73				
RNASE12	493901	broad.mit.edu	37	14	21058517	21058517	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:21058517G>C	ENST00000556526.1	-	1	465	c.366C>G	c.(364-366)caC>caG	p.H122Q	RNASE11_ENST00000553849.1_5'Flank|RNASE11_ENST00000555841.1_5'Flank|RNASE11_ENST00000398009.2_5'Flank|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000554993.1_RNA|RP11-14J7.6_ENST00000554006.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA|RNASE11_ENST00000432835.2_5'Flank|RNASE11_ENST00000398008.2_5'Flank|RNASE11_ENST00000610205.1_5'Flank|RP11-14J7.6_ENST00000554529.1_RNA|RNASE11_ENST00000555283.1_Intron	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	122						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.H122Q(1)		kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		TGGGGGAATAGTGGTACCTGC	0.453																																							uc001vxt.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(364-366)CAC>CAG		ribonuclease, RNase A family, 12 (non-active)							88.0	85.0	86.0					14																	21058517		2203	4300	6503	SO:0001583	missense	493901					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21058517G>C		CCDS32037.1	14q11.1	2012-10-05			ENSG00000258436	ENSG00000258436		"""Ribonucleases, RNase A"""	24211	protein-coding gene	gene with protein product							Standard	NM_001024822		Approved		uc001vxt.3	Q5GAN4	OTTHUMG00000170991	ENST00000556526.1:c.366C>G	14.37:g.21058517G>C	ENSP00000450580:p.His122Gln					RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_5'Flank	p.H122Q	NM_001024822	NP_001019993	Q5GAN4	RNS12_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)	1	466	-	all_cancers(95;0.00238)		122						Missense_Mutation	SNP	ENST00000556526.1	37	c.366C>G	CCDS32037.1	.	.	.	.	.	.	.	.	.	.	G	0.184	-1.059556	0.01950	.	.	ENSG00000258436;ENSG00000206171	ENST00000556526;ENST00000382999	T;T	0.71461	-0.57;-0.57	4.91	-2.96	0.05547	Ribonuclease A, domain (3);	0.796741	0.11547	N	0.553194	T	0.35098	0.0920	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.21245	-1.0251	10	0.16896	T	0.51	-21.3787	0.7753	0.01031	0.1758:0.2458:0.2377:0.3408	.	122	Q5GAN4	RNS12_HUMAN	Q	122	ENSP00000450580:H122Q;ENSP00000372460:H122Q	ENSP00000372460:H122Q	H	-	3	2	RNASE12;AL163195.1	20128357	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.681000	0.05191	-0.302000	0.08869	0.655000	0.94253	CAC		0.453	RNASE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411107.1			8	104	0	0	0	0.008291	0	8	104				
SLC7A7	9056	broad.mit.edu	37	14	23249156	23249156	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:23249156C>A	ENST00000397532.3	-	3	1129	c.604G>T	c.(604-606)Ggc>Tgc	p.G202C	SLC7A7_ENST00000397529.2_Missense_Mutation_p.G202C|SLC7A7_ENST00000554517.1_De_novo_Start_OutOfFrame|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000555702.1_Missense_Mutation_p.G202C|SLC7A7_ENST00000397528.4_Missense_Mutation_p.G202C|SLC7A7_ENST00000285850.7_Missense_Mutation_p.G202C			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	202					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)	p.G202C(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CTAACAATGCCTGCAACGATG	0.413																																							uc001wgr.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(604-606)GGC>TGC		solute carrier family 7 member 7							112.0	102.0	105.0					14																	23249156		2203	4300	6503	SO:0001583	missense	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23249156C>A	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.604G>T	14.37:g.23249156C>A	ENSP00000380666:p.Gly202Cys					SLC7A7_uc001wgs.3_Missense_Mutation_p.G202C|SLC7A7_uc001wgt.3_Missense_Mutation_p.G202C|SLC7A7_uc001wgu.3_Missense_Mutation_p.G202C|SLC7A7_uc001wgv.3_Missense_Mutation_p.G202C	p.G202C	NM_003982	NP_003973	Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	3	742	-	all_cancers(95;8.44e-05)		202			Helical; (Potential).		B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	37	c.604G>T	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790474	0.90367	.	.	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528	D;D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02;-3.02	5.43	5.43	0.79202	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97882	0.9304	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99470	1.0945	10	0.87932	D	0	.	18.0073	0.89213	0.0:1.0:0.0:0.0	.	202	Q9UM01	YLAT1_HUMAN	C	202;202;202;175;202;202	ENSP00000285850:G202C;ENSP00000451881:G202C;ENSP00000380666:G202C;ENSP00000380663:G202C;ENSP00000380662:G202C	ENSP00000285850:G202C	G	-	1	0	SLC7A7	22318996	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.468000	0.80943	2.538000	0.85594	0.655000	0.94253	GGC		0.413	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			11	111	1	0	0.00185496	0.001855	0.0019741	11	111				
AP1G2	8906	broad.mit.edu	37	14	24035553	24035553	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:24035553C>A	ENST00000308724.5	-	3	1160	c.405G>T	c.(403-405)atG>atT	p.M135I	AP1G2_ENST00000397120.3_Missense_Mutation_p.M135I|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	135					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)	p.M135I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GGTCTCGGCACATCTCAGCAG	0.622																																							uc001wkl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(403-405)ATG>ATT		adaptor-related protein complex 1, gamma 2							67.0	64.0	65.0					14																	24035553		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24035553C>A	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.405G>T	14.37:g.24035553C>A	ENSP00000312442:p.Met135Ile					AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_Missense_Mutation_p.M6I|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_RNA|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Missense_Mutation_p.M135I|AP1G2_uc010aks.2_Missense_Mutation_p.M6I|AP1G2_uc010akt.2_Missense_Mutation_p.M6I|AP1G2_uc010tnq.1_RNA	p.M135I	NM_003917	NP_003908	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	4	742	-	all_cancers(95;0.000251)		135					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.405G>T	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654349	0.88056	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000557189;ENST00000556843	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.01	5.01	0.66863	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	M	0.84326	2.69	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.76575	0.94;0.988	T	0.59521	-0.7439	10	0.62326	D	0.03	-29.1844	15.8581	0.79000	0.0:1.0:0.0:0.0	.	135;135	G3V532;O75843	.;AP1G2_HUMAN	I	135	ENSP00000312442:M135I;ENSP00000380309:M135I;ENSP00000452153:M135I;ENSP00000451504:M135I	ENSP00000312442:M135I	M	-	3	0	AP1G2	23105393	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.966000	0.76073	2.595000	0.87683	0.561000	0.74099	ATG		0.622	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		6	113	1	0	3.59834e-05	0.001168	4.03688e-05	6	113				
JPH4	84502	broad.mit.edu	37	14	24040242	24040242	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:24040242G>T	ENST00000397118.3	-	6	2600	c.1698C>A	c.(1696-1698)ccC>ccA	p.P566P	JPH4_ENST00000544177.1_Silent_p.P231P|RP11-66N24.3_ENST00000555968.1_RNA|JPH4_ENST00000356300.4_Silent_p.P566P|AP1G2_ENST00000308724.5_5'Flank	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	566					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)		p.P566P(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCATGGCGATGGGCTCAGGCT	0.682																																							uc001wkq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1696-1698)CCC>CCA		junctophilin 4							41.0	44.0	43.0					14																	24040242		2203	4300	6503	SO:0001819	synonymous_variant	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040242G>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1698C>A	14.37:g.24040242G>T						AP1G2_uc001wkl.2_5'Flank|AP1G2_uc001wkn.2_5'Flank|AP1G2_uc010tnp.1_5'Flank|AP1G2_uc010akt.2_5'Flank|JPH4_uc010tnr.1_Silent_p.P231P|JPH4_uc001wkr.2_Silent_p.P566P	p.P566P	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2616	-	all_cancers(95;0.000251)		566			Cytoplasmic (Potential).		D3DS53|Q8ND44|Q96DQ0	Silent	SNP	ENST00000397118.3	37	c.1698C>A	CCDS9603.1																																																																																				0.682	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		18	80	1	0	1.28384e-07	0.001882	1.56591e-07	18	80				
RABGGTA	5875	broad.mit.edu	37	14	24738353	24738353	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:24738353C>G	ENST00000399409.3	-	6	1131	c.648G>C	c.(646-648)caG>caC	p.Q216H	RABGGTA_ENST00000216840.6_Missense_Mutation_p.Q216H|RABGGTA_ENST00000559586.1_5'Flank|RABGGTA_ENST00000560777.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	216					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.Q216H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		AGAAGGCATTCTGCACCAGCT	0.587																																							uc001wof.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(646-648)CAG>CAC		Rab geranylgeranyltransferase alpha							82.0	91.0	88.0					14																	24738353		2032	4197	6229	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24738353C>G		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.648G>C	14.37:g.24738353C>G	ENSP00000382341:p.Gln216His					RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Missense_Mutation_p.Q216H|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	p.Q216H	NM_004581	NP_004572	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	6	1070	-			216			PFTA 5.		A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.648G>C	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139957	0.37728	.	.	ENSG00000100949	ENST00000216840;ENST00000399409;ENST00000543002	T;T	0.42513	0.97;0.97	5.16	5.16	0.70880	Protein prenyltransferase (1);	0.114922	0.64402	D	0.000010	T	0.29588	0.0738	N	0.17901	0.54	0.80722	D	1	B	0.24317	0.101	B	0.20955	0.032	T	0.06516	-1.0822	10	0.17832	T	0.49	-20.8593	17.5642	0.87914	0.0:1.0:0.0:0.0	.	216	Q92696	PGTA_HUMAN	H	216;216;179	ENSP00000216840:Q216H;ENSP00000382341:Q216H	ENSP00000216840:Q216H	Q	-	3	2	RABGGTA	23808193	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.268000	0.43338	2.692000	0.91855	0.561000	0.74099	CAG		0.587	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		4	20	0	0	0	0.000602	0	4	20				
NOVA1	4857	broad.mit.edu	37	14	26917440	26917440	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:26917440T>C	ENST00000539517.2	-	5	1566	c.1249A>G	c.(1249-1251)Aca>Gca	p.T417A	NOVA1_ENST00000465357.2_Missense_Mutation_p.T393A|NOVA1_ENST00000267422.7_Missense_Mutation_p.T295A	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	420					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T417A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GATCCATCTGTGGACTTTTCT	0.463																																							uc001wpy.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(1249-1251)ACA>GCA		neuro-oncological ventral antigen 1 isoform 1							86.0	82.0	83.0					14																	26917440		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917440T>C	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1249A>G	14.37:g.26917440T>C	ENSP00000438875:p.Thr417Ala					NOVA1_uc001wpz.2_Missense_Mutation_p.T393A|NOVA1_uc001wqa.2_Missense_Mutation_p.T295A	p.T417A	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1567	-			420					A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.1249A>G	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.712818	0.00706	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	T;T;T	0.29397	1.62;1.6;1.57	5.92	4.78	0.61160	.	0.067430	0.64402	N	0.000009	T	0.09686	0.0238	N	0.00926	-1.1	0.46356	D	0.999002	B;B;B	0.16802	0.0;0.011;0.019	B;B;B	0.21546	0.0;0.035;0.033	T	0.20571	-1.0271	10	0.02654	T	1	-2.0409	11.7088	0.51612	0.0:0.0685:0.0:0.9315	.	420;393;417	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	A	393;417;295	ENSP00000447391:T393A;ENSP00000438875:T417A;ENSP00000267422:T295A	ENSP00000267422:T295A	T	-	1	0	NOVA1	25987280	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.885000	0.56182	1.079000	0.41038	0.383000	0.25322	ACA		0.463	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		7	65	0	0	0	0.00308	0	7	65				
FSCB	84075	broad.mit.edu	37	14	44975130	44975130	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:44975130G>A	ENST00000340446.4	-	1	1352	c.1061C>T	c.(1060-1062)tCa>tTa	p.S354L	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	354	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.S354L(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTCTTCAGCTGATGGAGGCAG	0.507																																							uc001wvn.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(1060-1062)TCA>TTA		fibrous sheath CABYR binding protein							76.0	89.0	85.0					14																	44975130		2201	4300	6501	SO:0001583	missense	84075					cilium		g.chr14:44975130G>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1061C>T	14.37:g.44975130G>A	ENSP00000344579:p.Ser354Leu						p.S354L	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1370	-			354			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1061C>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	9.200	1.028352	0.19512	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.14022	2.54	4.87	0.531	0.17108	.	.	.	.	.	T	0.06735	0.0172	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.17433	0.018	T	0.43734	-0.9373	9	0.20519	T	0.43	12.1073	4.8637	0.13598	0.1734:0.0:0.4299:0.3967	.	354	Q5H9T9	FSCB_HUMAN	L	354	ENSP00000344579:S354L	ENSP00000344579:S354L	S	-	2	0	FSCB	44044880	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-1.192000	0.03052	-0.114000	0.11936	0.505000	0.49811	TCA		0.507	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		11	122	0	0	0	0.001368	0	11	122				
FRMD6	122786	broad.mit.edu	37	14	52186887	52186887	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:52186887G>T	ENST00000344768.5	+	11	1335	c.1139G>T	c.(1138-1140)cGc>cTc	p.R380L	FRMD6_ENST00000554167.1_Missense_Mutation_p.R303L|FRMD6_ENST00000553556.1_Missense_Mutation_p.R22L|FRMD6_ENST00000356218.4_Missense_Mutation_p.R372L|FRMD6_ENST00000395718.2_Missense_Mutation_p.R372L			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	380					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.R372L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AAACACAAGCGCCTGTCCCGT	0.622																																							uc001wzd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1138-1140)CGC>CTC		FERM domain containing 6							67.0	62.0	64.0					14																	52186887		2203	4300	6503	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52186887G>T	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1139G>T	14.37:g.52186887G>T	ENSP00000343899:p.Arg380Leu					FRMD6_uc001wzb.2_Missense_Mutation_p.R372L|FRMD6_uc001wzc.2_Missense_Mutation_p.R372L|FRMD6_uc001wze.2_Missense_Mutation_p.R303L|FRMD6_uc001wzf.2_Missense_Mutation_p.R73L|FRMD6_uc001wzg.2_Missense_Mutation_p.R22L	p.R380L	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN			11	1424	+	all_epithelial(31;0.0163)|Breast(41;0.089)		380					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.1139G>T	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713527	0.89112	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555197;ENST00000555703;ENST00000553556	T;T;T;T	0.80214	-1.35;-1.35;-1.13;-0.93	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.83175	0.5197	L	0.27053	0.805	0.80722	D	1	D;D;D	0.61080	0.987;0.989;0.987	P;P;P	0.58928	0.848;0.709;0.836	D	0.83896	0.0287	10	0.59425	D	0.04	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	303;380;372	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	L	372;372;380;303;110;22;22	ENSP00000348550:R372L;ENSP00000379068:R372L;ENSP00000343899:R380L;ENSP00000451977:R303L	ENSP00000343899:R380L	R	+	2	0	FRMD6	51256637	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	6.685000	0.74543	2.838000	0.97847	0.591000	0.81541	CGC		0.622	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		21	24	1	0	3.28513e-13	0.003954	4.57708e-13	21	24				
SLC8A3	6547	broad.mit.edu	37	14	70633906	70633906	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:70633906C>A	ENST00000381269.2	-	2	1987	c.1234G>T	c.(1234-1236)Ggg>Tgg	p.G412W	SLC8A3_ENST00000528359.1_Missense_Mutation_p.G412W|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G412W|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G412W|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G412W	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	412	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.G412W(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGTACAGCCCCACAGTTCTCC	0.522																																							uc001xly.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|breast(2)	7						c.(1234-1236)GGG>TGG		solute carrier family 8 (sodium/calcium							108.0	104.0	106.0					14																	70633906		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633906C>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1234G>T	14.37:g.70633906C>A	ENSP00000370669:p.Gly412Trp					SLC8A3_uc001xlw.2_Missense_Mutation_p.G412W|SLC8A3_uc001xlx.2_Missense_Mutation_p.G412W|SLC8A3_uc001xlz.2_Missense_Mutation_p.G412W|SLC8A3_uc010ara.2_RNA	p.G412W	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	1988	-			412			Calx-beta 1.|Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1234G>T	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379251	0.61735	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.83	5.83	0.93111	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.79046	0.4380	H	0.97240	3.965	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;1.0;1.0;1.0	D	0.85975	0.1479	10	0.87932	D	0	.	20.1242	0.97973	0.0:1.0:0.0:0.0	.	412;412;412;412	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	W	412	ENSP00000349392:G412W;ENSP00000370669:G412W;ENSP00000350560:G412W;ENSP00000436688:G412W;ENSP00000433531:G412W	ENSP00000349392:G412W	G	-	1	0	SLC8A3	69703659	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.744000	0.94065	0.643000	0.83706	GGG		0.522	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			19	106	1	0	1.50039e-11	0.001882	2.01738e-11	19	106				
PCNX	22990	broad.mit.edu	37	14	71524403	71524403	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:71524403G>C	ENST00000304743.2	+	26	5260	c.4814G>C	c.(4813-4815)gGt>gCt	p.G1605A	PCNX_ENST00000439984.3_Missense_Mutation_p.G1494A|PCNX_ENST00000238570.5_Intron	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1605						integral component of membrane (GO:0016021)		p.G1605A(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATAGGCAATGGTCTGGTCACT	0.438																																							uc001xmo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4813-4815)GGT>GCT		pecanex-like 1							261.0	259.0	260.0					14																	71524403		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71524403G>C	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4814G>C	14.37:g.71524403G>C	ENSP00000304192:p.Gly1605Ala					PCNX_uc010are.1_Missense_Mutation_p.G1494A|PCNX_uc010arf.1_Intron	p.G1605A	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	26	5260	+			1605					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.4814G>C	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784255	0.90282	.	.	ENSG00000100731	ENST00000304743;ENST00000439984	T;T	0.19394	2.45;2.15	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.62086	-0.6928	10	0.87932	D	0	.	19.5641	0.95386	0.0:0.0:1.0:0.0	.	1494;1605	B2RTR6;Q96RV3	.;PCX1_HUMAN	A	1605;1494	ENSP00000304192:G1605A;ENSP00000396617:G1494A	ENSP00000304192:G1605A	G	+	2	0	PCNX	70594156	1.000000	0.71417	0.962000	0.40283	0.968000	0.65278	9.375000	0.97178	2.619000	0.88677	0.591000	0.81541	GGT		0.438	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		44	310	0	0	0	0.003214	0	44	310				
ELMSAN1	91748	broad.mit.edu	37	14	74206175	74206175	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:74206175C>A	ENST00000286523.5	-	2	1319	c.537G>T	c.(535-537)gtG>gtT	p.V179V	ELMSAN1_ENST00000394071.2_Silent_p.V179V|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.V179V(1)									TCATTGGTCGCACATAGCGGT	0.617																																							uc001xot.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(535-537)GTG>GTT		hypothetical protein LOC91748							53.0	59.0	57.0					14																	74206175		2203	4300	6503	SO:0001819	synonymous_variant	91748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:74206175C>A	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.537G>T	14.37:g.74206175C>A						C14orf43_uc001xou.2_Silent_p.V179V|C14orf43_uc010tud.1_Silent_p.V179V|C14orf43_uc010arw.2_RNA	p.V179V	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)	2	1320	-			179					Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	ENST00000286523.5	37	c.537G>T	CCDS9819.1																																																																																				0.617	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		18	113	1	0	3.51602e-12	0.008871	4.81163e-12	18	113				
CEP128	145508	broad.mit.edu	37	14	81227931	81227931	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:81227931C>G	ENST00000555265.1	-	17	2778	c.2403G>C	c.(2401-2403)gaG>gaC	p.E801D	CEP128_ENST00000281129.3_Missense_Mutation_p.E801D			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	801						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.E801D(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCCTTAAGTGCTCCTCTTCAA	0.383																																							uc001xux.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2401-2403)GAG>GAC		hypothetical protein LOC145508							120.0	104.0	109.0					14																	81227931		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81227931C>G	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2403G>C	14.37:g.81227931C>G	ENSP00000451162:p.Glu801Asp					C14orf145_uc010asz.1_RNA	p.E801D	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	16	2574	-			801			Potential.		B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.2403G>C	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	9.456	1.091722	0.20471	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000554728	T;T	0.32023	1.47;1.47	5.06	-2.85	0.05734	.	0.371616	0.23245	N	0.050301	T	0.13756	0.0333	L	0.31065	0.9	0.53005	D	0.999967	B	0.27559	0.181	B	0.26864	0.074	T	0.10086	-1.0645	10	0.24483	T	0.36	.	1.23	0.01941	0.206:0.2626:0.109:0.4223	.	801	Q6ZU80	CE128_HUMAN	D	801;801;801;2	ENSP00000281129:E801D;ENSP00000451162:E801D	ENSP00000281129:E801D	E	-	3	2	CEP128	80297684	0.645000	0.27286	0.811000	0.32455	0.463000	0.32649	-0.252000	0.08806	-0.199000	0.10317	-1.082000	0.02213	GAG		0.383	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		32	74	0	0	0	0.009535	0	32	74				
RIN3	79890	broad.mit.edu	37	14	93118589	93118589	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:93118589G>T	ENST00000216487.7	+	6	1354	c.1195G>T	c.(1195-1197)Gac>Tac	p.D399Y	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	399	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.D399Y(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GTCCTTAGAAGACCAAAGTCC	0.677																																							uc001yap.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(1195-1197)GAC>TAC		Ras and Rab interactor 3							36.0	41.0	39.0					14																	93118589		2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118589G>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1195G>T	14.37:g.93118589G>T	ENSP00000216487:p.Asp399Tyr					RIN3_uc010auk.2_Missense_Mutation_p.D61Y|RIN3_uc001yaq.2_Missense_Mutation_p.D324Y|RIN3_uc001yar.1_Missense_Mutation_p.D61Y|RIN3_uc001yas.1_Missense_Mutation_p.D61Y	p.D399Y	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			6	1347	+		all_cancers(154;0.0701)	399			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.1195G>T	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756993	0.31137	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.06294	3.32	4.08	2.15	0.27550	.	0.477822	0.15720	N	0.247957	T	0.11879	0.0289	L	0.44542	1.39	0.21878	N	0.999498	D;P;P;D	0.71674	0.998;0.531;0.531;0.996	P;B;B;P	0.62560	0.904;0.216;0.216;0.804	T	0.11324	-1.0592	10	0.62326	D	0.03	-10.0201	4.3714	0.11249	0.3819:0.1652:0.4529:0.0	.	399;445;324;399	Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.;.;.;RIN3_HUMAN	Y	399;323	ENSP00000216487:D399Y	ENSP00000216487:D399Y	D	+	1	0	RIN3	92188342	0.037000	0.19845	0.128000	0.21923	0.280000	0.26924	0.454000	0.21827	0.678000	0.31325	0.313000	0.20887	GAC		0.677	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			9	46	1	0	4.68919e-08	0.008291	5.80489e-08	9	46				
AHNAK2	113146	broad.mit.edu	37	14	105420104	105420104	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:105420104T>C	ENST00000333244.5	-	7	1803	c.1684A>G	c.(1684-1686)Agg>Ggg	p.R562G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	562						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.R562G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCCTTGTCCTCTGTAGTCCT	0.557																																							uc010axc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1684-1686)AGG>GGG		AHNAK nucleoprotein 2							318.0	330.0	326.0					14																	105420104		2133	4250	6383	SO:0001583	missense	113146					nucleus		g.chr14:105420104T>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1684A>G	14.37:g.105420104T>C	ENSP00000353114:p.Arg562Gly					AHNAK2_uc001ypx.2_Missense_Mutation_p.R462G	p.R562G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1804	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	562					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.1684A>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	7.483	0.649107	0.14516	.	.	ENSG00000185567	ENST00000333244	T	0.02812	4.15	4.58	-9.16	0.00694	.	.	.	.	.	T	0.01287	0.0042	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46091	-0.9216	9	0.20519	T	0.43	.	2.3549	0.04293	0.1234:0.3886:0.1931:0.295	.	562	Q8IVF2	AHNK2_HUMAN	G	562	ENSP00000353114:R562G	ENSP00000353114:R562G	R	-	1	2	AHNAK2	104491149	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.430000	0.02434	-2.080000	0.00870	0.459000	0.35465	AGG		0.557	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		38	420	0	0	0	0.005524	0	38	420				
AHNAK2	113146	broad.mit.edu	37	14	105420649	105420649	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:105420649C>G	ENST00000333244.5	-	7	1258	c.1139G>C	c.(1138-1140)aGg>aCg	p.R380T	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	380						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.R380T(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGTTCTGCCCTCTCCTCTCT	0.632																																							uc010axc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1138-1140)AGG>ACG		AHNAK nucleoprotein 2							79.0	84.0	82.0					14																	105420649		2053	4201	6254	SO:0001583	missense	113146					nucleus		g.chr14:105420649C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1139G>C	14.37:g.105420649C>G	ENSP00000353114:p.Arg380Thr					AHNAK2_uc001ypx.2_Missense_Mutation_p.R280T	p.R380T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1259	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	380					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.1139G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	12.97	2.097880	0.37048	.	.	ENSG00000185567	ENST00000333244	T	0.03801	3.8	3.46	-5.55	0.02536	.	.	.	.	.	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	B	0.31290	0.318	B	0.26770	0.073	T	0.46938	-0.9155	9	0.14252	T	0.57	.	5.1353	0.14932	0.1457:0.3808:0.0:0.4734	.	380	Q8IVF2	AHNK2_HUMAN	T	380	ENSP00000353114:R380T	ENSP00000353114:R380T	R	-	2	0	AHNAK2	104491694	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.431000	0.06965	-1.555000	0.01697	-0.145000	0.13849	AGG		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		4	74	0	0	0	0.001984	0	4	74				
HERC2	8924	broad.mit.edu	37	15	28359782	28359782	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:28359782T>C	ENST00000261609.7	-	90	13997	c.13889A>G	c.(13888-13890)tAc>tGc	p.Y4630C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.Y4630C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGCCGCACGTACTCCGCGCG	0.527																																							uc001zbj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(13888-13890)TAC>TGC		hect domain and RLD 2							153.0	115.0	128.0					15																	28359782		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28359782T>C	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.13889A>G	15.37:g.28359782T>C	ENSP00000261609:p.Tyr4630Cys					HERC2_uc001zbi.2_Missense_Mutation_p.Y319C	p.Y4630C	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	90	13995	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4630			HECT.			Missense_Mutation	SNP	ENST00000261609.7	37	c.13889A>G	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.239463	0.79800	.	.	ENSG00000128731	ENST00000261609	T	0.65916	-0.18	5.32	5.32	0.75619	HECT (4);	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90813	0.4703	10	0.87932	D	0	.	15.2919	0.73872	0.0:0.0:0.0:1.0	.	4630;319	O95714;Q8ND39	HERC2_HUMAN;.	C	4630	ENSP00000261609:Y4630C	ENSP00000261609:Y4630C	Y	-	2	0	HERC2	26033377	1.000000	0.71417	0.980000	0.43619	0.663000	0.39108	8.033000	0.88852	2.011000	0.59026	0.533000	0.62120	TAC		0.527	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		23	41	0	0	0	0.004656	0	23	41				
TRPM1	4308	broad.mit.edu	37	15	31324994	31324994	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:31324994C>A	ENST00000256552.6	-	22	2997	c.2850G>T	c.(2848-2850)cgG>cgT	p.R950R	TRPM1_ENST00000542188.1_Silent_p.R967R|TRPM1_ENST00000397795.2_Silent_p.R928R|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.R928R(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGTAGATCACCCGGCCATAGC	0.478																																							uc001zfm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(2782-2784)CGG>CGT		transient receptor potential cation channel,							148.0	143.0	145.0					15																	31324994		1965	4162	6127	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31324994C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2850G>T	15.37:g.31324994C>A						TRPM1_uc010azy.2_Silent_p.R835R|TRPM1_uc001zfl.2_RNA	p.R928R	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	21	2912	-		all_lung(180;1.92e-11)	928			Cytoplasmic (Potential).			Silent	SNP	ENST00000256552.6	37	c.2784G>T	CCDS58346.1																																																																																				0.478	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		37	76	1	0	9.39024e-22	0.009718	1.46357e-21	37	76				
AQR	9716	broad.mit.edu	37	15	35168171	35168171	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:35168171G>T	ENST00000156471.5	-	28	3427	c.3202C>A	c.(3202-3204)Ctg>Atg	p.L1068M		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1068					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L1068M(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCTATCTCCAGAATCTGAGCA	0.353																																							uc001ziv.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(3202-3204)CTG>ATG		aquarius							94.0	92.0	93.0					15																	35168171		1828	4079	5907	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35168171G>T	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3202C>A	15.37:g.35168171G>T	ENSP00000156471:p.Leu1068Met						p.L1068M	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	28	3383	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	1068					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.3202C>A	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040561	0.75732	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.82167	-1.58	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.90896	0.7139	M	0.76433	2.335	0.53688	D	0.999976	D	0.89917	1.0	D	0.97110	1.0	D	0.91195	0.4987	10	0.51188	T	0.08	-8.221	18.355	0.90355	0.0:0.0:1.0:0.0	.	1068	O60306	AQR_HUMAN	M	1068	ENSP00000156471:L1068M	ENSP00000156471:L1068M	L	-	1	2	AQR	32955463	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.251000	0.58778	2.320000	0.78422	0.650000	0.86243	CTG		0.353	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		8	41	1	0	0.000274275	0.004482	0.000298378	8	41				
MGA	23269	broad.mit.edu	37	15	42042588	42042588	+	Silent	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:42042588A>G	ENST00000570161.1	+	16	6783	c.6783A>G	c.(6781-6783)gcA>gcG	p.A2261A	MGA_ENST00000545763.1_Silent_p.A2052A|MGA_ENST00000219905.7_Silent_p.A2261A|MGA_ENST00000566586.1_Silent_p.A2052A|MGA_ENST00000389936.4_Silent_p.A2222A			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.A2310A(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)	GGAGAGCTGCAAAAAGCAGCA	0.448																																							uc010ucy.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(6781-6783)GCA>GCG		MAX-interacting protein isoform 1							80.0	78.0	79.0					15																	42042588		1860	4105	5965	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42042588A>G	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.6783A>G	15.37:g.42042588A>G						MGA_uc010ucz.1_Silent_p.A2052A|MGA_uc010uda.1_Silent_p.A877A|MGA_uc001zoi.2_Silent_p.A475A	p.A2261A	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)	17	6964	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2222			Basic motif.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.6783A>G	CCDS55959.1																																																																																				0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		10	46	0	0	0	0.006214	0	10	46				
TMEM87A	25963	broad.mit.edu	37	15	42511790	42511790	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:42511790C>T	ENST00000389834.4	-	17	1792	c.1528G>A	c.(1528-1530)Gtt>Att	p.V510I	TMEM87A_ENST00000448392.1_Missense_Mutation_p.V449I|RP11-546B15.1_ENST00000563846.1_RNA	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	510						integral component of membrane (GO:0016021)		p.V510I(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		GCTTTGTTAACTTTACTATTT	0.333																																							uc010udd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1528-1530)GTT>ATT		transmembrane protein 87A isoform 1							174.0	149.0	158.0					15																	42511790		2196	4296	6492	SO:0001583	missense	25963					integral to membrane		g.chr15:42511790C>T	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.1528G>A	15.37:g.42511790C>T	ENSP00000374484:p.Val510Ile						p.V510I	NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	17	1687	-		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	510					Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	ENST00000389834.4	37	c.1528G>A	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	C	9.764	1.170981	0.21621	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.9	3.02	0.34903	.	0.508271	0.20785	N	0.085734	T	0.16854	0.0405	N	0.08118	0	0.26168	N	0.979903	B	0.10296	0.003	B	0.11329	0.006	T	0.14952	-1.0454	9	0.37606	T	0.19	-0.3829	5.6226	0.17465	0.1387:0.6486:0.0:0.2127	.	510	Q8NBN3	TM87A_HUMAN	I	510;449;486	.	ENSP00000374484:V510I	V	-	1	0	TMEM87A	40299082	0.553000	0.26513	0.991000	0.47740	0.482000	0.33219	0.339000	0.19875	0.404000	0.25506	-0.136000	0.14681	GTT		0.333	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		3	14	0	0	0	0.000602	0	3	14				
CASC4	113201	broad.mit.edu	37	15	44581416	44581416	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:44581416G>A	ENST00000345795.2	+	1	459	c.189G>A	c.(187-189)ctG>ctA	p.L63L	CASC4_ENST00000299957.6_Silent_p.L63L|CASC4_ENST00000429162.2_3'UTR|CASC4_ENST00000360824.3_Silent_p.L63L	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	63						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.L63L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		GCGGGCGGCTGGAAAAGCGCA	0.647																																							uc001zto.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(187-189)CTG>CTA		cancer susceptibility candidate 4 isoform a							29.0	30.0	30.0					15																	44581416		2197	4298	6495	SO:0001819	synonymous_variant	113201					integral to membrane		g.chr15:44581416G>A	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.189G>A	15.37:g.44581416G>A						CASC4_uc001ztp.2_Silent_p.L63L|CASC4_uc001ztq.2_Silent_p.L63L|CASC4_uc010bdu.1_RNA	p.L63L	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	1	488	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	63			Lumenal (Potential).|Potential.		B4DPZ6|G5E934|Q6UY45|Q96EM1	Silent	SNP	ENST00000345795.2	37	c.189G>A	CCDS10109.1																																																																																				0.647	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		10	46	0	0	0	0.008291	0	10	46				
SHF	90525	broad.mit.edu	37	15	45491056	45491056	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:45491056C>T	ENST00000290894.8	-	2	711	c.217G>A	c.(217-219)Ggg>Agg	p.G73R	RP11-519G16.2_ENST00000560034.1_RNA|CTD-2651B20.6_ENST00000563103.1_RNA|CTD-2651B20.7_ENST00000568314.1_RNA|SHF_ENST00000318390.6_Missense_Mutation_p.G130R	NM_138356.2	NP_612365			Src homology 2 domain containing F									p.G73R(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		TGTTTTGGCCCATTAGCCACG	0.587											OREG0023105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001zuy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(217-219)GGG>AGG		Src homology 2 domain containing F							121.0	121.0	121.0					15																	45491056		1972	4154	6126	SO:0001583	missense	90525							g.chr15:45491056C>T	BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"""SH2 domain containing"""	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000290894.8:c.217G>A	15.37:g.45491056C>T	ENSP00000290894:p.Gly73Arg		OREG0023105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	932		p.G73R	NM_138356	NP_612365	Q7M4L6	SHF_HUMAN		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)	2	712	-		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	73						Missense_Mutation	SNP	ENST00000290894.8	37	c.217G>A	CCDS10120.2	.	.	.	.	.	.	.	.	.	.	C	7.189	0.591110	0.13812	.	.	ENSG00000138606	ENST00000290894;ENST00000361989;ENST00000318390	T;T	0.33865	1.58;1.39	3.68	-0.999	0.10208	.	25.018900	0.00166	N	0.000000	T	0.15305	0.0369	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24225	-1.0166	10	0.87932	D	0	4.0666	2.9753	0.05935	0.1939:0.4083:0.0:0.3978	.	73	Q7M4L6	SHF_HUMAN	R	73;73;130	ENSP00000290894:G73R;ENSP00000315978:G130R	ENSP00000290894:G73R	G	-	1	0	SHF	43278348	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.137000	0.15995	-0.159000	0.11021	-0.982000	0.02568	GGG		0.587	SHF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254141.2	NM_138356		62	157	0	0	0	0.00361	0	62	157				
MYO5A	4644	broad.mit.edu	37	15	52646197	52646197	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:52646197C>T	ENST00000399231.3	-	26	3681	c.3438G>A	c.(3436-3438)aaG>aaA	p.K1146K	MYO5A_ENST00000553916.1_Silent_p.K1146K|MYO5A_ENST00000399233.2_Silent_p.K1146K|MYO5A_ENST00000358212.6_Silent_p.K1146K|MYO5A_ENST00000356338.6_Silent_p.K1146K	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1146					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.K1146K(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GAGGTACCTTCTTCTCACTTG	0.478																																							uc002aby.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(3436-3438)AAG>AAA		myosin VA isoform 1							94.0	96.0	96.0					15																	52646197		1967	4160	6127	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52646197C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3438G>A	15.37:g.52646197C>T						MYO5A_uc002abx.3_Silent_p.K1146K|MYO5A_uc010ugd.1_5'Flank|MYO5A_uc002aca.1_5'Flank|MYO5A_uc002acb.1_5'Flank|MYO5A_uc002acc.1_5'Flank	p.K1146K	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	26	3682	-			1146			Potential.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.3438G>A	CCDS42037.1																																																																																				0.478	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		11	75	0	0	0	0.001855	0	11	75				
RNF111	54778	broad.mit.edu	37	15	59323058	59323058	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:59323058A>G	ENST00000557998.1	+	2	324	c.37A>G	c.(37-39)Acc>Gcc	p.T13A	RNF111_ENST00000434298.1_Missense_Mutation_p.T13A|RNF111_ENST00000348370.4_Missense_Mutation_p.T13A|RNF111_ENST00000559209.1_Missense_Mutation_p.T13A|RNF111_ENST00000561186.1_Missense_Mutation_p.T13A	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	13					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T13A(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CGAGCTCTACACCTTAAAAGT	0.393																																					NSCLC(72;983 1365 10746 34387 47081)	NSCLC(72;983 1365 10746 34387 47081)	uc002afv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(37-39)ACC>GCC		ring finger protein 111							57.0	57.0	57.0					15																	59323058		2192	4292	6484	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59323058A>G	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.37A>G	15.37:g.59323058A>G	ENSP00000452732:p.Thr13Ala					RNF111_uc002afs.2_Missense_Mutation_p.T13A|RNF111_uc002aft.2_Missense_Mutation_p.T13A|RNF111_uc002afu.2_Missense_Mutation_p.T13A|RNF111_uc002afw.2_Missense_Mutation_p.T13A	p.T13A	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	2	316	+			13					C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.37A>G	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.146395	0.57044	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.16457	2.34;2.35	5.58	4.47	0.54385	.	0.098062	0.45126	N	0.000384	T	0.13586	0.0329	L	0.36672	1.1	0.28681	N	0.905097	B;B;B	0.32101	0.356;0.243;0.356	B;B;B	0.29785	0.107;0.05;0.107	T	0.11542	-1.0583	10	0.87932	D	0	-31.9908	9.0453	0.36343	0.9176:0.0:0.0824:0.0	.	13;13;13	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	A	13	ENSP00000288199:T13A;ENSP00000393641:T13A	ENSP00000288199:T13A	T	+	1	0	RNF111	57110350	1.000000	0.71417	0.998000	0.56505	0.834000	0.47266	3.674000	0.54598	0.966000	0.38159	0.402000	0.26972	ACC		0.393	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		6	83	0	0	0	0.001984	0	6	83				
PARP16	54956	broad.mit.edu	37	15	65559014	65559014	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:65559014G>A	ENST00000261888.6	-	3	850	c.405C>T	c.(403-405)aaC>aaT	p.N135N	PARP16_ENST00000444347.2_Intron|PARP16_ENST00000558873.1_5'UTR	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	135	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)	p.N135N(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						AAAATTTGGCGTTGGCTGGGT	0.453																																					NSCLC(50;885 1163 13509 21242 41978)	NSCLC(50;885 1163 13509 21242 41978)	uc002aoo.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(403-405)AAC>AAT		poly (ADP-ribose) polymerase family, member 16							130.0	120.0	123.0					15																	65559014		2201	4299	6500	SO:0001819	synonymous_variant	54956					integral to membrane	NAD+ ADP-ribosyltransferase activity	g.chr15:65559014G>A	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000261888.6:c.405C>T	15.37:g.65559014G>A						PARP16_uc002aop.2_Intron|PARP16_uc002aoq.2_Silent_p.N135N	p.N135N	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN			3	659	-			135			PARP catalytic.		Q6PK64|Q9NX03	Silent	SNP	ENST00000261888.6	37	c.405C>T	CCDS10204.1																																																																																				0.453	PARP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256827.2	NM_017851		23	47	0	0	0	0.004656	0	23	47				
IGDCC4	57722	broad.mit.edu	37	15	65681620	65681620	+	Splice_Site	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:65681620A>G	ENST00000352385.2	-	14	2746		c.e14+1			NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGAGCCACTCACGGTCAGGCA	0.572																																							uc002aou.1		NA																	1	Unknown(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.e14+1		immunoglobulin superfamily, DCC subclass, member							56.0	49.0	51.0					15																	65681620		2201	4299	6500	SO:0001630	splice_region_variant	57722					integral to membrane|plasma membrane		g.chr15:65681620A>G		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2536+1T>C	15.37:g.65681620A>G						IGDCC4_uc002aot.1_Splice_Site_p.R434_splice	p.R846_splice	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			14	2746	-								Q9HCE4	Splice_Site	SNP	ENST00000352385.2	37	c.2536_splice	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.373772	0.82573	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9487	0.64101	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IGDCC4	63468673	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.045000	0.93812	2.043000	0.60533	0.454000	0.30748	.		0.572	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962	Intron	5	22	0	0	0	0.004482	0	5	22				
LARP6	55323	broad.mit.edu	37	15	71124814	71124814	+	Silent	SNP	C	C	T	rs148356697		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:71124814C>T	ENST00000299213.8	-	3	1123	c.1053G>A	c.(1051-1053)gcG>gcA	p.A351A	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	351					regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A351A(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GCCGTCGGCCCGCCATAGGGG	0.597																																							uc002ass.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1051-1053)GCG>GCA		La ribonucleoprotein domain family, member 6		C		1,4397	2.1+/-5.4	0,1,2198	56.0	57.0	57.0		1053	-3.6	1.0	15	dbSNP_134	57	0,8594		0,0,4297	no	coding-synonymous	LARP6	NM_018357.2		0,1,6495	TT,TC,CC		0.0,0.0227,0.0077		351/492	71124814	1,12991	2199	4297	6496	SO:0001819	synonymous_variant	55323				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr15:71124814C>T	BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.1053G>A	15.37:g.71124814C>T							p.A351A	NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN			3	1124	-			351					Q5XKE4|Q8N3N2|Q9NUR0	Silent	SNP	ENST00000299213.8	37	c.1053G>A	CCDS32281.1																																																																																				0.597	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		13	56	0	0	0	0.004007	0	13	56				
CSPG4	1464	broad.mit.edu	37	15	75968002	75968002	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:75968002G>T	ENST00000308508.5	-	10	6950	c.6858C>A	c.(6856-6858)ctC>ctA	p.L2286L	CTD-2026K11.1_ENST00000569467.1_RNA|AC105020.1_ENST00000435356.1_5'Flank	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2286					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.L2286L(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCACAGCTGTGAGCGGGATGG	0.662																																							uc002baw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(6856-6858)CTC>CTA		chondroitin sulfate proteoglycan 4 precursor							31.0	29.0	30.0					15																	75968002		2196	4294	6490	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75968002G>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.6858C>A	15.37:g.75968002G>T							p.L2286L	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			10	6951	-			2286			Cytoplasmic (Potential).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.6858C>A	CCDS10284.1																																																																																				0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		4	28	1	0	3.59834e-05	0.001168	4.03688e-05	4	28				
CSPG4	1464	broad.mit.edu	37	15	75968734	75968734	+	Silent	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:75968734A>T	ENST00000308508.5	-	10	6218	c.6126T>A	c.(6124-6126)acT>acA	p.T2042T	CTD-2026K11.1_ENST00000569467.1_RNA|AC105020.1_ENST00000435356.1_5'Flank	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2042	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.T2042T(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAGCCCTCACAGTGACGTTCA	0.617																																							uc002baw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(6124-6126)ACT>ACA		chondroitin sulfate proteoglycan 4 precursor							66.0	53.0	57.0					15																	75968734		2197	4294	6491	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75968734A>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.6126T>A	15.37:g.75968734A>T							p.T2042T	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			10	6219	-			2042			Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.6126T>A	CCDS10284.1																																																																																				0.617	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		4	39	0	0	0	0.009096	0	4	39				
KIAA1024	23251	broad.mit.edu	37	15	79748634	79748634	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:79748634G>C	ENST00000305428.3	+	2	220	c.145G>C	c.(145-147)Gtg>Ctg	p.V49L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	49						integral component of membrane (GO:0016021)		p.V49L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ACTGAGAAGTGTGCTCTTCTA	0.458																																							uc002bew.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(145-147)GTG>CTG		hypothetical protein LOC23251							122.0	115.0	117.0					15																	79748634		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79748634G>C	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.145G>C	15.37:g.79748634G>C	ENSP00000307461:p.Val49Leu					KIAA1024_uc010unk.1_Missense_Mutation_p.V49L	p.V49L	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	220	+			49					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.145G>C	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	7.118	0.577397	0.13686	.	.	ENSG00000169330	ENST00000305428	T	0.26223	1.75	5.88	-0.486	0.12064	.	0.385194	0.28393	N	0.015517	T	0.13243	0.0321	L	0.33137	0.985	0.32474	N	0.542435	B	0.02656	0.0	B	0.04013	0.001	T	0.14671	-1.0464	9	.	.	.	.	2.993	0.05989	0.188:0.3322:0.3658:0.114	.	49	Q9UPX6	K1024_HUMAN	L	49	ENSP00000307461:V49L	.	V	+	1	0	KIAA1024	77535689	0.943000	0.32029	0.482000	0.27366	0.985000	0.73830	1.450000	0.35134	-0.346000	0.08312	-0.216000	0.12614	GTG		0.458	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		13	103	0	0	0	0.006122	0	13	103				
ALPK3	57538	broad.mit.edu	37	15	85383141	85383141	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:85383141G>T	ENST00000258888.5	+	5	1404	c.1237G>T	c.(1237-1239)Gac>Tac	p.D413Y		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	413					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D413Y(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGGGGAGGTCGACACTCTGCG	0.677																																							uc002ble.2		NA																	2	Substitution - Missense(2)		lung(2)	stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(1237-1239)GAC>TAC		alpha-kinase 3							39.0	41.0	40.0					15																	85383141		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85383141G>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.1237G>T	15.37:g.85383141G>T	ENSP00000258888:p.Asp413Tyr						p.D413Y	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	1404	+			413					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.1237G>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.694057	0.30052	.	.	ENSG00000136383	ENST00000258888	T	0.65178	-0.14	4.95	4.95	0.65309	.	0.468333	0.24007	N	0.042411	T	0.55337	0.1914	L	0.44542	1.39	0.19300	N	0.999976	P	0.45396	0.857	B	0.39152	0.292	T	0.58864	-0.7561	10	0.87932	D	0	-17.5378	15.683	0.77388	0.0:0.0:1.0:0.0	.	413	Q96L96	ALPK3_HUMAN	Y	413	ENSP00000258888:D413Y	ENSP00000258888:D413Y	D	+	1	0	ALPK3	83184145	1.000000	0.71417	0.068000	0.19968	0.060000	0.15804	7.013000	0.76373	2.273000	0.75805	0.563000	0.77884	GAC		0.677	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		7	29	1	0	0.00198382	0.001984	0.00210086	7	29				
ACAN	176	broad.mit.edu	37	15	89399982	89399982	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:89399982A>T	ENST00000561243.1	+	11	4166	c.4166A>T	c.(4165-4167)gAg>gTg	p.E1389V	ACAN_ENST00000559004.1_Missense_Mutation_p.E1389V|ACAN_ENST00000439576.2_Missense_Mutation_p.E1389V|ACAN_ENST00000352105.7_Missense_Mutation_p.E1389V			P16112	PGCA_HUMAN	aggrecan	1389	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.E1275V(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTGGAGTAGAGGACATCAGC	0.537																																							uc010upo.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(4165-4167)GAG>GTG		aggrecan isoform 2 precursor							30.0	26.0	27.0					15																	89399982		1659	3372	5031	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89399982A>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4166A>T	15.37:g.89399982A>T	ENSP00000453342:p.Glu1389Val					ACAN_uc010upp.1_Missense_Mutation_p.E1389V|ACAN_uc002bna.2_RNA	p.E1389V	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	4540	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1389					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.4166A>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	-	4.890	0.165471	0.09339	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.96365	-3.99;-3.99	3.52	-7.03	0.01584	.	.	.	.	.	D	0.96100	0.8729	M	0.80982	2.52	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.66196	0.942;0.942	D	0.87557	0.2469	9	0.21540	T	0.41	.	2.4049	0.04410	0.5196:0.094:0.1826:0.2039	.	1389;1389	E7ENV9;E7EX88	.;.	V	1389;1389;1275	ENSP00000387356:E1389V;ENSP00000341615:E1389V	ENSP00000268134:E1275V	E	+	2	0	ACAN	87200986	0.005000	0.15991	0.000000	0.03702	0.105000	0.19272	-0.413000	0.07123	-3.031000	0.00266	-0.608000	0.04076	GAG		0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		21	146	0	0	0	0.00632	0	21	146				
ABHD2	11057	broad.mit.edu	37	15	89736526	89736526	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:89736526C>G	ENST00000352732.5	+	10	1577	c.1057C>G	c.(1057-1059)Cta>Gta	p.L353V	ABHD2_ENST00000565973.1_Missense_Mutation_p.L353V|ABHD2_ENST00000355100.3_Missense_Mutation_p.L353V	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	353					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.L353V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TGAAAGTCTTCTAACCATTCC	0.428																																					Colon(11;252 417 24570 33239 41878)	Colon(11;252 417 24570 33239 41878)	uc002bnj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1057-1059)CTA>GTA		alpha/beta hydrolase domain containing protein							230.0	184.0	199.0					15																	89736526		2200	4299	6499	SO:0001583	missense	11057					integral to membrane	carboxylesterase activity	g.chr15:89736526C>G	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.1057C>G	15.37:g.89736526C>G	ENSP00000268129:p.Leu353Val					ABHD2_uc002bnk.2_Missense_Mutation_p.L353V	p.L353V	NM_007011	NP_008942	P08910	ABHD2_HUMAN			15	1974	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		353					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	c.1057C>G	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030139	0.54790	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.62498	0.02;0.02	5.33	1.9	0.25705	Alpha/beta hydrolase fold-1 (1);	0.066227	0.64402	D	0.000012	T	0.59702	0.2213	M	0.72118	2.19	0.53688	D	0.999972	B	0.32653	0.379	B	0.41174	0.349	T	0.54316	-0.8312	10	0.36615	T	0.2	3.1157	4.4593	0.11659	0.1572:0.5361:0.0:0.3067	.	353	P08910	ABHD2_HUMAN	V	353	ENSP00000268129:L353V;ENSP00000347217:L353V	ENSP00000268129:L353V	L	+	1	2	ABHD2	87537530	0.981000	0.34729	0.945000	0.38365	0.971000	0.66376	2.017000	0.40981	0.727000	0.32360	0.563000	0.77884	CTA		0.428	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			15	63	0	0	0	0.008871	0	15	63				
ANPEP	290	broad.mit.edu	37	15	90349374	90349374	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:90349374G>T	ENST00000300060.6	-	2	754	c.441C>A	c.(439-441)ccC>ccA	p.P147P		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	147	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.P147P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CAATGTCGGGGGGCTGGGAGC	0.612																																					NSCLC(30;827 977 2459 19669 26125)	NSCLC(30;827 977 2459 19669 26125)	uc002bop.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(439-441)CCC>CCA		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						80.0	72.0	75.0					15																	90349374		2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90349374G>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.441C>A	15.37:g.90349374G>T							p.P147P	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		2	733	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		147			Extracellular.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.441C>A	CCDS10356.1																																																																																				0.612	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			18	47	1	0	5.03518e-11	0.007413	6.67844e-11	18	47				
MSLN	10232	broad.mit.edu	37	16	814999	814999	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:814999A>T	ENST00000382862.3	+	7	568	c.473A>T	c.(472-474)gAg>gTg	p.E158V	MSLN_ENST00000566549.1_Missense_Mutation_p.E158V|MSLN_ENST00000545450.2_Missense_Mutation_p.E158V|MSLN_ENST00000563941.1_Missense_Mutation_p.E158V	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	158					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E158V(2)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGGGCTCCCGAGCGACAGCGG	0.701																																							uc002cjw.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(472-474)GAG>GTG		mesothelin isoform 2 preproprotein							17.0	20.0	19.0					16																	814999		2180	4284	6464	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:814999A>T	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.473A>T	16.37:g.814999A>T	ENSP00000372313:p.Glu158Val					MSLN_uc002cjt.1_Missense_Mutation_p.E158V|MSLN_uc002cju.1_Missense_Mutation_p.E158V|MSLN_uc010brd.1_Missense_Mutation_p.E157V|MSLN_uc002cjv.1_Missense_Mutation_p.E158V|MSLN_uc002cjx.1_Missense_Mutation_p.E158V|MSLN_uc002cjy.1_5'Flank	p.E158V	NM_013404	NP_037536	Q13421	MSLN_HUMAN			7	524	+		Hepatocellular(780;0.00335)	158					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.473A>T	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.360500	0.41801	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.18338	2.22;2.22	2.5	1.2	0.21068	.	0.756332	0.11787	N	0.529631	T	0.21962	0.0529	L	0.54323	1.7	0.09310	N	1	P;P;P;P	0.52170	0.939;0.951;0.573;0.939	P;P;B;P	0.51193	0.531;0.662;0.118;0.531	T	0.09885	-1.0654	10	0.52906	T	0.07	-13.6102	5.6684	0.17709	0.7597:0.0:0.0:0.2403	.	157;158;158;158	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	V	158	ENSP00000442965:E158V;ENSP00000372313:E158V	ENSP00000372313:E158V	E	+	2	0	MSLN	755000	0.000000	0.05858	0.080000	0.20451	0.018000	0.09664	-0.173000	0.09854	1.141000	0.42275	0.454000	0.30748	GAG		0.701	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			4	14	0	0	0	0.000978	0	4	14				
TPSD1	23430	broad.mit.edu	37	16	1308351	1308351	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:1308351C>T	ENST00000211076.3	+	5	851	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Silent_p.L228L|PRSS29P_ENST00000568091.1_lincRNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	235	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L235L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGGAGGGCCCCTGGTCTGCAA	0.672																																							uc002clb.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(703-705)CTG>TTG		tryptase delta 1 precursor							82.0	80.0	81.0					16																	1308351		2199	4300	6499	SO:0001819	synonymous_variant	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1308351C>T	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.703C>T	16.37:g.1308351C>T							p.L235L	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN			5	712	+		Hepatocellular(780;0.00369)	235			Peptidase S1.		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	c.703C>T	CCDS10432.1																																																																																				0.672	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			12	63	0	0	0	0.00245	0	12	63				
EME2	197342	broad.mit.edu	37	16	1826131	1826131	+	Silent	SNP	G	G	T	rs151082077		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:1826131G>T	ENST00000568449.1	+	8	1053	c.1032G>T	c.(1030-1032)ccG>ccT	p.P344P	MRPS34_ENST00000177742.3_5'Flank|EME2_ENST00000307394.7_Silent_p.P409P|MRPS34_ENST00000397375.2_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	344					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)	p.P409P(1)|p.P424P(1)		central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						TTCCTGTGCCGCCCAGTGAAG	0.701								Direct reversal of damage;Homologous recombination																															uc002cmq.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(1225-1227)CCG>CCT	Direct_reversal_of_damage|Homologous_recombination	essential meiotic endonuclease 1 homolog 2							39.0	40.0	39.0					16																	1826131		2193	4281	6474	SO:0001819	synonymous_variant	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1826131G>T	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.1032G>T	16.37:g.1826131G>T						MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Silent_p.P344P	p.P409P	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN			8	1227	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	c.1227G>T	CCDS58404.1																																																																																				0.701	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		16	79	1	0	3.32936e-07	0.006122	4.01087e-07	16	79				
PKMYT1	9088	broad.mit.edu	37	16	3024067	3024067	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:3024067C>G	ENST00000262300.8	-	7	1752	c.1244G>C	c.(1243-1245)gGc>gCc	p.G415A	PKMYT1_ENST00000574385.1_Missense_Mutation_p.G406A|PKMYT1_ENST00000573944.1_Missense_Mutation_p.G406A|PKMYT1_ENST00000440027.2_Missense_Mutation_p.G415A|PKMYT1_ENST00000574730.1_Missense_Mutation_p.G346A|PKMYT1_ENST00000431515.2_Missense_Mutation_p.G415A	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	415	Interaction with PIN1.			G -> D (in Ref. 1; AAB71843). {ECO:0000305}.	G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G415A(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGTGGTGAGCCAGGCGGGGT	0.682																																							uc002csn.2		NA																	1	Substitution - Missense(1)		lung(1)	stomach(1)	1						c.(1243-1245)GGC>GCC		protein kinase Myt1 isoform 1							22.0	25.0	24.0					16																	3024067		2193	4298	6491	SO:0001583	missense	9088				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:3024067C>G	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"""membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase"", ""protein phosphatase 1, regulatory subunit 126"""	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.1244G>C	16.37:g.3024067C>G	ENSP00000262300:p.Gly415Ala					PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Missense_Mutation_p.G415A|PKMYT1_uc002cso.2_Missense_Mutation_p.G346A|PKMYT1_uc002csp.2_Missense_Mutation_p.G406A|PKMYT1_uc002csq.2_Missense_Mutation_p.G406A|PKMYT1_uc010bsy.1_Missense_Mutation_p.G406A	p.G415A	NM_004203	NP_004194	Q99640	PMYT1_HUMAN			7	1687	-			415	G -> D (in Ref. 1; AAB71843).		Interaction with PIN1.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000262300.8	37	c.1244G>C	CCDS10486.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843854	0.32606	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	T;T;T;T	0.57273	1.93;1.93;1.93;0.41	5.52	4.57	0.56435	.	0.635762	0.17064	N	0.188454	T	0.37544	0.1007	L	0.27053	0.805	0.31651	N	0.646819	B;B;B;B	0.33940	0.088;0.147;0.147;0.433	B;B;B;B	0.33454	0.055;0.055;0.055;0.164	T	0.39165	-0.9627	10	0.16896	T	0.51	-14.281	11.8015	0.52130	0.0:0.9153:0.0:0.0847	.	406;346;415;415	A6NHV6;B4DXD4;Q99640;F8W164	.;.;PMYT1_HUMAN;.	A	415;415;415;415;406	ENSP00000392855:G415A;ENSP00000262300:G415A;ENSP00000397739:G415A;ENSP00000371675:G406A	ENSP00000262300:G415A	G	-	2	0	PKMYT1	2964068	0.913000	0.31002	0.833000	0.33012	0.772000	0.43724	1.726000	0.38085	1.327000	0.45338	0.655000	0.94253	GGC		0.682	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	NM_004203		3	14	0	0	0	0.009096	0	3	14				
PKMYT1	9088	broad.mit.edu	37	16	3025738	3025738	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:3025738C>A	ENST00000262300.8	-	4	962	c.454G>T	c.(454-456)Gcc>Tcc	p.A152S	PKMYT1_ENST00000574385.1_Missense_Mutation_p.A143S|PKMYT1_ENST00000573944.1_Missense_Mutation_p.A143S|PKMYT1_ENST00000440027.2_Missense_Mutation_p.A152S|PKMYT1_ENST00000574730.1_Missense_Mutation_p.A83S|PKMYT1_ENST00000431515.2_Missense_Mutation_p.A152S	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	152	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A152S(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AACTTGCGGGCCCGGTCCTTG	0.677																																							uc002csn.2		NA																	1	Substitution - Missense(1)		lung(1)	stomach(1)	1						c.(454-456)GCC>TCC		protein kinase Myt1 isoform 1							19.0	21.0	20.0					16																	3025738		2167	4238	6405	SO:0001583	missense	9088				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:3025738C>A	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"""membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase"", ""protein phosphatase 1, regulatory subunit 126"""	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.454G>T	16.37:g.3025738C>A	ENSP00000262300:p.Ala152Ser					PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Missense_Mutation_p.A152S|PKMYT1_uc002cso.2_Missense_Mutation_p.A83S|PKMYT1_uc002csp.2_Missense_Mutation_p.A143S|PKMYT1_uc002csq.2_Missense_Mutation_p.A143S|PKMYT1_uc010bsy.1_Missense_Mutation_p.A143S	p.A152S	NM_004203	NP_004194	Q99640	PMYT1_HUMAN			4	897	-			152			Protein kinase.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000262300.8	37	c.454G>T	CCDS10486.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348476	0.24426	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.8	3.84	0.44239	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.438423	0.26753	N	0.022670	T	0.46151	0.1378	N	0.25825	0.765	0.37547	D	0.918528	B;B;B;B	0.09022	0.002;0.0;0.0;0.002	B;B;B;B	0.22386	0.039;0.024;0.014;0.02	T	0.36016	-0.9765	10	0.19147	T	0.46	-14.2985	9.8928	0.41300	0.0:0.8324:0.0:0.1676	.	143;83;152;152	A6NHV6;B4DXD4;Q99640;F8W164	.;.;PMYT1_HUMAN;.	S	152;152;152;152;143	ENSP00000392855:A152S;ENSP00000262300:A152S;ENSP00000397739:A152S;ENSP00000371675:A143S	ENSP00000262300:A152S	A	-	1	0	PKMYT1	2965739	0.128000	0.22383	0.999000	0.59377	0.797000	0.45037	0.447000	0.21710	0.778000	0.33520	0.655000	0.94253	GCC		0.677	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	NM_004203		8	25	1	0	0.000157383	0.00308	0.000173315	8	25				
TMEM186	25880	broad.mit.edu	37	16	8889820	8889820	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:8889820T>A	ENST00000333050.6	-	2	664	c.631A>T	c.(631-633)Atg>Ttg	p.M211L	PMM2_ENST00000539622.1_5'Flank|PMM2_ENST00000566983.1_Intron|PMM2_ENST00000268261.4_5'Flank|PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000569958.1_5'Flank|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	211						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.M211L(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						CACTTGAGCATCTGATGTACC	0.552																																							uc002cze.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(631-633)ATG>TTG		transmembrane protein 186							151.0	136.0	141.0					16																	8889820		2197	4300	6497	SO:0001583	missense	25880					integral to membrane|mitochondrion		g.chr16:8889820T>A	BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 51"""	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.631A>T	16.37:g.8889820T>A	ENSP00000331640:p.Met211Leu					PMM2_uc002czf.3_5'Flank|PMM2_uc010uyf.1_5'Flank|PMM2_uc010uyg.1_5'Flank|PMM2_uc010uyh.1_5'Flank|PMM2_uc010buj.2_5'Flank|PMM2_uc010uyi.1_5'Flank|PMM2_uc010uye.1_5'Flank	p.M211L	NM_015421	NP_056236	Q96B77	TM186_HUMAN			2	665	-			211					B2RAY0|Q9Y4T4	Missense_Mutation	SNP	ENST00000333050.6	37	c.631A>T	CCDS10535.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.897147	0.33535	.	.	ENSG00000184857	ENST00000333050	.	.	.	4.56	-9.13	0.00704	.	.	.	.	.	T	0.15262	0.0368	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.16453	-1.0402	8	0.25751	T	0.34	-7.3275	1.8277	0.03124	0.4803:0.2455:0.1115:0.1627	.	211	Q96B77	TM186_HUMAN	L	211	.	ENSP00000331640:M211L	M	-	1	0	TMEM186	8797321	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.872000	0.00720	-1.571000	0.01663	-0.250000	0.11733	ATG		0.552	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421		67	125	0	0	0	0.00361	0	67	125				
NPIPA1	9284	broad.mit.edu	37	16	15023226	15023226	+	3'UTR	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:15023226G>A	ENST00000472413.1	+	0	2005							Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1						mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											CTGCCCTCACGCCCATCCTCA	0.701																																							uc010uzk.1		NA																	0					NA						c.(793-795)ACG>ACA		SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1;																																				SO:0001624	3_prime_UTR_variant	0							g.chr16:15023226G>A	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"""nuclear pore complex interacting protein"""	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000472413.1:c.*2002G>A	16.37:g.15023226G>A						NPIP_uc002dcx.3_RNA	p.T265T							6	1071	+								O15102	Silent	SNP	ENST00000472413.1	37	c.795G>A																																																																																					0.701	NPIPA1-002	KNOWN	basic|readthrough_transcript	processed_transcript	protein_coding	OTTHUMT00000207327.1	NM_006985		4	121	0	0	0	0.009096	0	4	121				
RRN3	54700	broad.mit.edu	37	16	15165037	15165037	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:15165037C>A	ENST00000198767.6	-	13	1283	c.1200G>T	c.(1198-1200)agG>agT	p.R400S	RRN3_ENST00000563559.1_Missense_Mutation_p.R400S|RRN3_ENST00000429751.2_Missense_Mutation_p.R370S|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000540462.1_Missense_Mutation_p.R218S|RRN3_ENST00000327307.7_Missense_Mutation_p.R367S	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	400					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R400S(1)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CAGCAGCCTGCCTGATGATGG	0.398																																							uc002dde.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1198-1200)AGG>AGT		RRN3 RNA polymerase I transcription factor							68.0	77.0	74.0					16																	15165037		2195	4299	6494	SO:0001583	missense	54700				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm		g.chr16:15165037C>A	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.1200G>T	16.37:g.15165037C>A	ENSP00000198767:p.Arg400Ser					PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Missense_Mutation_p.R268S|RRN3_uc010uzq.1_Missense_Mutation_p.R370S	p.R400S	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN			13	1268	-			400					A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	37	c.1200G>T	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	.	19.53	3.844907	0.71603	.	.	ENSG00000085721	ENST00000198767;ENST00000429751;ENST00000327307;ENST00000540462	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.4	4.44	0.53790	.	0.000000	0.85682	U	0.000000	T	0.77485	0.4137	M	0.90759	3.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.80498	-0.1356	10	0.87932	D	0	.	9.3607	0.38195	0.0:0.8416:0.0:0.1584	.	370;301;400	F5H148;B4DZL9;Q9NYV6	.;.;RRN3_HUMAN	S	400;370;367;218	ENSP00000198767:R400S;ENSP00000402027:R370S;ENSP00000318484:R367S;ENSP00000437963:R218S	ENSP00000198767:R400S	R	-	3	2	RRN3	15072538	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.434000	0.21494	2.681000	0.91329	0.579000	0.79373	AGG		0.398	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427		29	239	1	0	1.88708e-17	0.008361	2.79943e-17	29	239				
KIAA0430	9665	broad.mit.edu	37	16	15703455	15703455	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:15703455G>A	ENST00000396368.3	-	20	4085	c.3879C>T	c.(3877-3879)ggC>ggT	p.G1293G	KIAA0430_ENST00000548025.1_Silent_p.G1290G|KIAA0430_ENST00000540441.2_Silent_p.G1128G|KIAA0430_ENST00000551742.1_Silent_p.G1293G|CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000344181.3_Silent_p.G895G|KIAA0430_ENST00000602337.1_Silent_p.G1290G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1293	HTH OST-type 5. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G1293G(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGCACTGCCGGCCAAAGTGGT	0.403																																							uc002ddr.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(3877-3879)GGC>GGT		limkain b1							80.0	77.0	78.0					16																	15703455		1878	4116	5994	SO:0001819	synonymous_variant	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15703455G>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3879C>T	16.37:g.15703455G>A						KIAA0430_uc002ddq.2_Silent_p.G1127G|KIAA0430_uc010uzv.1_Silent_p.G1289G|KIAA0430_uc010uzw.1_Silent_p.G1292G	p.G1293G	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			20	4072	-			1292					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	c.3879C>T	CCDS10562.2																																																																																				0.403	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		4	147	0	0	0	0.001168	0	4	147				
TMC7	79905	broad.mit.edu	37	16	19070736	19070736	+	Splice_Site	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:19070736A>T	ENST00000304381.5	+	15	2157		c.e15-1		TMC7_ENST00000421369.3_Splice_Site|TMC7_ENST00000569532.1_Splice_Site	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7						ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.?(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTTGTGTTGCAGCCTCATCAT	0.458																																							uc002dfq.2		NA																	1	Unknown(1)		lung(1)	skin(2)|ovary(1)	3						c.e15-2		transmembrane channel-like 7 isoform a							198.0	174.0	182.0					16																	19070736		2197	4300	6497	SO:0001630	splice_region_variant	79905					integral to membrane		g.chr16:19070736A>T	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.2028-1A>T	16.37:g.19070736A>T						TMC7_uc002dfp.2_Splice_Site_p.C676_splice|TMC7_uc010vap.1_Splice_Site_p.C566_splice	p.C676_splice	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN			15	2158	+								E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Splice_Site	SNP	ENST00000304381.5	37	c.2028_splice	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	A	19.96	3.923800	0.73213	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0074	0.64473	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMC7	18978237	1.000000	0.71417	0.977000	0.42913	0.795000	0.44927	6.288000	0.72679	2.130000	0.65690	0.533000	0.62120	.		0.458	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847	Intron	39	147	0	0	0	0.00874	0	39	147				
GPR139	124274	broad.mit.edu	37	16	20043477	20043477	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:20043477G>T	ENST00000570682.1	-	2	942	c.642C>A	c.(640-642)agC>agA	p.S214R		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	214					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)	p.S214R(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GACGAAAATTGCTCTTCCTCC	0.522																																							uc002dgu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(640-642)AGC>AGA		G protein-coupled receptor 139							86.0	85.0	86.0					16																	20043477		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043477G>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.642C>A	16.37:g.20043477G>T	ENSP00000458791:p.Ser214Arg					GPR139_uc010vaw.1_Missense_Mutation_p.S121R	p.S214R	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			2	804	-			214			Cytoplasmic (Potential).		A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.642C>A	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499930	0.26861	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.73	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.044381	0.85682	D	0.000000	T	0.41994	0.1183	N	0.17474	0.49	0.53005	D	0.999962	B	0.21452	0.056	B	0.24394	0.053	T	0.21793	-1.0235	9	0.24483	T	0.36	-49.5831	14.2069	0.65739	0.0725:0.0:0.9275:0.0	.	214	Q6DWJ6	GP139_HUMAN	R	214	.	ENSP00000370779:S214R	S	-	3	2	GPR139	19950978	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.726000	0.54977	1.398000	0.46701	0.655000	0.94253	AGC		0.522	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		10	94	1	0	0.000151284	0.001855	0.000167111	10	94				
DNAH3	55567	broad.mit.edu	37	16	21053462	21053462	+	Missense_Mutation	SNP	G	G	C	rs376545140		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:21053462G>C	ENST00000261383.3	-	32	4524	c.4525C>G	c.(4525-4527)Cta>Gta	p.L1509V	DNAH3_ENST00000415178.1_Missense_Mutation_p.L1509V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1509	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.L1509V(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AATGTCTTTAGCTTCCGAATG	0.537																																							uc010vbe.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(4525-4527)CTA>GTA		dynein, axonemal, heavy chain 3							175.0	142.0	153.0					16																	21053462		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21053462G>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4525C>G	16.37:g.21053462G>C	ENSP00000261383:p.Leu1509Val						p.L1509V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	32	4525	-			1509			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4525C>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	6.961	0.547197	0.13312	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.09350	2.99;2.99	4.82	1.51	0.23008	ATPase, AAA+ type, core (1);	0.492103	0.17426	N	0.174644	T	0.05135	0.0137	N	0.12663	0.25	0.37237	D	0.905928	B	0.19200	0.034	B	0.22601	0.04	T	0.34254	-0.9836	10	0.27785	T	0.31	.	4.763	0.13116	0.074:0.2241:0.4904:0.2115	.	1509	Q8TD57	DYH3_HUMAN	V	1509	ENSP00000261383:L1509V;ENSP00000394245:L1509V	ENSP00000261383:L1509V	L	-	1	2	DNAH3	20960963	0.993000	0.37304	0.995000	0.50966	0.963000	0.63663	1.965000	0.40471	0.718000	0.32166	0.591000	0.81541	CTA		0.537	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		61	110	0	0	0	0.00361	0	61	110				
PLK1	5347	broad.mit.edu	37	16	23695312	23695312	+	Missense_Mutation	SNP	G	G	A	rs146806568		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:23695312G>A	ENST00000300093.4	+	5	1049	c.938G>A	c.(937-939)cGt>cAt	p.R313H		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	313					activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.R313H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		ATCCCTGCCCGTCTCCCCATC	0.542																																					Colon(12;240 564 27038 33155)	Colon(12;240 564 27038 33155)	uc002dlz.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(937-939)CGT>CAT		polo-like kinase 1		G	HIS/ARG	1,4393	2.1+/-5.4	0,1,2196	172.0	175.0	174.0		938	4.5	0.2	16	dbSNP_134	174	0,8600		0,0,4300	no	missense	PLK1	NM_005030.3	29	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	possibly-damaging	313/604	23695312	1,12993	2197	4300	6497	SO:0001583	missense	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23695312G>A		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.938G>A	16.37:g.23695312G>A	ENSP00000300093:p.Arg313His						p.R313H	NM_005030	NP_005021	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	5	991	+			313					Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.938G>A	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096932	0.56075	2.28E-4	0.0	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.24723	1.84	5.5	4.54	0.55810	Protein kinase-like domain (1);	0.050767	0.85682	D	0.000000	T	0.32912	0.0845	M	0.82323	2.585	0.58432	D	0.999999	B	0.22541	0.071	B	0.15484	0.013	T	0.17289	-1.0374	10	0.49607	T	0.09	-11.836	12.2955	0.54844	0.0831:0.0:0.9169:0.0	.	313	P53350	PLK1_HUMAN	H	313;216	ENSP00000300093:R313H	ENSP00000300093:R313H	R	+	2	0	PLK1	23602813	1.000000	0.71417	0.243000	0.24186	0.995000	0.86356	7.243000	0.78219	1.441000	0.47550	0.655000	0.94253	CGT		0.542	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		43	407	0	0	0	0.002522	0	43	407				
KIAA0556	23247	broad.mit.edu	37	16	27786399	27786399	+	Silent	SNP	G	G	T	rs146629703		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:27786399G>T	ENST00000261588.4	+	24	4462	c.4443G>T	c.(4441-4443)ccG>ccT	p.P1481P		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1481						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P1481P(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCATCCTGCCGGGCCTGGTGG	0.662																																							uc002dow.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(4441-4443)CCG>CCT		hypothetical protein LOC23247							38.0	37.0	37.0					16																	27786399		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27786399G>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4443G>T	16.37:g.27786399G>T							p.P1481P	NM_015202	NP_056017	O60303	K0556_HUMAN			24	4467	+			1481					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.4443G>T	CCDS32415.1																																																																																				0.662	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		5	53	1	0	0.00307968	0.00308	0.00324859	5	53				
CLN3	1201	broad.mit.edu	37	16	28498850	28498850	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:28498850G>A	ENST00000569430.1	-	8	1206	c.387C>T	c.(385-387)ctC>ctT	p.L129L	CLN3_ENST00000567963.1_Silent_p.L129L|CLN3_ENST00000357806.7_Missense_Mutation_p.R103C|CLN3_ENST00000565316.1_Silent_p.L129L|CLN3_ENST00000360019.2_Silent_p.L129L|CLN3_ENST00000535392.1_Silent_p.L51L|CLN3_ENST00000354630.5_Silent_p.L129L|CLN3_ENST00000568224.1_Silent_p.L51L|CLN3_ENST00000355477.5_Silent_p.L129L|CLN3_ENST00000333496.9_Silent_p.L105L|CLN3_ENST00000359984.7_Silent_p.L129L|CLN3_ENST00000395653.4_Silent_p.L29L|CLN3_ENST00000357857.9_Silent_p.L75L|CLN3_ENST00000357076.5_Silent_p.L129L			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	129					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)	p.L129L(1)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TCCCACTGACGAGAACCCGGG	0.587																																							uc002dpo.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(385-387)CTC>CTT		ceroid-lipofuscinosis, neuronal 3							83.0	65.0	71.0					16																	28498850		2197	4300	6497	SO:0001819	synonymous_variant	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28498850G>A	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.387C>T	16.37:g.28498850G>A						uc010vct.1_Intron|CLN3_uc002dpl.2_Silent_p.L51L|CLN3_uc010vcu.1_Silent_p.L29L|CLN3_uc002dpn.2_Missense_Mutation_p.R103C|CLN3_uc002dpm.2_Silent_p.L75L|CLN3_uc010vcv.1_Silent_p.L105L|CLN3_uc010byd.2_Silent_p.L129L|CLN3_uc002dpp.2_Silent_p.L129L|CLN3_uc002dpt.1_Silent_p.L29L|CLN3_uc002dpq.1_Silent_p.L129L|CLN3_uc010bye.1_Silent_p.L129L|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.R75C|CLN3_uc002dpu.1_Silent_p.L75L|CLN3_uc002dpw.1_Missense_Mutation_p.R49C|CLN3_uc010vcw.1_Silent_p.L75L|CLN3_uc002dqa.2_Silent_p.L180L|CLN3_uc010vcx.1_Silent_p.L29L|CLN3_uc002dpx.1_Missense_Mutation_p.R79C|CLN3_uc002dpy.1_Missense_Mutation_p.R46C|CLN3_uc002dpz.1_RNA	p.L129L	NM_000086	NP_000077	Q13286	CLN3_HUMAN			6	710	-			129			Helical; (Potential).		B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Silent	SNP	ENST00000569430.1	37	c.387C>T	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	G	1.950	-0.441571	0.04604	.	.	ENSG00000188603	ENST00000333496;ENST00000357806	D	0.94280	-3.39	5.53	-5.11	0.02901	.	.	.	.	.	D	0.87593	0.6216	.	.	.	0.24630	N	0.993621	B;B;B	0.13145	0.003;0.007;0.002	B;B;B	0.08055	0.001;0.003;0.0	T	0.73780	-0.3875	8	0.72032	D	0.01	-13.9848	8.971	0.35905	0.48:0.096:0.424:0.0	.	49;79;103	O95093;O95090;O95089	.;.;.	C	79;103	ENSP00000350457:R103C	ENSP00000329171:R79C	R	-	1	0	CLN3	28406351	0.000000	0.05858	0.118000	0.21660	0.384000	0.30261	-0.946000	0.03905	-1.320000	0.02283	-0.810000	0.03169	CGT		0.587	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			19	58	0	0	0	0.001882	0	19	58				
IL27	246778	broad.mit.edu	37	16	28513325	28513325	+	Missense_Mutation	SNP	C	C	T	rs149151528		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:28513325C>T	ENST00000356897.1	-	4	456	c.434G>A	c.(433-435)cGc>cAc	p.R145H		NM_145659.3	NP_663634.2	Q8TAD2	IL17D_HUMAN	interleukin 27	100					inflammatory response (GO:0006954)	extracellular space (GO:0005615)		p.R145H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						CTGCAGATCGCGGAGGTCCAG	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		19678	0.0		0.001	False		,,,				2504	0.0						uc002dqc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(433-435)CGC>CAC		interleukin 27 precursor							89.0	92.0	91.0					16																	28513325		2197	4300	6497	SO:0001583	missense	246778				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	g.chr16:28513325C>T	AY099296	CCDS10633.1	16p11	2011-07-21	2003-12-17	2003-12-19	ENSG00000197272	ENSG00000197272		"""Interleukins and interleukin receptors"""	19157	protein-coding gene	gene with protein product		608273	"""interleukin 30"""	IL30		12121660	Standard	NM_145659		Approved	IL-27, p28, IL27p28, IL-27A, IL27A, MGC71873	uc002dqc.3	Q8NEV9	OTTHUMG00000097023	ENST00000356897.1:c.434G>A	16.37:g.28513325C>T	ENSP00000349365:p.Arg145His					uc010vct.1_Intron	p.R145H	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN			4	457	-			145					B1AM69	Missense_Mutation	SNP	ENST00000356897.1	37	c.434G>A	CCDS10633.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.57	2.276071	0.40294	.	.	ENSG00000197272	ENST00000356897	T	0.37584	1.19	4.04	4.04	0.47022	.	0.000000	0.32533	U	0.005980	T	0.27900	0.0687	L	0.52573	1.65	0.27685	N	0.94631	P	0.44195	0.828	B	0.32289	0.143	T	0.37842	-0.9688	10	0.87932	D	0	-9.9597	11.7477	0.51830	0.0:1.0:0.0:0.0	.	145	Q8NEV9	IL27A_HUMAN	H	145	ENSP00000349365:R145H	ENSP00000349365:R145H	R	-	2	0	IL27	28420826	0.990000	0.36364	0.998000	0.56505	0.533000	0.34776	3.623000	0.54224	1.811000	0.52892	0.281000	0.19383	CGC		0.657	IL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214114.1	NM_145659		15	162	0	0	0	0.00499	0	15	162				
SEPT1	1731	broad.mit.edu	37	16	30392730	30392730	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:30392730G>C	ENST00000571393.1	-	6	556	c.370C>G	c.(370-372)Ctg>Gtg	p.L124V	SEPT1_ENST00000605106.1_Missense_Mutation_p.L129V|SEPT1_ENST00000570039.1_5'Flank|SEPT1_ENST00000321367.3_Missense_Mutation_p.L171V			Q8WYJ6	SEPT1_HUMAN	septin 1	124	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.L124V(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TTCCGGTTCAGGCCACTCTCA	0.592																																							uc002dxy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(370-372)CTG>GTG		septin 1							103.0	97.0	99.0					16																	30392730		2197	4300	6497	SO:0001583	missense	1731				cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	g.chr16:30392730G>C	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.370C>G	16.37:g.30392730G>C	ENSP00000460441:p.Leu124Val					SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_5'UTR|SEPT1_uc010veq.1_Missense_Mutation_p.L171V	p.L124V	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	Colorectal(24;0.193)		6	557	-			124					B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.370C>G		.	.	.	.	.	.	.	.	.	.	G	1.293	-0.606947	0.03717	.	.	ENSG00000180096	ENST00000321367	.	.	.	5.65	-0.733	0.11144	.	0.136600	0.33457	N	0.004886	T	0.31670	0.0804	N	0.05330	-0.07	0.42485	D	0.992871	B;B	0.25850	0.028;0.136	B;B	0.37888	0.042;0.26	T	0.04178	-1.0971	9	0.39692	T	0.17	.	6.729	0.23373	0.3845:0.1172:0.4983:0.0	.	171;124	B4E0I4;Q8WYJ6	.;SEPT1_HUMAN	V	124	.	ENSP00000324511:L124V	L	-	1	2	SEPT1	30300231	1.000000	0.71417	0.953000	0.39169	0.092000	0.18411	2.927000	0.48900	-0.261000	0.09405	-0.229000	0.12294	CTG		0.592	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		29	169	0	0	0	0.00632	0	29	169				
ZNF747	65988	broad.mit.edu	37	16	30544384	30544384	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:30544384C>G	ENST00000252799.3	-	2	1239	c.572G>C	c.(571-573)gGc>gCc	p.G191A	ZNF747_ENST00000535210.1_Silent_p.G143G|AC002310.12_ENST00000457283.3_RNA|ZNF747_ENST00000395094.3_Missense_Mutation_p.G190A|ZNF747_ENST00000568028.1_Silent_p.G143G|ZNF747_ENST00000569360.1_Silent_p.G143G|AC002310.12_ENST00000569752.1_RNA	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	191					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.G191A(1)		kidney(1)|lung(3)|prostate(1)	5						GAGCCTTCAGCCCAGGAGACC	0.647																																							uc002dyn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(571-573)GGC>GCC		zinc finger protein 747							44.0	51.0	49.0					16																	30544384		2197	4300	6497	SO:0001583	missense	65988				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:30544384C>G	BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.572G>C	16.37:g.30544384C>G	ENSP00000252799:p.Gly191Ala					ZNF768_uc010vex.1_5'UTR|ZNF747_uc002dyo.1_Missense_Mutation_p.G190A|ZNF747_uc010vey.1_Missense_Mutation_p.G190A|uc002dyp.1_5'Flank	p.G191A	NM_023931	NP_076420	Q9BV97	ZN747_HUMAN			2	766	-			191					A8K827|B7WNU3|Q59FB4|Q96NW0	Missense_Mutation	SNP	ENST00000252799.3	37	c.572G>C	CCDS10682.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681450	0.47991	.	.	ENSG00000169955	ENST00000252799;ENST00000395094	T;T	0.03358	4.01;3.96	2.73	0.696	0.18075	.	.	.	.	.	T	0.04048	0.0113	N	0.14661	0.345	0.18873	N	0.999985	P;P	0.52061	0.95;0.916	P;P	0.51385	0.668;0.467	T	0.45775	-0.9238	9	0.87932	D	0	.	6.3051	0.21135	0.0:0.7122:0.0:0.2878	.	190;191	Q9BV97-2;Q9BV97	.;ZN747_HUMAN	A	191;190	ENSP00000252799:G191A;ENSP00000378528:G190A	ENSP00000252799:G191A	G	-	2	0	ZNF747	30451885	0.000000	0.05858	0.040000	0.18447	0.158000	0.22134	0.007000	0.13174	0.487000	0.27698	0.313000	0.20887	GGC		0.647	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255532.2	NM_023931		13	105	0	0	0	0.004007	0	13	105				
ZNF629	23361	broad.mit.edu	37	16	30794693	30794693	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:30794693C>T	ENST00000262525.4	-	3	1163	c.956G>A	c.(955-957)cGc>cAc	p.R319H		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	319					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.R319H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CTCGGTGCAGCGGTATGGCTT	0.637																																							uc002dzs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(955-957)CGC>CAC		zinc finger protein 629							61.0	70.0	67.0					16																	30794693		2195	4299	6494	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794693C>T	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.956G>A	16.37:g.30794693C>T	ENSP00000262525:p.Arg319His						p.R319H	NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	1164	-			319			C2H2-type 7.		Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.956G>A	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099293	0.56183	.	.	ENSG00000102870	ENST00000262525	T	0.37411	1.2	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000330	T	0.46698	0.1406	L	0.31578	0.945	0.32272	N	0.568718	D	0.89917	1.0	D	0.87578	0.998	T	0.55798	-0.8084	10	0.62326	D	0.03	-60.6076	11.7913	0.52072	0.0:0.9185:0.0:0.0815	.	319	Q9UEG4	ZN629_HUMAN	H	319	ENSP00000262525:R319H	ENSP00000262525:R319H	R	-	2	0	ZNF629	30702194	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-1.242000	0.02908	2.629000	0.89072	0.561000	0.74099	CGC		0.637	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		17	45	0	0	0	0.00278	0	17	45				
ITGAX	3687	broad.mit.edu	37	16	31371127	31371127	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:31371127C>A	ENST00000268296.4	+	6	658	c.537C>A	c.(535-537)agC>agA	p.S179R	ITGAX_ENST00000562522.1_Missense_Mutation_p.S179R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	179	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.S179R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGTGATAAGCCAGTTCCAGA	0.587																																							uc002ebu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(535-537)AGC>AGA		integrin alpha X precursor							81.0	73.0	76.0					16																	31371127		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31371127C>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.537C>A	16.37:g.31371127C>A	ENSP00000268296:p.Ser179Arg					ITGAX_uc002ebt.2_Missense_Mutation_p.S179R|ITGAX_uc010vfk.1_5'Flank	p.S179R	NM_000887	NP_000878	P20702	ITAX_HUMAN			6	604	+			179			VWFA.|Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.537C>A	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	1.655	-0.512913	0.04200	.	.	ENSG00000140678	ENST00000268296	T	0.78707	-1.2	4.82	2.74	0.32292	von Willebrand factor, type A (3);	.	.	.	.	T	0.67316	0.2880	L	0.49778	1.585	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.53287	-0.8460	9	0.28530	T	0.3	.	3.9685	0.09443	0.1666:0.5772:0.1621:0.0941	.	179	P20702	ITAX_HUMAN	R	179	ENSP00000268296:S179R	ENSP00000268296:S179R	S	+	3	2	ITGAX	31278628	0.003000	0.15002	0.927000	0.36925	0.198000	0.23893	-0.149000	0.10204	1.090000	0.41315	0.467000	0.42956	AGC		0.587	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		21	109	1	0	7.88262e-20	0.00333	1.19236e-19	21	109				
ITGAX	3687	broad.mit.edu	37	16	31374572	31374572	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:31374572G>T	ENST00000268296.4	+	14	1708	c.1587G>T	c.(1585-1587)ggG>ggT	p.G529G	ITGAX_ENST00000562522.1_Silent_p.G529G	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	529					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.G529G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CAGTGCTGGGGGATGTGAATG	0.607																																							uc002ebu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1585-1587)GGG>GGT		integrin alpha X precursor							124.0	132.0	129.0					16																	31374572		2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31374572G>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1587G>T	16.37:g.31374572G>T						ITGAX_uc002ebt.2_Silent_p.G529G|ITGAX_uc010vfk.1_Silent_p.G179G	p.G529G	NM_000887	NP_000878	P20702	ITAX_HUMAN			14	1654	+			529			Extracellular (Potential).|FG-GAP 6.		Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.1587G>T	CCDS10711.1																																																																																				0.607	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		69	241	1	0	7.14593e-30	0.00361	1.16432e-29	69	241				
ITGAD	3681	broad.mit.edu	37	16	31422758	31422758	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:31422758C>A	ENST00000389202.2	+	14	1676	c.1627C>A	c.(1627-1629)Ccg>Acg	p.P543T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	543					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.P543T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CATTGGGGCCCCGGGAGAGCA	0.647																																							uc002ebv.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1627-1629)CCG>ACG		integrin, alpha D precursor							117.0	118.0	117.0					16																	31422758		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422758C>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1627C>A	16.37:g.31422758C>A	ENSP00000373854:p.Pro543Thr					ITGAD_uc010cap.1_Missense_Mutation_p.P544T	p.P543T	NM_005353	NP_005344	Q13349	ITAD_HUMAN			14	1676	+			543			FG-GAP 6.|Extracellular (Potential).		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.1627C>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742526	0.69418	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.34472	1.36	4.49	4.49	0.54785	.	.	.	.	.	T	0.70631	0.3246	H	0.97158	3.95	0.50313	D	0.999868	D;D	0.69078	0.997;0.997	D;D	0.72625	0.978;0.978	T	0.80848	-0.1199	9	0.87932	D	0	.	12.6781	0.56906	0.0:1.0:0.0:0.0	.	559;543	Q59H14;Q13349	.;ITAD_HUMAN	T	559;543	ENSP00000373854:P543T	ENSP00000373854:P543T	P	+	1	0	ITGAD	31330259	0.994000	0.37717	0.528000	0.27938	0.835000	0.47333	6.186000	0.72026	2.022000	0.59522	0.407000	0.27541	CCG		0.647	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		56	303	1	0	3.4779e-39	0.00361	5.78933e-39	56	303				
NOD2	64127	broad.mit.edu	37	16	50744652	50744652	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:50744652G>T	ENST00000300589.2	+	4	935	c.830G>T	c.(829-831)gGc>gTc	p.G277V	RP11-327F22.6_ENST00000602304.1_RNA|NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	277					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.G277V(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCCACCCTGGGCCTGGAGGAG	0.637																																							uc002egm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(829-831)GGC>GTC		nucleotide-binding oligomerization domain							37.0	37.0	37.0					16																	50744652		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50744652G>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.830G>T	16.37:g.50744652G>T	ENSP00000300589:p.Gly277Val					NOD2_uc010cbk.1_Missense_Mutation_p.G250V|NOD2_uc002egl.1_Missense_Mutation_p.G55V|NOD2_uc010cbl.1_Missense_Mutation_p.G55V|NOD2_uc010cbm.1_Missense_Mutation_p.G55V|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.G277V	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	935	+		all_cancers(37;0.0156)	277					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.830G>T	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042067	0.55003	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.70399	-0.48	5.63	3.34	0.38264	.	0.195424	0.36482	N	0.002575	T	0.78509	0.4294	M	0.65498	2.005	0.80722	D	1	P;D;P	0.71674	0.945;0.998;0.945	P;D;P	0.68353	0.626;0.957;0.626	T	0.77040	-0.2735	10	0.41790	T	0.15	.	8.7294	0.34489	0.1995:0.0:0.8005:0.0	.	61;250;277	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	V	250;277	ENSP00000300589:G277V	ENSP00000300589:G277V	G	+	2	0	NOD2	49302153	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	2.586000	0.46119	1.387000	0.46486	0.462000	0.41574	GGC		0.637	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		10	24	1	0	1.08611e-07	0.000978	1.33076e-07	10	24				
CYLD	1540	broad.mit.edu	37	16	50811792	50811793	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:50811792_50811793GG>TT	ENST00000427738.3	+	7	1283_1284	c.1078_1079GG>TT	c.(1078-1080)GGg>TTg	p.G360L	CYLD_ENST00000398568.2_Missense_Mutation_p.G357L|CYLD_ENST00000311559.9_Missense_Mutation_p.G360L|CYLD_ENST00000564326.1_Missense_Mutation_p.G357L|CYLD_ENST00000566206.1_Missense_Mutation_p.G357L|CYLD_ENST00000568704.2_Missense_Mutation_p.G357L|CYLD_ENST00000569418.1_Missense_Mutation_p.G357L|CYLD_ENST00000540145.1_Missense_Mutation_p.G360L			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	360	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.G360L(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TACCTTAAATGGGTCTTCTGTT	0.297			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														uc002egp.1		NA	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		1	Substitution - Missense(1)		lung(1)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(1078-1080)GGG>TTG		ubiquitin carboxyl-terminal hydrolase CYLD																																				SO:0001583	missense	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50811792_50811793GG>TT	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		Exception_encountered	16.37:g.50811792_50811793delinsTT	ENSP00000392025:p.Gly360Leu					CYLD_uc002egn.1_Missense_Mutation_p.G357L|CYLD_uc002ego.2_Missense_Mutation_p.G357L|CYLD_uc010cbs.1_Missense_Mutation_p.G357L|CYLD_uc002egq.1_Missense_Mutation_p.G357L|CYLD_uc002egr.1_Missense_Mutation_p.G357L|CYLD_uc002egs.1_Missense_Mutation_p.G357L	p.G360L	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			8	1493_1494	+		all_cancers(37;0.0156)	360			Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	DNP	ENST00000427738.3	37	c.1078_1079GG>TT	CCDS45482.1																																																																																				0.297	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			4	61	0	0	0	0.004672	0	4	61				
SALL1	6299	broad.mit.edu	37	16	51174165	51174165	+	Silent	SNP	G	G	T	rs566829973		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:51174165G>T	ENST00000251020.4	-	2	2001	c.1968C>A	c.(1966-1968)acC>acA	p.T656T	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.T559T|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	656					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T656T(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGTGAAGGTGGTGGCACTGC	0.612																																					GBM(103;1352 1446 1855 4775 8890)	GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(3)	8						c.(1966-1968)ACC>ACA		sal-like 1 isoform a							49.0	52.0	51.0					16																	51174165		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174165G>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1968C>A	16.37:g.51174165G>T						SALL1_uc010vgr.1_Silent_p.T559T|SALL1_uc010cbv.2_Intron	p.T656T	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1999	-		all_cancers(37;0.0322)	656					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.1968C>A	CCDS10747.1																																																																																				0.612	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		14	85	1	0	4.7546e-09	0.004007	6.05285e-09	14	85				
SALL1	6299	broad.mit.edu	37	16	51174492	51174492	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:51174492G>T	ENST00000251020.4	-	2	1674	c.1641C>A	c.(1639-1641)gtC>gtA	p.V547V	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.V450V|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	547					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V547V(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAGTAGGCAGGACTGGTTTGG	0.572																																					GBM(103;1352 1446 1855 4775 8890)	GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(3)	8						c.(1639-1641)GTC>GTA		sal-like 1 isoform a							57.0	56.0	57.0					16																	51174492		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174492G>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1641C>A	16.37:g.51174492G>T						SALL1_uc010vgr.1_Silent_p.V450V|SALL1_uc010cbv.2_Intron	p.V547V	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1672	-		all_cancers(37;0.0322)	547					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.1641C>A	CCDS10747.1																																																																																				0.572	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		18	42	1	0	0.000229342	0.001882	0.000251273	18	42				
MMP2	4313	broad.mit.edu	37	16	55536706	55536706	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:55536706G>T	ENST00000219070.4	+	12	2294	c.1785G>T	c.(1783-1785)aaG>aaT	p.K595N	MMP2_ENST00000437642.2_Missense_Mutation_p.K545N|MMP2_ENST00000543485.1_Missense_Mutation_p.K519N|MMP2_ENST00000570308.1_Missense_Mutation_p.K519N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	595	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.K595N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	ATGAGGTGAAGAAGAAAATGG	0.567																																							uc002ehz.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(1783-1785)AAG>AAT		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						82.0	71.0	75.0					16																	55536706		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55536706G>T		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1785G>T	16.37:g.55536706G>T	ENSP00000219070:p.Lys595Asn					MMP2_uc010vhd.1_Missense_Mutation_p.K519N|MMP2_uc010ccc.2_Missense_Mutation_p.K545N|MMP2_uc002eia.3_Missense_Mutation_p.K92N	p.K595N	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	12	2096	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	595			Hemopexin-like 3.|Required for inhibitor TIMP2 binding.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1785G>T	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165712	0.38217	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.08282	3.11;3.11;3.11	5.63	5.63	0.86233	Hemopexin/matrixin (2);	0.090049	0.85682	D	0.000000	T	0.11537	0.0281	L	0.47190	1.495	0.58432	D	0.999999	P;P	0.49783	0.906;0.928	P;P	0.44921	0.451;0.464	T	0.00717	-1.1596	10	0.56958	D	0.05	.	12.9547	0.58421	0.0739:0.0:0.9261:0.0	.	545;595	E9PE45;P08253	.;MMP2_HUMAN	N	595;519;545	ENSP00000219070:K595N;ENSP00000444143:K519N;ENSP00000394237:K545N	ENSP00000219070:K595N	K	+	3	2	MMP2	54094207	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.741000	0.38238	2.659000	0.90383	0.561000	0.74099	AAG		0.567	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			8	65	1	0	3.09899e-07	0.004482	3.74171e-07	8	65				
SLC12A3	6559	broad.mit.edu	37	16	56906304	56906304	+	Silent	SNP	C	C	A	rs78870559		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:56906304C>A	ENST00000563236.1	+	7	919	c.894C>A	c.(892-894)gcC>gcA	p.A298A	SLC12A3_ENST00000438926.2_Silent_p.A298A|SLC12A3_ENST00000262502.5_Silent_p.A297A|SLC12A3_ENST00000566786.1_Silent_p.A297A			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	298					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.A298A(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCTCCTTTGCCAACTATTTAG	0.562																																							uc010ccm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(892-894)GCC>GCA		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						99.0	89.0	92.0					16																	56906304		2198	4300	6498	SO:0001819	synonymous_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56906304C>A		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.894C>A	16.37:g.56906304C>A						SLC12A3_uc002ekd.3_Silent_p.A298A|SLC12A3_uc010ccn.2_Silent_p.A297A	p.A298A	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			7	923	+			298			Helical; (Potential).		A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.894C>A	CCDS58464.1																																																																																				0.562	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			6	90	1	0	6.42651e-13	0.000978	8.90779e-13	6	90				
CX3CL1	6376	broad.mit.edu	37	16	57413650	57413650	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:57413650G>T	ENST00000006053.6	+	2	286	c.175G>T	c.(175-177)Ggc>Tgc	p.G59C	CX3CL1_ENST00000565912.1_Missense_Mutation_p.G21C|CX3CL1_ENST00000564948.1_Intron|CX3CL1_ENST00000563383.1_Missense_Mutation_p.G65C	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	59	Chemokine.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)	p.G59C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCATCATGCGGCAAACGCGC	0.512																																							uc002eli.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(175-177)GGC>TGC		chemokine (C-X3-C motif) ligand 1 precursor							172.0	132.0	145.0					16																	57413650		2198	4300	6498	SO:0001583	missense	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57413650G>T	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.175G>T	16.37:g.57413650G>T	ENSP00000006053:p.Gly59Cys						p.G59C	NM_002996	NP_002987	P78423	X3CL1_HUMAN			2	242	+			59			Extracellular (Potential).|Chemokine.		O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.175G>T	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608259	0.28623	.	.	ENSG00000006210	ENST00000006053	T	0.14893	2.47	3.0	1.04	0.20106	Chemokine interleukin-8-like domain (3);	1.124180	0.06795	N	0.787674	T	0.33847	0.0877	L	0.57536	1.79	0.09310	N	1	D	0.76494	0.999	D	0.68353	0.957	T	0.14952	-1.0454	10	0.87932	D	0	-9.8139	5.7233	0.17998	0.2286:0.0:0.7714:0.0	.	59	P78423	X3CL1_HUMAN	C	59	ENSP00000006053:G59C	ENSP00000006053:G59C	G	+	1	0	CX3CL1	55971151	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	0.291000	0.18994	0.341000	0.23771	0.460000	0.39030	GGC		0.512	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		10	88	1	0	0.00010058	0.001368	0.00011133	10	88				
HYDIN	54768	broad.mit.edu	37	16	71061506	71061506	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:71061506C>A	ENST00000393567.2	-	20	3191	c.3041G>T	c.(3040-3042)aGg>aTg	p.R1014M	HYDIN_ENST00000448691.1_Missense_Mutation_p.R1014M|HYDIN_ENST00000321489.5_Missense_Mutation_p.R1014M|HYDIN_ENST00000448089.2_Splice_Site_p.R1014M	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1014					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.R1014M(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCCCTTACCCTGGGAGTAGC	0.463																																							uc002ezr.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)|skin(1)	2						c.(3040-3042)AGG>ATG		hydrocephalus inducing isoform a							37.0	38.0	38.0					16																	71061506		2193	4299	6492	SO:0001630	splice_region_variant	54768							g.chr16:71061506C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3042+1G>T	16.37:g.71061506C>A						HYDIN_uc010cfz.1_Missense_Mutation_p.R759M|HYDIN_uc002ezv.2_Missense_Mutation_p.R1014M	p.R1014M	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			20	3169	-		Ovarian(137;0.0654)	1014					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.3041G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213501	0.39102	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489	T;T;T;T	0.07114	3.25;3.22;3.52;3.52	4.85	1.23	0.21249	.	0.202831	0.23033	U	0.052709	T	0.18841	0.0452	M	0.69823	2.125	0.80722	D	1	D;D	0.69078	0.997;0.99	P;P	0.58970	0.849;0.799	T	0.01192	-1.1423	10	0.46703	T	0.11	.	8.7841	0.34809	0.0:0.5563:0.0:0.4437	.	1014;1014	Q4G0P3-5;F8WD23	.;.	M	1014	ENSP00000377197:R1014M;ENSP00000398544:R1014M;ENSP00000394826:R1014M;ENSP00000314736:R1014M	ENSP00000313052:R1014M	R	-	2	0	HYDIN	69619007	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	0.662000	0.25038	0.470000	0.27294	0.499000	0.49734	AGG		0.463	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		Missense_Mutation	4	46	1	0	1.23904e-05	0.000602	1.40913e-05	4	46				
PLCG2	5336	broad.mit.edu	37	16	81960704	81960704	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:81960704G>T	ENST00000359376.3	+	23	2649	c.2435G>T	c.(2434-2436)gGa>gTa	p.G812V		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	812	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.G812V(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGAGACTATGGAACCAGGATC	0.547																																							uc002fgt.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(2434-2436)GGA>GTA		phospholipase C, gamma 2							181.0	182.0	182.0					16																	81960704		2025	4181	6206	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81960704G>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2435G>T	16.37:g.81960704G>T	ENSP00000352336:p.Gly812Val						p.G812V	NM_002661	NP_002652	P16885	PLCG2_HUMAN			23	2587	+			812			SH3.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.2435G>T	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807662	0.90623	.	.	ENSG00000197943	ENST00000359376	T	0.48522	0.81	5.29	5.29	0.74685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Src homology-3 domain (4);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.71341	0.3328	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75280	-0.3373	10	0.87932	D	0	.	18.9351	0.92582	0.0:0.0:1.0:0.0	.	812	P16885	PLCG2_HUMAN	V	812	ENSP00000352336:G812V	ENSP00000352336:G812V	G	+	2	0	PLCG2	80518205	1.000000	0.71417	0.880000	0.34516	0.969000	0.65631	9.675000	0.98638	2.473000	0.83533	0.655000	0.94253	GGA		0.547	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			36	198	1	0	6.07928e-31	0.009718	9.92027e-31	36	198				
OR3A1	4994	broad.mit.edu	37	17	3195613	3195613	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:3195613G>T	ENST00000323404.1	-	1	263	c.264C>A	c.(262-264)ctC>ctA	p.L88L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	88					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L88L(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGCGGGACAGGAGACGACTCA	0.562																																					GBM(20;287 516 18743 28660 36594)	GBM(20;287 516 18743 28660 36594)	uc002fvh.1		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(2)|central_nervous_system(1)	3						c.(262-264)CTC>CTA		olfactory receptor, family 3, subfamily A,							93.0	74.0	80.0					17																	3195613		2203	4300	6503	SO:0001819	synonymous_variant	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195613G>T	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.264C>A	17.37:g.3195613G>T							p.L88L	NM_002550	NP_002541	P47881	OR3A1_HUMAN			1	264	-			88			Extracellular (Potential).		Q4VB06|Q6IFM4	Silent	SNP	ENST00000323404.1	37	c.264C>A	CCDS11023.1																																																																																				0.562	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			11	37	1	0	7.03913e-09	0.001368	8.92949e-09	11	37				
ASPA	443	broad.mit.edu	37	17	3386869	3386869	+	Missense_Mutation	SNP	T	T	C	rs144321760	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:3386869T>C	ENST00000263080.2	+	3	667	c.509T>C	c.(508-510)aTa>aCa	p.I170T	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.I170T	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	170					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)	p.I170T(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	ACTCGTTCCATAGCCAAGTAT	0.373																																							uc010ckg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(508-510)ATA>ACA		aspartoacylase	L-Aspartic Acid(DB00128)	T	THR/ILE,THR/ILE	1,4405	2.1+/-5.4	0,1,2202	156.0	138.0	144.0		509,509	5.4	1.0	17	dbSNP_134	144	12,8588	9.1+/-34.3	0,12,4288	yes	missense,missense	ASPA	NM_000049.2,NM_001128085.1	89,89	0,13,6490	CC,CT,TT		0.1395,0.0227,0.1	benign,benign	170/314,170/314	3386869	13,12993	2203	4300	6503	SO:0001583	missense	443				aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	g.chr17:3386869T>C	S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.509T>C	17.37:g.3386869T>C	ENSP00000263080:p.Ile170Thr					SPATA22_uc010vrg.1_Intron|ASPA_uc002fvq.2_Missense_Mutation_p.I170T	p.I170T	NM_001128085	NP_001121557	P45381	ACY2_HUMAN			4	600	+			170						Missense_Mutation	SNP	ENST00000263080.2	37	c.509T>C	CCDS11028.1	.	.	.	.	.	.	.	.	.	.	t	16.87	3.242186	0.58995	2.27E-4	0.001395	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.97906	-4.6;-4.6	5.41	5.41	0.78517	.	0.407102	0.31279	N	0.007925	D	0.97476	0.9174	L	0.40543	1.245	0.80722	D	1	B	0.28552	0.215	P	0.49922	0.626	D	0.96348	0.9256	10	0.35671	T	0.21	-6.1141	14.9405	0.70989	0.0:0.0:0.0:1.0	.	170	P45381	ACY2_HUMAN	T	170	ENSP00000409976:I170T;ENSP00000263080:I170T	ENSP00000263080:I170T	I	+	2	0	ASPA	3333619	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	6.425000	0.73370	2.198000	0.70561	0.533000	0.62120	ATA		0.373	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049		20	87	0	0	0	0.00278	0	20	87				
C17orf74	201243	broad.mit.edu	37	17	7330141	7330141	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:7330141C>A	ENST00000333870.3	+	3	905	c.831C>A	c.(829-831)gcC>gcA	p.A277A	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	277						integral component of membrane (GO:0016021)		p.A277A(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				AGCAGTGGGCCTCGTCTCCAC	0.652																																							uc002ggw.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(829-831)GCC>GCA		hypothetical protein LOC201243							37.0	41.0	40.0					17																	7330141		2087	4220	6307	SO:0001819	synonymous_variant	201243					integral to membrane		g.chr17:7330141C>A	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.831C>A	17.37:g.7330141C>A						FGF11_uc010vtw.1_Intron	p.A277A	NM_175734	NP_783861	Q0P670	CQ074_HUMAN			3	904	+		Prostate(122;0.157)	277						Silent	SNP	ENST00000333870.3	37	c.831C>A	CCDS42255.1																																																																																				0.652	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		4	19	1	0	0.000274275	0.004482	0.000298378	4	19				
TP53	7157	broad.mit.edu	37	17	7579373	7579373	+	Missense_Mutation	SNP	C	C	T	rs587781504		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:7579373C>T	ENST00000269305.4	-	4	503	c.314G>A	c.(313-315)gGc>gAc	p.G105D	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G105D|TP53_ENST00000413465.2_Missense_Mutation_p.G105D|TP53_ENST00000420246.2_Missense_Mutation_p.G105D|TP53_ENST00000445888.2_Missense_Mutation_p.G105D|TP53_ENST00000359597.4_Missense_Mutation_p.G105D	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	105	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; 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.0?(8)|p.G105D(4)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105A(1)|p.G105V(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACCGTAGCTGCCCTGGTAGGT	0.622		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)	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		28	Deletion - Frameshift(11)|Whole gene deletion(8)|Substitution - Missense(6)|Complex - deletion inframe(2)|Deletion - In frame(1)	p.0?(7)|p.G105C(5)|p.G105fs*18(3)|p.G59fs*23(3)|p.G105R(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105A(1)|p.G105S(1)|p.G105V(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.G105G(1)|p.G105D(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)	lung(5)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|ovary(3)|large_intestine(2)|liver(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|pancreas(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						c.(313-315)GGC>GAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							56.0	55.0	55.0					17																	7579373		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|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.chr17:7579373C>T	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.314G>A	17.37:g.7579373C>T	ENSP00000269305:p.Gly105Asp	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.G105D|TP53_uc002gih.2_Missense_Mutation_p.G105D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.G105D|TP53_uc010cni.1_Missense_Mutation_p.G105D|TP53_uc002gij.2_Missense_Mutation_p.G105D|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.G66D|TP53_uc010cnk.1_Missense_Mutation_p.G120D	p.G105D	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	105		G -> D (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.314G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758705	0.69763	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99880	0.9943	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.975;0.999;1.0;0.999;0.998;1.0	D;P;D;D;D;D;D	0.97110	1.0;0.822;0.988;0.999;0.997;0.993;1.0	D	0.96089	0.9060	10	0.87932	D	0	-24.4789	15.6419	0.77012	0.0:1.0:0.0:0.0	.	66;105;105;105;105;105;105	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	105	ENSP00000410739:G105D;ENSP00000352610:G105D;ENSP00000269305:G105D;ENSP00000398846:G105D;ENSP00000391127:G105D;ENSP00000391478:G105D;ENSP00000424104:G105D;ENSP00000426252:G105D	ENSP00000269305:G105D	G	-	2	0	TP53	7520098	1.000000	0.71417	0.208000	0.23602	0.368000	0.29767	6.208000	0.72165	2.630000	0.89119	0.655000	0.94253	GGC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		30	61	0	0	0	0.008361	0	30	61				
MYH10	4628	broad.mit.edu	37	17	8415964	8415964	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:8415964C>G	ENST00000269243.4	-	22	2802	c.2664G>C	c.(2662-2664)gaG>gaC	p.E888D	MYH10_ENST00000360416.3_Missense_Mutation_p.E919D|MYH10_ENST00000396239.1_Missense_Mutation_p.E909D|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000379980.4_Missense_Mutation_p.E904D	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	888					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E888D(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGATATTCTTCTCTTCTAAAA	0.408																																							uc002gll.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2662-2664)GAG>GAC		myosin, heavy polypeptide 10, non-muscle							86.0	77.0	80.0					17																	8415964		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8415964C>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2664G>C	17.37:g.8415964C>G	ENSP00000269243:p.Glu888Asp					MYH10_uc002glm.2_Missense_Mutation_p.E919D|MYH10_uc010cnx.2_Missense_Mutation_p.E897D	p.E888D	NM_005964	NP_005955	P35580	MYH10_HUMAN			22	2760	-			888			Potential.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.2664G>C	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082028	0.76528	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.46	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.88581	0.6475	M	0.90977	3.165	0.58432	D	0.999997	P;D;D	0.58268	0.838;0.982;0.963	P;D;P	0.65323	0.462;0.934;0.595	D	0.89970	0.4093	10	0.66056	D	0.02	.	10.7954	0.46457	0.0:0.8441:0.0:0.1559	.	897;919;888	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	D	888;919;909;904	ENSP00000269243:E888D;ENSP00000353590:E919D;ENSP00000379539:E909D;ENSP00000369315:E904D	ENSP00000269243:E888D	E	-	3	2	MYH10	8356689	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.441000	0.44864	1.474000	0.48178	0.655000	0.94253	GAG		0.408	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			7	39	0	0	0	0.001984	0	7	39				
MYH8	4626	broad.mit.edu	37	17	10309716	10309716	+	Splice_Site	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:10309716T>A	ENST00000403437.2	-	20	2266		c.e20-2		RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal						ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.?(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACCTTGTATCTGCTCAGTTAA	0.353									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																														uc002gmm.2		NA																	1	Unknown(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.e20-1		myosin, heavy chain 8, skeletal muscle,							67.0	68.0	68.0					17																	10309716		2203	4300	6503	SO:0001630	splice_region_variant	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10309716T>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2172-2A>T	17.37:g.10309716T>A						uc002gml.1_Intron	p.R724_splice	NM_002472	NP_002463	P13535	MYH8_HUMAN			20	2267	-								Q14910	Splice_Site	SNP	ENST00000403437.2	37	c.2172_splice	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.337594	0.60963	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0034	0.71492	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH8	10250441	1.000000	0.71417	0.939000	0.37840	0.637000	0.38172	7.601000	0.82783	2.142000	0.66516	0.528000	0.53228	.		0.353	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	Intron	22	72	0	0	0	0.003954	0	22	72				
MYH4	4622	broad.mit.edu	37	17	10360870	10360870	+	Silent	SNP	G	G	T	rs543551260	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:10360870G>T	ENST00000255381.2	-	16	1874	c.1764C>A	c.(1762-1764)acC>acA	p.T588T	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	588	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.T588T(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGTAGTCCACGGTGCCGGCAT	0.527																																							uc002gmn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(1762-1764)ACC>ACA		myosin, heavy polypeptide 4, skeletal muscle							127.0	127.0	127.0					17																	10360870		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10360870G>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1764C>A	17.37:g.10360870G>T						uc002gml.1_Intron	p.T588T	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			16	1875	-			588			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.1764C>A	CCDS11154.1																																																																																				0.527	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		10	104	1	0	7.48243e-07	0.006214	8.88487e-07	10	104				
MYH1	4619	broad.mit.edu	37	17	10399727	10399727	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:10399727T>A	ENST00000226207.5	-	34	4890	c.4796A>T	c.(4795-4797)gAg>gTg	p.E1599V	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1599					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1599V(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGCATGGACTCCACGATTCT	0.443																																							uc002gmo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(4795-4797)GAG>GTG		myosin, heavy chain 1, skeletal muscle, adult							263.0	233.0	243.0					17																	10399727		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399727T>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4796A>T	17.37:g.10399727T>A	ENSP00000226207:p.Glu1599Val					uc002gml.1_Intron	p.E1599V	NM_005963	NP_005954	P12882	MYH1_HUMAN			34	4890	-			1599			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4796A>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.064479	0.76187	.	.	ENSG00000109061	ENST00000226207	T	0.81163	-1.46	5.52	5.52	0.82312	Myosin tail (1);	0.000000	0.43579	U	0.000542	D	0.92851	0.7726	H	0.95884	3.735	0.58432	D	0.999999	D	0.67145	0.996	D	0.72982	0.979	D	0.95015	0.8155	10	0.87932	D	0	.	15.9239	0.79597	0.0:0.0:0.0:1.0	.	1599	P12882	MYH1_HUMAN	V	1599	ENSP00000226207:E1599V	ENSP00000226207:E1599V	E	-	2	0	MYH1	10340452	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.810000	0.86072	2.207000	0.71202	0.533000	0.62120	GAG		0.443	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		26	229	0	0	0	0.004656	0	26	229				
MYH2	4620	broad.mit.edu	37	17	10440587	10440587	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:10440587T>A	ENST00000245503.5	-	16	2244	c.1860A>T	c.(1858-1860)ctA>ctT	p.L620L	MYH2_ENST00000532183.2_Silent_p.L620L|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.L620L	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	620	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.L620L(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						AGAGCTGAGCTAGAGTTTTCA	0.433																																							uc010coi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(1858-1860)CTA>CTT		myosin heavy chain IIa							157.0	165.0	162.0					17																	10440587		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.chr17:10440587T>A		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.1860A>T	17.37:g.10440587T>A						uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.L620L|MYH2_uc010coj.2_Silent_p.L620L	p.L620L	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			16	1988	-			620			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.1860A>T	CCDS11156.1																																																																																				0.433	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		61	208	0	0	0	0.00361	0	61	208				
MYH3	4621	broad.mit.edu	37	17	10555781	10555781	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:10555781C>T	ENST00000583535.1	-	4	391	c.304G>A	c.(304-306)Gtg>Atg	p.V102M	MYH3_ENST00000226209.7_Missense_Mutation_p.V102M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	102	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.V102M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTGTACAGCACGGCTGGCTCA	0.557																																							uc002gmq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(304-306)GTG>ATG		myosin, heavy chain 3, skeletal muscle,							160.0	134.0	142.0					17																	10555781		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10555781C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.304G>A	17.37:g.10555781C>T	ENSP00000464317:p.Val102Met						p.V102M	NM_002470	NP_002461	P11055	MYH3_HUMAN			3	381	-			102			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.304G>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061057	0.93846	.	.	ENSG00000109063	ENST00000226209	T	0.78481	-1.18	4.62	4.62	0.57501	Myosin head, motor domain (2);	.	.	.	.	D	0.91858	0.7423	H	0.96489	3.83	0.47341	D	0.999394	D	0.69078	0.997	D	0.77004	0.989	D	0.94466	0.7680	9	0.72032	D	0.01	.	17.647	0.88151	0.0:1.0:0.0:0.0	.	102	P11055	MYH3_HUMAN	M	102	ENSP00000226209:V102M	ENSP00000226209:V102M	V	-	1	0	MYH3	10496506	1.000000	0.71417	0.968000	0.41197	0.960000	0.62799	5.937000	0.70162	2.399000	0.81585	0.650000	0.86243	GTG		0.557	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		32	80	0	0	0	0.003271	0	32	80				
DNAH9	1770	broad.mit.edu	37	17	11522936	11522937	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:11522936_11522937GG>TT	ENST00000262442.4	+	6	1256_1257	c.1188_1189GG>TT	c.(1186-1191)gtGGtc>gtTTtc	p.V397F	DNAH9_ENST00000454412.2_Missense_Mutation_p.V397F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	397	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.V397F(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACTGCAAGTGGTCTCAGACAC	0.431																																							uc002gne.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(1186-1191)GTGGTC>GTTTTC		dynein, axonemal, heavy chain 9 isoform 2																																				SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11522936_11522937GG>TT	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	Exception_encountered	17.37:g.11522936_11522937delinsTT	ENSP00000262442:p.Val397Phe						p.V397F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	6	1256_1257	+		Breast(5;0.0122)|all_epithelial(5;0.131)	397			Potential.|Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	DNP	ENST00000262442.4	37	c.1188_1189GG>TT	CCDS11160.1																																																																																				0.431	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		17	183	0	0	0	0.004672	0	17	183				
DNAH9	1770	broad.mit.edu	37	17	11532817	11532817	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:11532817G>T	ENST00000262442.4	+	7	1502	c.1434G>T	c.(1432-1434)caG>caT	p.Q478H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q478H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	478	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.Q478H(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAGTCAGCAGGTCCAGCAAA	0.532																																							uc002gne.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(1432-1434)CAG>CAT		dynein, axonemal, heavy chain 9 isoform 2							118.0	112.0	115.0					17																	11532817		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11532817G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1434G>T	17.37:g.11532817G>T	ENSP00000262442:p.Gln478His						p.Q478H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	7	1502	+		Breast(5;0.0122)|all_epithelial(5;0.131)	478			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.1434G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068507	0.36470	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.57907	0.37;0.37	5.61	1.34	0.21922	Dynein heavy chain, domain-1 (1);	0.213146	0.40469	N	0.001085	T	0.46833	0.1413	M	0.69463	2.115	0.80722	D	1	B	0.06786	0.001	B	0.15870	0.014	T	0.41610	-0.9499	10	0.51188	T	0.08	.	8.3913	0.32531	0.3192:0.0:0.6808:0.0	.	478	Q9NYC9	DYH9_HUMAN	H	478	ENSP00000262442:Q478H;ENSP00000414874:Q478H	ENSP00000262442:Q478H	Q	+	3	2	DNAH9	11473542	1.000000	0.71417	0.979000	0.43373	0.591000	0.36615	0.934000	0.28910	0.312000	0.23038	0.655000	0.94253	CAG		0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		25	82	1	0	1.68575e-08	0.007291	2.12098e-08	25	82				
DNAH9	1770	broad.mit.edu	37	17	11651011	11651011	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:11651011C>A	ENST00000262442.4	+	32	6606	c.6538C>A	c.(6538-6540)Ctc>Atc	p.L2180I	DNAH9_ENST00000454412.2_Missense_Mutation_p.L2180I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2180	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L2180I(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGGACTGACCTCAATCCCAA	0.522																																							uc002gne.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(6538-6540)CTC>ATC		dynein, axonemal, heavy chain 9 isoform 2							88.0	81.0	83.0					17																	11651011		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11651011C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6538C>A	17.37:g.11651011C>A	ENSP00000262442:p.Leu2180Ile					DNAH9_uc010coo.2_Missense_Mutation_p.L1474I	p.L2180I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	32	6606	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2180			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6538C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400900	0.62177	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	D;D	0.89270	-2.49;-2.49	4.5	3.5	0.40072	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.64402	D	0.000002	D	0.85775	0.5775	L	0.28608	0.87	0.80722	D	1	P	0.35456	0.502	P	0.44696	0.458	D	0.84770	0.0767	10	0.39692	T	0.17	.	13.0164	0.58759	0.0:0.9199:0.0:0.0801	.	2180	Q9NYC9	DYH9_HUMAN	I	2180;2180;762	ENSP00000262442:L2180I;ENSP00000414874:L2180I	ENSP00000262442:L2180I	L	+	1	0	DNAH9	11591736	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.565000	0.60836	2.346000	0.79739	0.557000	0.71058	CTC		0.522	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		16	38	1	0	5.35267e-07	0.007413	6.38408e-07	16	38				
MYOCD	93649	broad.mit.edu	37	17	12642536	12642536	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:12642536C>T	ENST00000343344.4	+	7	608	c.608C>T	c.(607-609)tCa>tTa	p.S203L	AC005358.1_ENST00000609971.1_Missense_Mutation_p.S107L|MYOCD_ENST00000425538.1_Missense_Mutation_p.S203L|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	203	HDAC5-binding. {ECO:0000250}.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.S203L(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCTTCTGGCTCAGAAAATGAC	0.498																																							uc002gnn.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(607-609)TCA>TTA		myocardin isoform 2							87.0	86.0	86.0					17																	12642536		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12642536C>T	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.608C>T	17.37:g.12642536C>T	ENSP00000341835:p.Ser203Leu					MYOCD_uc002gno.2_Missense_Mutation_p.S203L|MYOCD_uc002gnp.1_Missense_Mutation_p.S107L	p.S203L	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	7	907	+			203			HDAC5-binding (By similarity).		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.608C>T	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	7.905	0.735209	0.15574	.	.	ENSG00000141052	ENST00000425538;ENST00000343344;ENST00000395988	T	0.47528	0.84	4.62	3.63	0.41609	.	0.694506	0.14399	N	0.321989	T	0.46092	0.1375	M	0.66939	2.045	0.30701	N	0.750303	P;P;B	0.40230	0.519;0.708;0.146	B;B;B	0.37480	0.178;0.251;0.023	T	0.54146	-0.8337	10	0.52906	T	0.07	-18.944	11.5691	0.50824	0.1794:0.8206:0.0:0.0	.	107;203;203	Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	L	203;203;107	ENSP00000341835:S203L	ENSP00000341835:S203L	S	+	2	0	MYOCD	12583261	0.998000	0.40836	1.000000	0.80357	0.077000	0.17291	2.636000	0.46545	1.274000	0.44362	0.591000	0.81541	TCA		0.498	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		18	86	0	0	0	0.007413	0	18	86				
HS3ST3A1	9955	broad.mit.edu	37	17	13503879	13503879	+	Missense_Mutation	SNP	G	G	C	rs78372491		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:13503879G>C	ENST00000284110.1	-	1	1365	c.568C>G	c.(568-570)Cgc>Ggc	p.R190G		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	190	Substrate binding.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)	p.R190G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCGTAGCTGCGGTCGAAGAAG	0.716																																							uc002gob.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(568-570)CGC>GGC		heparan sulfate D-glucosaminyl							9.0	10.0	9.0					17																	13503879		2140	4166	6306	SO:0001583	missense	9955					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:13503879G>C	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.568C>G	17.37:g.13503879G>C	ENSP00000284110:p.Arg190Gly						p.R190G	NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	1	1366	-		all_lung(20;0.114)	190	R->E: 32% loss of enzymatic activity.		Substrate binding.|Lumenal (Potential).		A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	c.568C>G	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301075	0.81136	.	.	ENSG00000153976	ENST00000284110	T	0.47869	0.83	4.15	3.07	0.35406	Sulfotransferase domain (1);	0.000000	0.85682	U	0.000000	T	0.69566	0.3125	M	0.86805	2.84	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.75554	-0.3277	10	0.59425	D	0.04	.	12.9513	0.58403	0.0:0.0:0.837:0.163	.	190	Q9Y663	HS3SA_HUMAN	G	190	ENSP00000284110:R190G	ENSP00000284110:R190G	R	-	1	0	HS3ST3A1	13444604	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.035000	0.41155	2.234000	0.73211	0.561000	0.74099	CGC		0.716	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		3	10	0	0	0	0.001984	0	3	10				
MYO18A	399687	broad.mit.edu	37	17	27493336	27493336	+	Missense_Mutation	SNP	G	G	A	rs370927481		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:27493336G>A	ENST00000527372.1	-	2	803	c.623C>T	c.(622-624)cCc>cTc	p.P208L	MYO18A_ENST00000354329.4_Missense_Mutation_p.P208L|MYO18A_ENST00000531253.1_Missense_Mutation_p.P208L|MYO18A_ENST00000533112.1_Missense_Mutation_p.P208L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	208	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.P208L(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CACCACGGGGGGCAGGCGCAG	0.667																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(622-624)CCC>CTC		myosin 18A isoform a		G	LEU/PRO,LEU/PRO	1,3901		0,1,1950	40.0	48.0	46.0		623,623	5.2	1.0	17		46	0,8268		0,0,4134	no	missense,missense	MYO18A	NM_078471.3,NM_203318.1	98,98	0,1,6084	AA,AG,GG		0.0,0.0256,0.0082	probably-damaging,probably-damaging	208/2055,208/2040	27493336	1,12169	1951	4134	6085	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27493336G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.623C>T	17.37:g.27493336G>A	ENSP00000437073:p.Pro208Leu					MYO18A_uc010csa.1_Missense_Mutation_p.P208L|MYO18A_uc002hdu.1_Missense_Mutation_p.P208L	p.P208L	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		2	781	-			208					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.623C>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622856	0.87460	2.56E-4	0.0	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372	D;D;D;D	0.93763	-3.15;-3.28;-3.14;-3.15	5.21	5.21	0.72293	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	D	0.96463	0.8846	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	D	0.96684	0.9506	10	0.87932	D	0	.	18.9562	0.92659	0.0:0.0:1.0:0.0	.	208;208;208	Q92614-3;Q92614-4;Q92614	.;.;MY18A_HUMAN	L	208	ENSP00000346291:P208L;ENSP00000435932:P208L;ENSP00000434228:P208L;ENSP00000437073:P208L	ENSP00000346291:P208L	P	-	2	0	MYO18A	24517462	1.000000	0.71417	0.980000	0.43619	0.950000	0.60333	8.928000	0.92853	2.716000	0.92895	0.563000	0.77884	CCC		0.667	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		14	92	0	0	0	0.00499	0	14	92				
TMIGD1	388364	broad.mit.edu	37	17	28656342	28656342	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:28656342G>C	ENST00000328886.4	-	3	360	c.288C>G	c.(286-288)gaC>gaG	p.D96E	TMIGD1_ENST00000538566.2_Missense_Mutation_p.D96E	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	96	Ig-like C2-type 1.					integral component of membrane (GO:0016021)		p.D96E(1)		breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TGATTCCGTTGTCATTTTCAC	0.483																																							uc002hfa.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(286-288)GAC>GAG		transmembrane and immunoglobulin domain							135.0	113.0	121.0					17																	28656342		2203	4300	6503	SO:0001583	missense	388364					integral to membrane		g.chr17:28656342G>C	AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.288C>G	17.37:g.28656342G>C	ENSP00000332404:p.Asp96Glu					TMIGD1_uc010csh.1_Missense_Mutation_p.D96E	p.D96E	NM_206832	NP_996663	Q6UXZ0	TMIG1_HUMAN			3	361	-			96			Extracellular (Potential).|Ig-like C2-type 1.		A8K2K1|Q6ZMC6	Missense_Mutation	SNP	ENST00000328886.4	37	c.288C>G	CCDS32605.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052584	0.75960	.	.	ENSG00000182271	ENST00000328886;ENST00000538566	T;T	0.24538	1.85;1.85	5.63	4.67	0.58626	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	M	0.72894	2.215	0.47949	D	0.999558	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.44205	-0.9343	10	0.36615	T	0.2	-22.8328	13.4473	0.61148	0.0749:0.0:0.9251:0.0	.	96;96	Q6UXZ0-2;Q6UXZ0	.;TMIG1_HUMAN	E	96	ENSP00000332404:D96E;ENSP00000446118:D96E	ENSP00000332404:D96E	D	-	3	2	TMIGD1	25680468	1.000000	0.71417	0.386000	0.26170	0.872000	0.50106	3.730000	0.55006	1.387000	0.46486	0.579000	0.79373	GAC		0.483	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447955.1	NM_206832		16	105	0	0	0	0.003163	0	16	105				
TMEM132E	124842	broad.mit.edu	37	17	32964723	32964723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:32964723C>A	ENST00000321639.5	+	10	2755	c.2427C>A	c.(2425-2427)tgC>tgA	p.C809*		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	809						integral component of membrane (GO:0016021)		p.C809*(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCGTCTTCTGCCTCGCCATCC	0.632																																							uc002hif.2		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(2425-2427)TGC>TGA		transmembrane protein 132E precursor							74.0	70.0	71.0					17																	32964723		2203	4300	6503	SO:0001587	stop_gained	124842					integral to membrane		g.chr17:32964723C>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2427C>A	17.37:g.32964723C>A	ENSP00000316532:p.Cys809*						p.C809*	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2755	+			809			Helical; (Potential).		Q8WUF4|Q8WVA5	Nonsense_Mutation	SNP	ENST00000321639.5	37	c.2427C>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	41	9.153208	0.99082	.	.	ENSG00000181291	ENST00000321639	.	.	.	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-41.2523	11.9756	0.53089	0.0:0.9129:0.0:0.0871	.	.	.	.	X	809	.	ENSP00000316532:C809X	C	+	3	2	TMEM132E	29988836	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.158000	0.50723	2.344000	0.79699	0.478000	0.44815	TGC		0.632	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		18	83	1	0	2.4624e-09	0.008871	3.16091e-09	18	83				
SLC35G3	146861	broad.mit.edu	37	17	33520879	33520879	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:33520879C>A	ENST00000297307.5	-	1	533	c.448G>T	c.(448-450)Gag>Tag	p.E150*	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	150	EamA 1.					integral component of membrane (GO:0016021)		p.E150*(1)									CCCTGGCTCTCAAGGCAGAGA	0.587																																							uc002hjd.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(448-450)GAG>TAG		acyl-malonyl condensing enzyme 1							178.0	170.0	173.0					17																	33520879		2203	4300	6503	SO:0001587	stop_gained	146861					integral to membrane		g.chr17:33520879C>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.448G>T	17.37:g.33520879C>A	ENSP00000297307:p.Glu150*						p.E150*	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	534	-			150			DUF6 1.		B9EGE9	Nonsense_Mutation	SNP	ENST00000297307.5	37	c.448G>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253705	0.39797	.	.	ENSG00000164729	ENST00000297307	.	.	.	.	.	.	.	0.132984	0.33272	N	0.005097	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-2.7213	2.6646	0.05037	0.0:0.5037:0.0:0.4962	.	.	.	.	X	150	.	ENSP00000297307:E150X	E	-	1	0	SLC35G3	30544992	0.199000	0.23386	0.292000	0.24919	0.294000	0.27393	0.267000	0.18552	0.064000	0.16427	0.064000	0.15345	GAG		0.587	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		44	160	1	0	5.7554e-21	0.00361	8.89321e-21	44	160				
KRT25	147183	broad.mit.edu	37	17	38910148	38910148	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:38910148A>T	ENST00000312150.4	-	3	693	c.633T>A	c.(631-633)agT>agA	p.S211R		NM_181534.3	NP_853512.1			keratin 25									p.S211R(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TCATCTCCTCACTCAGGGTTT	0.448																																							uc002hve.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(631-633)AGT>AGA		keratin 25							163.0	156.0	158.0					17																	38910148		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38910148A>T	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.633T>A	17.37:g.38910148A>T	ENSP00000310573:p.Ser211Arg						p.S211R	NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN			3	694	-		Breast(137;0.00526)	211			Rod.|Coil 1B.			Missense_Mutation	SNP	ENST00000312150.4	37	c.633T>A	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.601286	0.46423	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.88664	-2.41	5.92	-0.213	0.13165	Filament (1);	0.071140	0.64402	D	0.000012	T	0.75148	0.3810	N	0.11131	0.1	0.37520	D	0.917499	B	0.14805	0.011	B	0.18561	0.022	T	0.62779	-0.6782	10	0.45353	T	0.12	.	8.8582	0.35240	0.3157:0.1483:0.536:0.0	.	211	Q7Z3Z0	K1C25_HUMAN	R	211	ENSP00000310573:S211R	ENSP00000310573:S211R	S	-	3	2	KRT25	36163674	0.000000	0.05858	0.997000	0.53966	0.954000	0.61252	-0.690000	0.05138	-0.091000	0.12440	0.482000	0.46254	AGT		0.448	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		54	228	0	0	0	0.00361	0	54	228				
KRT28	162605	broad.mit.edu	37	17	38953178	38953178	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:38953178A>G	ENST00000306658.7	-	5	1033	c.968T>C	c.(967-969)cTg>cCg	p.L323P		NM_181535.3	NP_853513.2			keratin 28									p.L323P(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CGTGGCCATCAGGGACTGCAG	0.577																																					Melanoma(19;789 869 15380 26882 39836)	Melanoma(19;789 869 15380 26882 39836)	uc002hvh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(967-969)CTG>CCG		keratin 25D							69.0	72.0	71.0					17																	38953178		2203	4300	6503	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38953178A>G	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.968T>C	17.37:g.38953178A>G	ENSP00000305263:p.Leu323Pro						p.L323P	NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN			5	1034	-		Breast(137;0.000301)	323			Rod.|Coil 2.			Missense_Mutation	SNP	ENST00000306658.7	37	c.968T>C	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.890467	0.33348	.	.	ENSG00000173908	ENST00000306658	D	0.90676	-2.71	5.45	3.19	0.36642	Filament (1);	0.137238	0.33477	N	0.004872	D	0.95017	0.8387	M	0.93594	3.435	0.58432	D	0.999996	P	0.40107	0.703	P	0.56398	0.797	D	0.93179	0.6573	10	0.66056	D	0.02	.	6.3029	0.21123	0.4845:0.1273:0.0:0.3882	.	323	Q7Z3Y7	K1C28_HUMAN	P	323	ENSP00000305263:L323P	ENSP00000305263:L323P	L	-	2	0	KRT28	36206704	0.270000	0.24152	0.985000	0.45067	0.222000	0.24845	0.792000	0.26929	0.420000	0.25954	-1.834000	0.00590	CTG		0.577	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		3	144	0	0	0	0.009096	0	3	144				
KRT39	390792	broad.mit.edu	37	17	39118699	39118699	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:39118699G>T	ENST00000355612.2	-	4	860	c.825C>A	c.(823-825)atC>atA	p.I275I	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	275	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.I275I(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				TTGTCTCCATGATGGGCTCAT	0.468																																							uc002hvo.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(823-825)ATC>ATA		type I hair keratin KA35							374.0	378.0	376.0					17																	39118699		2203	4296	6499	SO:0001819	synonymous_variant	390792					intermediate filament	structural molecule activity	g.chr17:39118699G>T	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.825C>A	17.37:g.39118699G>T						KRT39_uc010wfm.1_Silent_p.I8I	p.I275I	NM_213656	NP_998821	Q6A163	K1C39_HUMAN			4	861	-		Breast(137;0.00043)|Ovarian(249;0.15)	275			Coil 2.|Rod.		B2RXK6|Q6IFU6	Silent	SNP	ENST00000355612.2	37	c.825C>A	CCDS11382.1																																																																																				0.468	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		152	554	1	0	1.11308e-80	0.00361	1.88785e-80	152	554				
KRTAP4-2	85291	broad.mit.edu	37	17	39334263	39334263	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:39334263G>T	ENST00000377726.2	-	1	197	c.154C>A	c.(154-156)Cag>Aag	p.Q52K		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	52	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)		p.Q169K(1)|p.Q52K(1)		kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CACACAGACTGGCAGCACTGC	0.672																																							uc002hwd.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(154-156)CAG>AAG		keratin associated protein 4-2							37.0	43.0	41.0					17																	39334263		2200	4289	6489	SO:0001583	missense	85291					keratin filament		g.chr17:39334263G>T	AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"""Keratin associated proteins"""	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.154C>A	17.37:g.39334263G>T	ENSP00000366955:p.Gln52Lys						p.Q52K	NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	198	-		Breast(137;0.000496)	52			20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].|8.		A0JP64	Missense_Mutation	SNP	ENST00000377726.2	37	c.154C>A	CCDS11384.1	.	.	.	.	.	.	.	.	.	.	.	10.83	1.461950	0.26248	.	.	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.01369	4.97	4.46	-0.615	0.11587	.	2.716310	0.02412	U	0.081761	T	0.06005	0.0156	M	0.64260	1.97	0.09310	N	1	P	0.50156	0.932	D	0.67103	0.949	T	0.49890	-0.8891	10	0.13470	T	0.59	.	9.645	0.39861	0.0:0.4263:0.4281:0.1456	.	52	Q9BYR5	KRA42_HUMAN	K	52;169	ENSP00000366955:Q52K	ENSP00000366955:Q52K	Q	-	1	0	KRTAP4-2	36587789	0.000000	0.05858	0.031000	0.17742	0.029000	0.11900	-0.398000	0.07259	0.049000	0.15920	0.514000	0.50259	CAG		0.672	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			19	38	1	0	2.37509e-13	0.010504	3.31344e-13	19	38				
CNTD1	124817	broad.mit.edu	37	17	40959840	40959840	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:40959840T>A	ENST00000588408.1	+	6	1056	c.780T>A	c.(778-780)atT>atA	p.I260I	CNTD1_ENST00000588527.1_Silent_p.I177I|CNTD1_ENST00000315066.5_3'UTR	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	260								p.I260I(1)		central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TAGGAATCATTGCAGCAAGTG	0.408																																							uc002ibm.3		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(778-780)ATT>ATA		cyclin N-terminal domain containing 1							142.0	125.0	131.0					17																	40959840		2203	4300	6503	SO:0001819	synonymous_variant	124817							g.chr17:40959840T>A	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.780T>A	17.37:g.40959840T>A						CNTD1_uc010wha.1_Silent_p.I177I	p.I260I	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	6	1012	+		Breast(137;0.00104)	260					Q658Q6|Q8NEP1	Silent	SNP	ENST00000588408.1	37	c.780T>A	CCDS11440.1																																																																																				0.408	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478		22	97	0	0	0	0.003954	0	22	97				
GPATCH8	23131	broad.mit.edu	37	17	42477130	42477131	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:42477130_42477131CC>AA	ENST00000591680.1	-	8	2344_2345	c.2314_2315GG>TT	c.(2314-2316)GGt>TTt	p.G772F	GPATCH8_ENST00000434000.1_Missense_Mutation_p.G694F	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	772	Poly-Gly.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G772V(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ACCACCCCCACCTTCATCCTTT	0.584																																							uc002igw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(2314-2316)GGT>TTT		G patch domain containing 8																																				SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42477130_42477131CC>AA	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2314_2315delinsAA	17.37:g.42477130_42477131delinsAA	ENSP00000467556:p.Gly772Phe					GPATCH8_uc002igv.1_Missense_Mutation_p.G694F|GPATCH8_uc010wiz.1_Missense_Mutation_p.G694F	p.G772F	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	2378_2379	-		Prostate(33;0.0181)	772			Poly-Gly.		B9EGP9|O60300|Q8TB99	Missense_Mutation	DNP	ENST00000591680.1	37	c.2314_2315GG>TT	CCDS32666.1																																																																																				0.584	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		10	126	0	0	0	0.004672	0	10	126				
ZNF652	22834	broad.mit.edu	37	17	47376242	47376242	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:47376242T>A	ENST00000362063.2	-	6	1672	c.1354A>T	c.(1354-1356)Agc>Tgc	p.S452C	ZNF652_ENST00000430262.2_Missense_Mutation_p.S452C	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	452					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.S452C(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TTGGGGCGGCTGGTGAAGCTT	0.468																																							uc002iov.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1354-1356)AGC>TGC		zinc finger protein 652							54.0	52.0	53.0					17																	47376242		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47376242T>A	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.1354A>T	17.37:g.47376242T>A	ENSP00000354686:p.Ser452Cys					ZNF652_uc002iow.2_Missense_Mutation_p.S452C|ZNF652_uc002iou.3_RNA	p.S452C	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		6	1818	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		452			C2H2-type 8.		A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.1354A>T	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.746414	0.69418	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.20332	2.08;2.08	4.81	3.71	0.42584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.083566	0.85682	D	0.000000	T	0.32224	0.0822	L	0.45285	1.41	0.58432	D	0.999991	D	0.71674	0.998	D	0.64144	0.922	T	0.01436	-1.1355	10	0.37606	T	0.19	-15.189	10.4985	0.44791	0.1455:0.0:0.0:0.8545	.	452	Q9Y2D9	ZN652_HUMAN	C	452	ENSP00000354686:S452C;ENSP00000416305:S452C	ENSP00000354686:S452C	S	-	1	0	ZNF652	44731241	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.847000	0.86896	0.832000	0.34804	0.402000	0.26972	AGC		0.468	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		21	83	0	0	0	0.00278	0	21	83				
CACNA1G	8913	broad.mit.edu	37	17	48649379	48649379	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:48649379C>T	ENST00000359106.5	+	5	727	c.727C>T	c.(727-729)Cta>Tta	p.L243L	CACNA1G_ENST00000507510.2_Silent_p.L243L|CACNA1G_ENST00000503485.1_Silent_p.L243L|CACNA1G_ENST00000515165.1_Silent_p.L243L|CACNA1G_ENST00000354983.4_Silent_p.L243L|CACNA1G_ENST00000513689.2_Silent_p.L243L|CACNA1G_ENST00000442258.2_Silent_p.L243L|CACNA1G_ENST00000360761.4_Silent_p.L243L|CACNA1G_ENST00000352832.5_Silent_p.L243L|CACNA1G_ENST00000514079.1_Silent_p.L243L|CACNA1G_ENST00000429973.2_Silent_p.L243L|CACNA1G_ENST00000515411.1_Silent_p.L243L|CACNA1G_ENST00000507609.1_Silent_p.L243L|CACNA1G_ENST00000507336.1_Silent_p.L243L|CACNA1G_ENST00000513964.1_Silent_p.L243L|CACNA1G_ENST00000514181.1_Silent_p.L243L|CACNA1G_ENST00000416767.4_Silent_p.L243L|CACNA1G_ENST00000505165.1_Silent_p.L243L|CACNA1G_ENST00000507896.1_Silent_p.L243L|CACNA1G_ENST00000510115.1_Silent_p.L243L|CACNA1G_ENST00000358244.5_Silent_p.L243L|CACNA1G_ENST00000510366.1_Silent_p.L243L|CACNA1G_ENST00000512389.1_Silent_p.L243L|CACNA1G_ENST00000514717.1_Silent_p.L243L|CACNA1G_ENST00000502264.1_Silent_p.L243L|CACNA1G_ENST00000515765.1_Silent_p.L243L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	243					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.L243L(4)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCGATGCTTCCTACCTGAGAA	0.602																																							uc002irk.1		NA																	4	Substitution - coding silent(4)		lung(4)	breast(1)	1						c.(727-729)CTA>TTA		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						73.0	72.0	73.0					17																	48649379		2085	4215	6300	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48649379C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.727C>T	17.37:g.48649379C>T						CACNA1G_uc002iri.1_Silent_p.L243L|CACNA1G_uc002irj.1_Silent_p.L243L|CACNA1G_uc002irl.1_Silent_p.L243L|CACNA1G_uc002irm.1_Silent_p.L243L|CACNA1G_uc002irn.1_Silent_p.L243L|CACNA1G_uc002iro.1_Silent_p.L243L|CACNA1G_uc002irp.1_Silent_p.L243L|CACNA1G_uc002irq.1_Silent_p.L243L|CACNA1G_uc002irr.1_Silent_p.L243L|CACNA1G_uc002irs.1_Silent_p.L243L|CACNA1G_uc002irt.1_Silent_p.L243L|CACNA1G_uc002irv.1_Silent_p.L243L|CACNA1G_uc002irw.1_Silent_p.L243L|CACNA1G_uc002iru.1_Silent_p.L243L|CACNA1G_uc002irx.1_Silent_p.L156L|CACNA1G_uc002iry.1_Silent_p.L156L|CACNA1G_uc002irz.1_Silent_p.L156L|CACNA1G_uc002isa.1_Silent_p.L156L|CACNA1G_uc002isb.1_Silent_p.L156L|CACNA1G_uc002isc.1_Silent_p.L156L|CACNA1G_uc002isd.1_Silent_p.L156L|CACNA1G_uc002ise.1_Silent_p.L156L|CACNA1G_uc002isf.1_Silent_p.L156L|CACNA1G_uc002isg.1_Silent_p.L156L|CACNA1G_uc002ish.1_Silent_p.L156L|CACNA1G_uc002isi.1_Silent_p.L156L	p.L243L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		5	1099	+	Breast(11;6.7e-17)		243			Extracellular (Potential).|I.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.727C>T	CCDS45730.1																																																																																				0.602	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		5	69	0	0	0	0.000602	0	5	69				
KIF2B	84643	broad.mit.edu	37	17	51900791	51900791	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:51900791G>A	ENST00000268919.4	+	1	553	c.397G>A	c.(397-399)Gtg>Atg	p.V133M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	133					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V133L(2)|p.V133M(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGCCTGGATGTGAGGGTCCC	0.582																																							uc002iua.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(3)	8						c.(397-399)GTG>ATG		kinesin family member 2B							61.0	64.0	63.0					17																	51900791		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900791G>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.397G>A	17.37:g.51900791G>A	ENSP00000268919:p.Val133Met					uc010wna.1_RNA	p.V133M	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	553	+			133					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.397G>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	3.246	-0.154316	0.06585	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74315	-0.83	4.43	-3.11	0.05299	.	0.719269	0.10787	N	0.634146	T	0.50326	0.1609	N	0.14661	0.345	0.09310	N	1	B	0.20887	0.049	B	0.12837	0.008	T	0.31998	-0.9923	10	0.46703	T	0.11	.	4.9107	0.13820	0.0796:0.4669:0.223:0.2305	.	133	Q8N4N8	KIF2B_HUMAN	M	133;56	ENSP00000268919:V133M	ENSP00000268919:V133M	V	+	1	0	KIF2B	49255790	0.000000	0.05858	0.000000	0.03702	0.480000	0.33159	-1.677000	0.01944	-0.457000	0.07033	0.655000	0.94253	GTG		0.582	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		18	154	0	0	0	0.007413	0	18	154				
KIF2B	84643	broad.mit.edu	37	17	51902231	51902231	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:51902231G>T	ENST00000268919.4	+	1	1993	c.1837G>T	c.(1837-1839)Ggg>Tgg	p.G613W		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	613					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G613W(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CACAATTTCAGGGAAGGGATC	0.418																																							uc002iua.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(1837-1839)GGG>TGG		kinesin family member 2B							160.0	150.0	153.0					17																	51902231		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51902231G>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1837G>T	17.37:g.51902231G>T	ENSP00000268919:p.Gly613Trp					uc010wna.1_RNA	p.G613W	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1993	+			613					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1837G>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.472472	0.01044	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73469	-0.75	5.51	-2.81	0.05805	.	1.979650	0.02727	N	0.114587	T	0.46444	0.1393	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19386	-1.0307	10	0.36615	T	0.2	.	0.2538	0.00209	0.2635:0.1651:0.2651:0.3063	.	613	Q8N4N8	KIF2B_HUMAN	W	613;501	ENSP00000268919:G613W	ENSP00000268919:G613W	G	+	1	0	KIF2B	49257230	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.500000	0.06405	-0.753000	0.04721	-2.136000	0.00340	GGG		0.418	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		12	157	1	0	0.00136819	0.001368	0.00145751	12	157				
MKS1	54903	broad.mit.edu	37	17	56290356	56290356	+	Missense_Mutation	SNP	C	C	G	rs184444815		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:56290356C>G	ENST00000393119.2	-	8	919	c.845G>C	c.(844-846)cGa>cCa	p.R282P	MKS1_ENST00000337050.7_Missense_Mutation_p.R282P|MKS1_ENST00000546108.1_Missense_Mutation_p.R79P|MKS1_ENST00000313863.6_Missense_Mutation_p.R282P|MKS1_ENST00000537529.2_Missense_Mutation_p.R272P	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	282					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.R282P(2)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTTGAACACTCGCCGTTCCCG	0.537																																							uc002ivr.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(844-846)CGA>CCA		Meckel syndrome type 1 protein isoform 1							106.0	116.0	113.0					17																	56290356		2050	4194	6244	SO:0001583	missense	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56290356C>G	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.845G>C	17.37:g.56290356C>G	ENSP00000376827:p.Arg282Pro					MKS1_uc010wnq.1_Missense_Mutation_p.R79P|MKS1_uc002ivs.1_Missense_Mutation_p.R282P	p.R282P	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN			8	920	-			282					B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	c.845G>C	CCDS11603.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.117073|4.117073	0.77323|0.77323	.|.	.|.	ENSG00000011143|ENSG00000011143	ENST00000313863|ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050;ENST00000546108	.|T;T;T;T	.|0.74421	.|-0.37;-0.36;-0.12;-0.84	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|0.327559	.|0.39020	.|N	.|0.001496	T|T	0.79782|0.79782	0.4505|0.4505	L|L	0.57536|0.57536	1.79|1.79	0.50313|0.50313	D|D	0.999865|0.999865	.|D;D	.|0.69078	.|0.997;0.983	.|P;P	.|0.56278	.|0.795;0.592	T|T	0.81059|0.81059	-0.1104|-0.1104	5|10	.|0.72032	.|D	.|0.01	-10.4427|-10.4427	12.1749|12.1749	0.54180|0.54180	0.0:0.9218:0.0:0.0782|0.0:0.9218:0.0:0.0782	.|.	.|282;282	.|A8MPP8;Q9NXB0	.|.;MKS1_HUMAN	Q|P	283|272;282;282;282;79	.|ENSP00000442096:R272P;ENSP00000376827:R282P;ENSP00000338407:R282P;ENSP00000443012:R79P	.|ENSP00000338407:R282P	E|R	-|-	1|2	0|0	MKS1|MKS1	53645355|53645355	0.925000|0.925000	0.31364|0.31364	0.973000|0.973000	0.42090|0.42090	0.884000|0.884000	0.51177|0.51177	1.780000|1.780000	0.38634|0.38634	2.782000|2.782000	0.95742|0.95742	0.637000|0.637000	0.83480|0.83480	GAG|CGA		0.537	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		42	89	0	0	0	0.00361	0	42	89				
SKA2	348235	broad.mit.edu	37	17	57208721	57208721	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:57208721T>A	ENST00000330137.7	-	2	146	c.41A>T	c.(40-42)aAa>aTa	p.K14I	SKA2_ENST00000437036.2_Nonsense_Mutation_p.K46*|SKA2_ENST00000578105.1_Intron|SKA2_ENST00000583380.1_Missense_Mutation_p.K14I|SKA2_ENST00000581068.1_Missense_Mutation_p.K14I|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000580541.1_Intron|RNU2-58P_ENST00000516403.1_RNA	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	14					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)	p.K46*(2)|p.K4I(1)		lung(4)	4						AGACTCAGCTTTCTGGAACTA	0.313																																							uc002ixd.2		NA																	3	Substitution - Nonsense(2)|Substitution - Missense(1)		lung(3)		0						c.(40-42)AAA>ATA		spindle and KT associated 2 isoform 1							47.0	40.0	42.0					17																	57208721		1826	4080	5906	SO:0001583	missense	348235				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr17:57208721T>A	BC017873	CCDS45747.1, CCDS45748.1	17q23.2	2013-01-17	2009-08-19	2009-08-19	ENSG00000182628	ENSG00000182628			28006	protein-coding gene	gene with protein product			"""family with sequence similarity 33, member A"""	FAM33A		17093495, 19289083, 18583474	Standard	NM_182620		Approved	FLJ12758	uc010dde.1	Q8WVK7		ENST00000330137.7:c.41A>T	17.37:g.57208721T>A	ENSP00000333433:p.Lys14Ile					SKA2_uc002ixc.2_RNA|SKA2_uc010dde.1_Nonsense_Mutation_p.K46*|SKA2_uc002ixe.2_RNA	p.K14I	NM_182620	NP_872426	Q8WVK7	SKA2_HUMAN			2	317	-			14					A6NIL3|B3KPL3|E9PCB8	Missense_Mutation	SNP	ENST00000330137.7	37	c.41A>T	CCDS45747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.2|28.2	4.903824|4.903824	0.92035|0.92035	.|.	.|.	ENSG00000182628|ENSG00000182628	ENST00000330137|ENST00000437036	T|.	0.32272|.	1.46|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.047776|0.047776	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.72708|.	0.3494|.	.|.	.|.	.|.	0.46437|0.46437	D|D	0.999043|0.999043	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|.	0.75926|.	-0.3145|.	9|.	0.87932|0.72032	D|D	0|0.01	.|.	12.095|12.095	0.53750|0.53750	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	14|.	Q8WVK7|.	SKA2_HUMAN|.	I|X	14|46	ENSP00000333433:K14I|.	ENSP00000333433:K14I|ENSP00000411231:K46X	K|K	-|-	2|1	0|0	SKA2|SKA2	54563503|54563503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.034000|5.034000	0.64152|0.64152	2.124000|2.124000	0.65301|0.65301	0.528000|0.528000	0.53228|0.53228	AAA|AAG		0.313	SKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445939.1	NM_182620		5	7	0	0	0	0.001984	0	5	7				
CLTC	1213	broad.mit.edu	37	17	57728627	57728627	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:57728627G>A	ENST00000269122.3	+	5	1019	c.745G>A	c.(745-747)Gat>Aat	p.D249N	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.D249N	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	249	Globular terminal domain.|WD40-like repeat 5.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.D249N(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAAGGCAGTGGATGTCTTCTT	0.343			T	"""ALK, TFE3"""	"""ALCL, renal """																																		uc002ixq.1		NA		Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(745-747)GAT>AAT		clathrin heavy chain 1							160.0	164.0	163.0					17																	57728627		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57728627G>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.745G>A	17.37:g.57728627G>A	ENSP00000269122:p.Asp249Asn					CLTC_uc002ixp.2_Missense_Mutation_p.D249N|CLTC_uc002ixr.1_Missense_Mutation_p.D253N	p.D249N	NM_004859	NP_004850	Q00610	CLH1_HUMAN			5	1188	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		249			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.745G>A	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	36	5.782265	0.96937	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.27890	1.64;1.64	5.62	5.62	0.85841	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	M	0.89785	3.06	0.80722	D	1	D;B	0.63880	0.993;0.009	D;B	0.75020	0.985;0.118	T	0.71006	-0.4717	10	0.66056	D	0.02	.	20.0333	0.97547	0.0:0.0:1.0:0.0	.	249;249	Q00610;Q00610-2	CLH1_HUMAN;.	N	249	ENSP00000269122:D249N;ENSP00000376763:D249N	ENSP00000269122:D249N	D	+	1	0	CLTC	55083409	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.810000	0.96702	0.585000	0.79938	GAT		0.343	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		37	197	0	0	0	0.002522	0	37	197				
PSMD12	5718	broad.mit.edu	37	17	65340847	65340847	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:65340847G>T	ENST00000356126.3	-	9	1065	c.958C>A	c.(958-960)Ctt>Att	p.L320I	PSMD12_ENST00000357146.4_Missense_Mutation_p.L300I	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	320	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.L320I(1)		breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TCCTCAACAAGTGTGGACCAA	0.358																																							uc002jfy.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(958-960)CTT>ATT		proteasome 26S non-ATPase subunit 12 isoform 1							76.0	72.0	73.0					17																	65340847		2203	4300	6503	SO:0001583	missense	5718				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr17:65340847G>T	AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.958C>A	17.37:g.65340847G>T	ENSP00000348442:p.Leu320Ile					PSMD12_uc002jga.2_Missense_Mutation_p.L300I|PSMD12_uc002jfz.2_Missense_Mutation_p.L261I	p.L320I	NM_002816	NP_002807	O00232	PSD12_HUMAN			9	1044	-	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)		320			PCI.		A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	ENST00000356126.3	37	c.958C>A	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492824	0.26774	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.29397	1.57;1.57	5.72	5.72	0.89469	Proteasome component (PCI) domain (1);	0.060525	0.64402	D	0.000002	T	0.27384	0.0672	L	0.31371	0.925	0.58432	D	0.999993	B;B	0.15719	0.014;0.006	B;B	0.27262	0.078;0.057	T	0.08848	-1.0702	10	0.11794	T	0.64	-14.4798	19.8823	0.96903	0.0:0.0:1.0:0.0	.	300;320	A6NP15;O00232	.;PSD12_HUMAN	I	320;300	ENSP00000348442:L320I;ENSP00000349667:L300I	ENSP00000348442:L320I	L	-	1	0	PSMD12	62771309	1.000000	0.71417	0.988000	0.46212	0.912000	0.54170	3.019000	0.49635	2.693000	0.91896	0.585000	0.79938	CTT		0.358	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871		18	81	1	0	1.02788e-11	0.00499	1.396e-11	18	81				
ABCA8	10351	broad.mit.edu	37	17	66873755	66873755	+	Silent	SNP	G	G	A	rs375417567		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:66873755G>A	ENST00000269080.2	-	31	4121	c.3984C>T	c.(3982-3984)aaC>aaT	p.N1328N	ABCA8_ENST00000430352.2_Silent_p.N1368N|ABCA8_ENST00000586539.1_Silent_p.N1368N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1328	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.N1328N(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCCACAGCGCGTTCTCCTGAG	0.597																																							uc002jhp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(3982-3984)AAC>AAT		ATP-binding cassette, sub-family A member 8		G		0,4406		0,0,2203	137.0	117.0	123.0		3984	-5.6	0.0	17		123	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ABCA8	NM_007168.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1328/1582	66873755	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66873755G>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3984C>T	17.37:g.66873755G>A						ABCA8_uc002jhq.2_Silent_p.N1368N|ABCA8_uc010wqq.1_Silent_p.N1363N	p.N1328N	NM_007168	NP_009099	O94911	ABCA8_HUMAN			31	4163	-	Breast(10;4.56e-13)		1328			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.3984C>T	CCDS11680.1																																																																																				0.597	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		17	180	0	0	0	0.006122	0	17	180				
ABCA6	23460	broad.mit.edu	37	17	67111003	67111003	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:67111003C>A	ENST00000284425.2	-	13	1856	c.1682G>T	c.(1681-1683)tGt>tTt	p.C561F		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	561	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.C561F(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GAATTGAGGACAGACGCCAGT	0.348																																							uc002jhw.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(1681-1683)TGT>TTT		ATP-binding cassette, sub-family A, member 6							138.0	125.0	130.0					17																	67111003		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67111003C>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1682G>T	17.37:g.67111003C>A	ENSP00000284425:p.Cys561Phe					ABCA6_uc002jhx.1_Missense_Mutation_p.C14F	p.C561F	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			13	1857	-	Breast(10;5.65e-12)		561			ABC transporter 1.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.1682G>T	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038350	0.54896	.	.	ENSG00000154262	ENST00000284425	D	0.93488	-3.23	4.87	4.87	0.63330	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000017	D	0.96827	0.8964	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97258	0.9902	10	0.87932	D	0	.	17.5286	0.87808	0.0:1.0:0.0:0.0	.	561	Q8N139	ABCA6_HUMAN	F	561	ENSP00000284425:C561F	ENSP00000284425:C561F	C	-	2	0	ABCA6	64622598	1.000000	0.71417	0.984000	0.44739	0.222000	0.24845	6.428000	0.73383	2.686000	0.91538	0.650000	0.86243	TGT		0.348	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		19	122	1	0	2.94398e-08	0.007413	3.67401e-08	19	122				
KIF19	124602	broad.mit.edu	37	17	72348399	72348399	+	Nonsense_Mutation	SNP	G	G	T	rs532137048	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:72348399G>T	ENST00000389916.4	+	14	2038	c.1900G>T	c.(1900-1902)Gaa>Taa	p.E634*	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	634					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.E634*(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						AGAGCTCTACGAAGTGTACCT	0.701																																							uc002jkm.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1900-1902)GAA>TAA		kinesin family member 19							26.0	31.0	29.0					17																	72348399		1948	4128	6076	SO:0001587	stop_gained	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72348399G>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.1900G>T	17.37:g.72348399G>T	ENSP00000374566:p.Glu634*					KIF19_uc002jkl.2_Nonsense_Mutation_p.E592*	p.E634*	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			14	2038	+			634					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Nonsense_Mutation	SNP	ENST00000389916.4	37	c.1900G>T	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	37	6.384727	0.97524	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	.	.	.	5.23	1.93	0.25924	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	10.9139	0.47124	0.0:0.3913:0.4744:0.1342	.	.	.	.	X	592;634	.	ENSP00000374566:E634X	E	+	1	0	KIF19	69859994	0.210000	0.23517	0.001000	0.08648	0.968000	0.65278	1.706000	0.37878	0.158000	0.19367	0.456000	0.33151	GAA		0.701	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		19	22	1	0	1.01871e-10	0.008871	1.33636e-10	19	22				
OTOP2	92736	broad.mit.edu	37	17	72920736	72920736	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:72920736G>C	ENST00000580223.1	+	1	39	c.9G>C	c.(7-9)gaG>gaC	p.E3D	OTOP2_ENST00000331427.4_Missense_Mutation_p.E3D|USH1G_ENST00000319642.1_5'Flank			Q7RTS6	OTOP2_HUMAN	otopetrin 2	3						integral component of membrane (GO:0016021)		p.E3D(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCATGTCCGAGGAGCTGGCCC	0.692																																							uc010wrp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(7-9)GAG>GAC		otopetrin 2							7.0	9.0	9.0					17																	72920736		2168	4270	6438	SO:0001583	missense	92736					integral to membrane		g.chr17:72920736G>C	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.9G>C	17.37:g.72920736G>C	ENSP00000463837:p.Glu3Asp					USH1G_uc002jme.1_5'Flank|USH1G_uc010wro.1_5'Flank|OTOP2_uc002jmf.1_Missense_Mutation_p.E3D	p.E3D	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN			3	98	+	all_lung(278;0.172)|Lung NSC(278;0.207)		3						Missense_Mutation	SNP	ENST00000580223.1	37	c.9G>C	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.329729	0.41297	.	.	ENSG00000183034	ENST00000331427	T	0.10668	2.85	3.92	1.84	0.25277	.	0.804110	0.10899	N	0.621790	T	0.09905	0.0243	L	0.43152	1.355	0.27155	N	0.961319	B	0.09022	0.002	B	0.04013	0.001	T	0.29181	-1.0020	10	0.35671	T	0.21	-9.6237	8.0205	0.30406	0.2113:0.0:0.7887:0.0	.	3	Q7RTS6	OTOP2_HUMAN	D	3	ENSP00000332528:E3D	ENSP00000332528:E3D	E	+	3	2	OTOP2	70432331	0.444000	0.25649	0.901000	0.35422	0.922000	0.55478	0.057000	0.14279	0.292000	0.22492	0.561000	0.74099	GAG		0.692	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		3	17	0	0	0	0.004672	0	3	17				
CASKIN2	57513	broad.mit.edu	37	17	73503731	73503731	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:73503731C>A	ENST00000321617.3	-	4	764	c.178G>T	c.(178-180)Ggc>Tgc	p.G60C	CASKIN2_ENST00000433559.2_5'UTR|CASKIN2_ENST00000581870.1_Missense_Mutation_p.G60C	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	60						cytoplasm (GO:0005737)		p.G60C(1)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCAGGCTGCCCCCCAAAGCA	0.607																																							uc002joc.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(178-180)GGC>TGC		cask-interacting protein 2 isoform a							45.0	48.0	47.0					17																	73503731		2203	4299	6502	SO:0001583	missense	57513					cytoplasm		g.chr17:73503731C>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.178G>T	17.37:g.73503731C>A	ENSP00000325355:p.Gly60Cys					CASKIN2_uc010wsc.1_5'UTR|CASKIN2_uc002jod.2_Missense_Mutation_p.G60C	p.G60C	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		4	728	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		60			ANK 1.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.178G>T	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	c	17.26	3.345303	0.61073	.	.	ENSG00000177303	ENST00000321617	T	0.65549	-0.16	4.85	3.88	0.44766	Ankyrin repeat-containing domain (4);	0.000000	0.47093	D	0.000241	T	0.78240	0.4252	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81453	-0.0926	10	0.87932	D	0	.	13.4509	0.61169	0.0:0.9242:0.0:0.0758	.	60	Q8WXE0	CSKI2_HUMAN	C	60	ENSP00000325355:G60C	ENSP00000325355:G60C	G	-	1	0	CASKIN2	71015326	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	5.885000	0.69736	1.280000	0.44463	-0.270000	0.10280	GGC		0.607	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		15	32	1	0	1.56452e-12	0.007413	2.15197e-12	15	32				
QRICH2	84074	broad.mit.edu	37	17	74288578	74288578	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:74288578G>A	ENST00000262765.5	-	4	1911	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	578	Gln-rich.							p.R578C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TGATCTGCACGAGGTTGTGCC	0.537																																							uc002jrd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(1732-1734)CGT>TGT		glutamine rich 2							174.0	149.0	157.0					17																	74288578		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74288578G>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1732C>T	17.37:g.74288578G>A	ENSP00000262765:p.Arg578Cys					QRICH2_uc010wsz.1_Missense_Mutation_p.R504C|QRICH2_uc010dgw.1_Intron	p.R578C	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			4	1912	-			578			Gln-rich.		A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.1732C>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	g	6.968	0.548648	0.13312	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.09073	3.02	4.73	0.244	0.15507	.	.	.	.	.	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	P;P	0.45044	0.849;0.849	B;B	0.38562	0.276;0.188	T	0.40079	-0.9582	9	0.59425	D	0.04	.	6.7696	0.23587	0.0:0.5689:0.2677:0.1633	.	578;578	B5MD94;Q9H0J4	.;QRIC2_HUMAN	C	578	ENSP00000262765:R578C	ENSP00000262765:R578C	R	-	1	0	QRICH2	71800173	0.000000	0.05858	0.064000	0.19789	0.006000	0.05464	-0.129000	0.10515	0.074000	0.16767	-1.358000	0.01219	CGT		0.537	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		12	82	0	0	0	0.001855	0	12	82				
SPHK1	8877	broad.mit.edu	37	17	74382929	74382929	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:74382929G>A	ENST00000545180.1	+	8	1226	c.417G>A	c.(415-417)acG>acA	p.T139T	SPHK1_ENST00000392496.3_Silent_p.T139T|SPHK1_ENST00000323374.4_Silent_p.T225T|SPHK1_ENST00000590959.1_Silent_p.T153T|SPHK1_ENST00000592299.1_Silent_p.T139T			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	139	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)	p.T225T(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	CCAACTGCACGCTATTGCTGT	0.607																																					GBM(90;966 1307 27369 33775 44498)	GBM(90;966 1307 27369 33775 44498)	uc002jrf.1		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(415-417)ACG>ACA		sphingosine kinase 1 isoform 3							78.0	78.0	78.0					17																	74382929		2203	4300	6503	SO:0001819	synonymous_variant	8877				'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity	g.chr17:74382929G>A	BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.417G>A	17.37:g.74382929G>A						SPHK1_uc002jrg.1_Silent_p.T88T|SPHK1_uc002jrh.2_Silent_p.T153T|SPHK1_uc002jrj.2_Silent_p.T225T|SPHK1_uc002jri.2_Silent_p.T139T|SPHK1_uc002jrk.3_Silent_p.T139T|uc010wtd.1_RNA	p.T139T	NM_001142602	NP_001136074	Q9NYA1	SPHK1_HUMAN			8	1226	+			139			DAGKc.		Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Silent	SNP	ENST00000545180.1	37	c.417G>A	CCDS45785.1																																																																																				0.607	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450113.1	NM_182965, NM_021972		18	193	0	0	0	0.008871	0	18	193				
RHBDF2	79651	broad.mit.edu	37	17	74473340	74473340	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:74473340G>A	ENST00000313080.4	-	8	1202	c.929C>T	c.(928-930)cCc>cTc	p.P310L	RHBDF2_ENST00000592378.1_5'Flank|RHBDF2_ENST00000389760.4_Missense_Mutation_p.P281L|RHBDF2_ENST00000591885.1_Missense_Mutation_p.P281L	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	310					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.P310L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						AGAGAGTGGGGGGGACTCAAA	0.587																																							uc002jrq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(928-930)CCC>CTC		rhomboid, veinlet-like 6 isoform 1							31.0	36.0	35.0					17																	74473340		2202	4300	6502	SO:0001583	missense	79651				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr17:74473340G>A	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.929C>T	17.37:g.74473340G>A	ENSP00000322775:p.Pro310Leu					RHBDF2_uc002jrp.1_Missense_Mutation_p.P281L|RHBDF2_uc002jrr.1_Missense_Mutation_p.P162L|RHBDF2_uc010wtf.1_Missense_Mutation_p.P281L|RHBDF2_uc002jrs.1_Missense_Mutation_p.P305L	p.P310L	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN			8	1222	-			310			Cytoplasmic (Potential).		A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	ENST00000313080.4	37	c.929C>T	CCDS32743.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001003	0.93227	.	.	ENSG00000129667	ENST00000313080;ENST00000389760;ENST00000389762	T;T	0.70164	-0.46;-0.46	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79953	0.4535	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.998	D;D;D;D	0.97110	1.0;0.995;0.996;0.987	T	0.77000	-0.2750	10	0.35671	T	0.21	-40.5944	19.4819	0.95013	0.0:0.0:1.0:0.0	.	281;256;310;281	B7Z8H4;Q6ZWP8;Q6PJF5;Q6PJF5-2	.;.;RHDF2_HUMAN;.	L	310;281;256	ENSP00000322775:P310L;ENSP00000374410:P281L	ENSP00000322775:P310L	P	-	2	0	RHBDF2	71984935	1.000000	0.71417	0.996000	0.52242	0.806000	0.45545	9.199000	0.95003	2.595000	0.87683	0.655000	0.94253	CCC		0.587	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		4	31	0	0	0	0.001168	0	4	31				
ENPP7	339221	broad.mit.edu	37	17	77705138	77705138	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:77705138C>A	ENST00000328313.5	+	1	458	c.237C>A	c.(235-237)caC>caA	p.H79Q		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7									p.H79Q(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCCCTGCCACTTCACCCTGG	0.642																																							uc002jxa.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(235-237)CAC>CAA		ectonucleotide pyrophosphatase/phosphodiesterase							33.0	30.0	31.0					17																	77705138		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77705138C>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.237C>A	17.37:g.77705138C>A	ENSP00000332656:p.His79Gln						p.H79Q	NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		1	257	+			79						Missense_Mutation	SNP	ENST00000328313.5	37	c.237C>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669189	0.67814	.	.	ENSG00000182156	ENST00000328313	T	0.76968	-1.06	4.36	3.36	0.38483	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.90235	0.6947	H	0.95850	3.73	0.51233	D	0.999914	D	0.76494	0.999	D	0.81914	0.995	D	0.91579	0.5277	10	0.87932	D	0	-43.7262	10.0501	0.42210	0.0:0.8354:0.0:0.1646	.	79	Q6UWV6	ENPP7_HUMAN	Q	79	ENSP00000332656:H79Q	ENSP00000332656:H79Q	H	+	3	2	ENPP7	75319733	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.945000	0.40273	2.244000	0.73946	0.561000	0.74099	CAC		0.642	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		6	26	1	0	1.06961e-07	0.00308	1.31504e-07	6	26				
MC2R	4158	broad.mit.edu	37	18	13885377	13885377	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:13885377C>T	ENST00000327606.3	-	2	321	c.141G>A	c.(139-141)ctG>ctA	p.L47L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	47					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.L47L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGAACACAGCCAGCAGGACGA	0.428																																					Colon(141;1584 1782 35999 48227 48692)	Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(139-141)CTG>CTA		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						89.0	83.0	85.0					18																	13885377		2203	4300	6503	SO:0001819	synonymous_variant	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885377C>T		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.141G>A	18.37:g.13885377C>T							p.L47L	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	318	-			47			Helical; Name=1; (By similarity).		A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	c.141G>A	CCDS11869.1																																																																																				0.428	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			17	57	0	0	0	0.007413	0	17	57				
POTEC	388468	broad.mit.edu	37	18	14537826	14537826	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:14537826C>A	ENST00000358970.5	-	3	783	c.784G>T	c.(784-786)Ggt>Tgt	p.G262C	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	262								p.G262C(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ATATCAGCACCATATAAGAGC	0.363																																							uc010dln.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(784-786)GGT>TGT		ANKRD26-like family B, member 2							129.0	107.0	114.0					18																	14537826		692	1591	2283	SO:0001583	missense	388468							g.chr18:14537826C>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.784G>T	18.37:g.14537826C>A	ENSP00000351856:p.Gly262Cys					POTEC_uc010xaj.1_RNA	p.G262C	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			3	1238	-			262			ANK 4.			Missense_Mutation	SNP	ENST00000358970.5	37	c.784G>T	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550992	0.27739	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	D	0.81821	-1.54	1.4	-1.78	0.07957	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.89522	0.6739	M	0.93720	3.45	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78846	-0.2043	9	0.87932	D	0	.	4.8411	0.13491	0.0:0.4807:0.0:0.5193	.	262	B2RU33	POTEC_HUMAN	C	262	ENSP00000351856:G262C	ENSP00000351856:G262C	G	-	1	0	POTEC	14527826	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-1.013000	0.03645	-0.583000	0.05921	0.194000	0.17425	GGT		0.363	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		9	40	1	0	7.48243e-07	0.006214	8.88487e-07	9	40				
ANKRD30B	374860	broad.mit.edu	37	18	14799120	14799120	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:14799120C>A	ENST00000358984.4	+	21	2230	c.2050C>A	c.(2050-2052)Ctt>Att	p.L684I	ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	684								p.L684I(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAATGATGGTCTTCTGAAGGT	0.279																																							uc010dlo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2050-2052)CTT>ATT		ankyrin repeat domain 30B							85.0	61.0	68.0					18																	14799120		692	1586	2278	SO:0001583	missense	374860							g.chr18:14799120C>A	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.2050C>A	18.37:g.14799120C>A	ENSP00000351875:p.Leu684Ile					ANKRD30B_uc010xak.1_RNA	p.L684I	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			21	2230	+			735					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.2050C>A	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	0.824	-0.747461	0.03065	.	.	ENSG00000180777	ENST00000358984	T	0.06068	3.35	0.968	0.968	0.19680	.	.	.	.	.	T	0.04407	0.0121	N	0.03608	-0.345	0.09310	N	1	P	0.37398	0.593	P	0.48114	0.567	T	0.47407	-0.9120	9	0.27785	T	0.31	.	5.3184	0.15868	0.0:1.0:0.0:0.0	.	684	F8WAG3	.	I	684	ENSP00000351875:L684I	ENSP00000351875:L684I	L	+	1	0	ANKRD30B	14789120	0.045000	0.20229	0.001000	0.08648	0.002000	0.02628	0.600000	0.24104	0.825000	0.34637	0.384000	0.25694	CTT		0.279	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		11	61	1	0	5.50884e-06	0.001368	6.33193e-06	11	61				
LAMA3	3909	broad.mit.edu	37	18	21513790	21513790	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:21513790T>G	ENST00000313654.9	+	67	8994	c.8753T>G	c.(8752-8754)cTc>cGc	p.L2918R	LAMA3_ENST00000399516.3_Missense_Mutation_p.L2862R|LAMA3_ENST00000269217.6_Missense_Mutation_p.L1309R|LAMA3_ENST00000587184.1_Missense_Mutation_p.L1253R|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2918	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.L2918R(1)|p.L1309R(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGTAACTCTCTCAAGAGAGAT	0.428																																							uc002kuq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(8752-8754)CTC>CGC		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						113.0	99.0	104.0					18																	21513790		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21513790T>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8753T>G	18.37:g.21513790T>G	ENSP00000324532:p.Leu2918Arg					LAMA3_uc002kur.2_Missense_Mutation_p.L2862R|LAMA3_uc002kus.3_Missense_Mutation_p.L1309R|LAMA3_uc002kut.3_Missense_Mutation_p.L1253R	p.L2918R	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			67	8839	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2918			Laminin G-like 3.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.8753T>G	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	T	1.692	-0.503689	0.04261	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.17370	2.29;2.28;3.86	6.07	0.728	0.18260	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.04092	0.0114	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.29590	0.207;0.25;0.0;0.001	B;B;B;B	0.21546	0.035;0.032;0.003;0.003	T	0.34725	-0.9817	9	0.15952	T	0.53	.	0.5474	0.00656	0.2742:0.3388:0.134:0.253	.	1253;1309;2862;2918	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	R	2918;2862;1309	ENSP00000324532:L2918R;ENSP00000382432:L2862R;ENSP00000269217:L1309R	ENSP00000269217:L1309R	L	+	2	0	LAMA3	19767788	0.004000	0.15560	0.082000	0.20525	0.438000	0.31896	-0.003000	0.12901	0.095000	0.17434	-0.242000	0.12053	CTC		0.428	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		19	68	0	0	0	0.007413	0	19	68				
RNF138	51444	broad.mit.edu	37	18	29709131	29709131	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:29709131C>G	ENST00000261593.3	+	8	1177	c.719C>G	c.(718-720)tCt>tGt	p.S240C	RNF138_ENST00000257190.5_Missense_Mutation_p.S146C	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	240					protein ubiquitination (GO:0016567)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	ligase activity (GO:0016874)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.S240C(1)|p.S240F(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						GTTGAAGAATCTTTTCAAGTA	0.368																																							uc002kxg.2		NA																	2	Substitution - Missense(2)		lung(1)|skin(1)		0						c.(718-720)TCT>TGT		ring finger protein 138 isoform 1							147.0	142.0	144.0					18																	29709131		2203	4300	6503	SO:0001583	missense	51444				Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding	g.chr18:29709131C>G	AF162680	CCDS11903.1, CCDS11904.1	18q12.1	2013-01-28	2012-02-23		ENSG00000134758	ENSG00000134758		"""RING-type (C3HC4) zinc fingers"""	17765	protein-coding gene	gene with protein product	"""nemo-like kinase associated ring finger protein"""		"""ring finger protein 138"""			22155992, 16714285	Standard	NM_016271		Approved	STRIN, NARF	uc021uip.2	Q8WVD3	OTTHUMG00000132265	ENST00000261593.3:c.719C>G	18.37:g.29709131C>G	ENSP00000261593:p.Ser240Cys					RNF138_uc002kxh.2_Missense_Mutation_p.S146C	p.S240C	NM_016271	NP_057355	Q8WVD3	RN138_HUMAN			8	1158	+			240					B2RE17|Q9H8K2|Q9UF87|Q9UKI6	Missense_Mutation	SNP	ENST00000261593.3	37	c.719C>G	CCDS11903.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481463	0.63849	.	.	ENSG00000134758	ENST00000261593;ENST00000257190	D	0.90732	-2.72	5.38	5.38	0.77491	.	0.325444	0.30791	N	0.008861	D	0.95133	0.8423	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.83275	0.996;0.879	D	0.95362	0.8456	10	0.87932	D	0	-1.7501	17.6794	0.88238	0.0:1.0:0.0:0.0	.	146;240	Q8WVD3-2;Q8WVD3	.;RN138_HUMAN	C	240;146	ENSP00000261593:S240C	ENSP00000257190:S146C	S	+	2	0	RNF138	27963129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.841000	0.62824	2.689000	0.91719	0.655000	0.94253	TCT		0.368	RNF138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255352.2	NM_016271		11	79	0	0	0	0.00245	0	11	79				
ASXL3	80816	broad.mit.edu	37	18	31324221	31324221	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:31324221C>A	ENST00000269197.5	+	12	4409	c.4409C>A	c.(4408-4410)cCg>cAg	p.P1470Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1470					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.P1470Q(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CGATCAATTCCGTGTAAAGTC	0.517											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010dmg.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(4408-4410)CCG>CAG		additional sex combs like 3							75.0	82.0	80.0					18																	31324221		2194	4297	6491	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324221C>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.4409C>A	18.37:g.31324221C>A	ENSP00000269197:p.Pro1470Gln		OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823	ASXL3_uc002kxq.2_Missense_Mutation_p.P1177Q	p.P1470Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	4464	+			1470					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.4409C>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.730961	0.69074	.	.	ENSG00000141431	ENST00000269197	T	0.34072	1.38	6.17	6.17	0.99709	.	.	.	.	.	T	0.52693	0.1750	L	0.29908	0.895	0.50313	D	0.999861	D	0.89917	1.0	D	0.91635	0.999	T	0.50651	-0.8803	9	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1470	Q9C0F0	ASXL3_HUMAN	Q	1470	ENSP00000269197:P1470Q	ENSP00000269197:P1470Q	P	+	2	0	ASXL3	29578219	0.997000	0.39634	0.301000	0.25044	0.949000	0.60115	5.677000	0.68142	2.941000	0.99782	0.655000	0.94253	CCG		0.517	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			17	64	1	0	1.03484e-13	0.005524	1.45309e-13	17	64				
SLC39A6	25800	broad.mit.edu	37	18	33706788	33706788	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:33706788G>A	ENST00000590986.1	-	2	472	c.183C>T	c.(181-183)ttC>ttT	p.F61F	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000269187.5_Silent_p.F61F			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	61					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.F61F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CATAGCGGTAGAAAAGCTGTT	0.368																																							uc010dmy.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(181-183)TTC>TTT		solute carrier family 39 (zinc transporter),							134.0	126.0	129.0					18																	33706788		1855	4100	5955	SO:0001819	synonymous_variant	25800					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	g.chr18:33706788G>A	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.183C>T	18.37:g.33706788G>A						SLC39A6_uc002kzj.2_Intron	p.F61F	NM_012319	NP_036451	Q13433	S39A6_HUMAN			2	473	-			61			Extracellular (Potential).		B4DR49|B4E224|Q8IXR3|Q96HP5	Silent	SNP	ENST00000590986.1	37	c.183C>T	CCDS42428.1																																																																																				0.368	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			41	98	0	0	0	0.00361	0	41	98				
SETBP1	26040	broad.mit.edu	37	18	42618459	42618459	+	Missense_Mutation	SNP	G	G	T	rs529611461	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:42618459G>T	ENST00000282030.5	+	5	4306	c.4010G>T	c.(4009-4011)aGt>aTt	p.S1337I		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1337						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S1337I(1)|p.S1283I(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGGATGCCAAGTCCCCACTTA	0.468									Schinzel-Giedion syndrome																														uc010dni.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(4009-4011)AGT>ATT		SET binding protein 1 isoform a							124.0	110.0	115.0					18																	42618459		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42618459G>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4010G>T	18.37:g.42618459G>T	ENSP00000282030:p.Ser1337Ile						p.S1337I	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	5	4306	+			1337					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.4010G>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008270	0.75046	.	.	ENSG00000152217	ENST00000282030	T	0.70869	-0.52	5.84	5.84	0.93424	.	0.148261	0.64402	D	0.000011	T	0.70710	0.3255	L	0.27053	0.805	0.33069	D	0.53507	D	0.58620	0.983	P	0.56700	0.804	T	0.78630	-0.2129	10	0.72032	D	0.01	.	13.3488	0.60589	0.0718:0.0:0.9282:0.0	.	1337	Q9Y6X0	SETBP_HUMAN	I	1337	ENSP00000282030:S1337I	ENSP00000282030:S1337I	S	+	2	0	SETBP1	40872457	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.035000	0.64158	2.763000	0.94921	0.650000	0.86243	AGT		0.468	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		14	61	1	0	6.31663e-08	0.003163	7.78376e-08	14	61				
SLC14A1	6563	broad.mit.edu	37	18	43314340	43314340	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:43314340T>C	ENST00000321925.4	+	5	675	c.443T>C	c.(442-444)cTc>cCc	p.L148P	SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000535474.1_Missense_Mutation_p.L16P|SLC14A1_ENST00000415427.3_Missense_Mutation_p.L204P|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000502059.2_Missense_Mutation_p.L40P|SLC14A1_ENST00000436407.3_Missense_Mutation_p.L204P|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000589700.1_Missense_Mutation_p.L148P|SLC14A1_ENST00000402943.2_Missense_Mutation_p.L43P|SLC14A1_ENST00000586142.1_Missense_Mutation_p.L148P	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	148					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)	p.L148P(1)|p.L204P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGGCTGTTACTCCCTGTATGT	0.433																																							uc010xcn.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(442-444)CTC>CCC		solute carrier family 14 (urea transporter),							210.0	188.0	196.0					18																	43314340		2203	4300	6503	SO:0001583	missense	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43314340T>C	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.443T>C	18.37:g.43314340T>C	ENSP00000318546:p.Leu148Pro					SLC14A1_uc010dnk.2_Missense_Mutation_p.L204P|SLC14A1_uc002lbf.3_Missense_Mutation_p.L148P|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.L43P|SLC14A1_uc002lbh.3_Missense_Mutation_p.L40P|SLC14A1_uc002lbi.3_Missense_Mutation_p.L16P|SLC14A1_uc002lbj.3_Missense_Mutation_p.L204P|SLC14A1_uc002lbk.3_Missense_Mutation_p.L148P	p.L148P	NM_001146036	NP_001139508	Q13336	UT1_HUMAN			6	762	+			148			Helical; (Potential).		A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	c.443T>C	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	T	8.056	0.767011	0.15983	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.46	5.46	0.80206	.	0.457966	0.21970	N	0.066468	T	0.54647	0.1871	M	0.79475	2.455	0.80722	D	1	B;B;B	0.26147	0.003;0.036;0.143	B;B;B	0.35971	0.01;0.215;0.213	T	0.58160	-0.7685	10	0.62326	D	0.03	-0.9123	11.5021	0.50444	0.0:0.0721:0.0:0.9279	.	204;40;148	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	P	148;204;40;43;16;204	ENSP00000318546:L148P;ENSP00000412309:L204P;ENSP00000442180:L40P;ENSP00000385320:L43P;ENSP00000441998:L16P;ENSP00000390637:L204P	ENSP00000318546:L148P	L	+	2	0	SLC14A1	41568338	0.635000	0.27199	0.009000	0.14445	0.006000	0.05464	4.548000	0.60718	2.079000	0.62486	0.482000	0.46254	CTC		0.433	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		27	67	0	0	0	0.007291	0	27	67				
SERPINB13	5275	broad.mit.edu	37	18	61264336	61264336	+	Missense_Mutation	SNP	G	G	T	rs548901538		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:61264336G>T	ENST00000344731.5	+	8	1017	c.915G>T	c.(913-915)atG>atT	p.M305I	SERPINB13_ENST00000269489.5_Missense_Mutation_p.M253I	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	305					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.M305I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCATGGGGATGGGCGATGCCT	0.562																																							uc002ljc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(913-915)ATG>ATT		serine (or cysteine) proteinase inhibitor, clade							91.0	84.0	86.0					18																	61264336		2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61264336G>T	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.915G>T	18.37:g.61264336G>T	ENSP00000341584:p.Met305Ile					SERPINB13_uc002ljd.2_Missense_Mutation_p.M169I|SERPINB13_uc010xep.1_Missense_Mutation_p.M314I|SERPINB13_uc010xeq.1_Missense_Mutation_p.M126I|SERPINB13_uc010xer.1_Missense_Mutation_p.M126I	p.M305I	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN			8	1083	+			305					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.915G>T	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525252	0.27299	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	D;D	0.83075	-1.68;-1.68	5.3	-0.234	0.13074	Serpin domain (3);	1.642210	0.03351	N	0.196170	T	0.68100	0.2964	N	0.11284	0.12	0.09310	N	1	B;B;B	0.18863	0.001;0.031;0.0	B;B;B	0.19148	0.019;0.024;0.001	T	0.53837	-0.8382	10	0.48119	T	0.1	.	4.6985	0.12815	0.1403:0.2094:0.5378:0.1125	.	314;223;305	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	I	253;223;305	ENSP00000269489:M253I;ENSP00000341584:M305I	ENSP00000269489:M253I	M	+	3	0	SERPINB13	59415316	0.619000	0.27059	0.000000	0.03702	0.005000	0.04900	1.487000	0.35540	-0.694000	0.05113	-1.151000	0.01829	ATG		0.562	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		17	108	1	0	5.3912e-06	0.006122	6.22996e-06	17	108				
SERPINB3	6317	broad.mit.edu	37	18	61323236	61323236	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:61323236T>A	ENST00000283752.5	-	8	971	c.828A>T	c.(826-828)agA>agT	p.R276S	SERPINB3_ENST00000332821.8_Missense_Mutation_p.R224S|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	276					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)	p.R276S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CACGTGTCTCTCTCATATTCT	0.403																																							uc002lji.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(826-828)AGA>AGT		serine (or cysteine) proteinase inhibitor, clade							133.0	115.0	121.0					18																	61323236		2203	4300	6503	SO:0001583	missense	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61323236T>A	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.828A>T	18.37:g.61323236T>A	ENSP00000283752:p.Arg276Ser					SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Missense_Mutation_p.R224S	p.R276S	NM_006919	NP_008850	P29508	SPB3_HUMAN			8	972	-			276					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.828A>T	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	T	0.453	-0.892683	0.02491	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.83914	-1.78;-1.78	3.07	-6.15	0.02105	Serpin domain (3);	3.350280	0.00924	N	0.002633	T	0.64962	0.2646	N	0.17248	0.465	0.09310	N	1	B;B	0.15473	0.013;0.002	B;B	0.16722	0.016;0.01	T	0.57682	-0.7769	10	0.15066	T	0.55	.	1.8387	0.03145	0.1435:0.2472:0.2971:0.3122	.	224;276	P29508-2;P29508	.;SPB3_HUMAN	S	276;224	ENSP00000283752:R276S;ENSP00000329498:R224S	ENSP00000283752:R276S	R	-	3	2	SERPINB3	59474216	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-11.946000	0.00002	-4.123000	0.00071	-0.685000	0.03747	AGA		0.403	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		38	31	0	0	0	0.007835	0	38	31				
SERPINB11	89778	broad.mit.edu	37	18	61390485	61390485	+	RNA	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:61390485C>G	ENST00000382749.5	+	0	1276				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000536691.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T142R(1)|p.T344R(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GAAGAGGGCACGGAGGCAGCA	0.498																																					Ovarian(27;496 784 5942 8975 23930)	Ovarian(27;496 784 5942 8975 23930)	uc002ljk.3		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1030-1032)ACG>AGG		serpin peptidase inhibitor, clade B, member 11							64.0	63.0	63.0					18																	61390485		2202	4300	6502			89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61390485C>G			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61390485C>G						SERPINB11_uc010xes.1_Missense_Mutation_p.T169R|SERPINB11_uc010dqd.2_Intron|SERPINB11_uc002ljj.3_Missense_Mutation_p.T230R|SERPINB11_uc010dqe.2_Missense_Mutation_p.T143R|SERPINB11_uc010dqf.2_Missense_Mutation_p.T142R	p.T344R	NM_080475	NP_536723	Q96P15	SPB11_HUMAN			9	1093	+		Esophageal squamous(42;0.129)	344			RCL (By similarity).		A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	ENST00000382749.5	37	c.1031C>G		.	.	.	.	.	.	.	.	.	.	C	22.1	4.247047	0.80024	.	.	ENSG00000206072	ENST00000544088;ENST00000538847;ENST00000536691	D;D;D	0.87179	-2.05;-2.22;-2.05	5.05	5.05	0.67936	Serpin domain (3);	0.000000	0.56097	D	0.000022	D	0.95755	0.8619	H	0.97465	4.01	0.34010	D	0.651324	D;D;D;D	0.89917	1.0;0.99;1.0;1.0	D;P;D;D	0.97110	0.999;0.865;1.0;0.999	D	0.99925	1.1277	10	0.87932	D	0	.	14.2143	0.65783	0.0:0.8387:0.1613:0.0	.	169;142;257;344	F5GWT8;F5GY69;Q96P15-2;Q96P15	.;.;.;SPB11_HUMAN	R	344;142;169	ENSP00000441497:T344R;ENSP00000440795:T142R;ENSP00000441708:T169R	ENSP00000421854:T344R	T	+	2	0	SERPINB11	59541465	0.998000	0.40836	0.896000	0.35187	0.939000	0.58152	3.732000	0.55021	2.488000	0.83962	0.655000	0.94253	ACG		0.498	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		28	25	0	0	0	0.002445	0	28	25				
CDH19	28513	broad.mit.edu	37	18	64178899	64178899	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:64178899C>A	ENST00000262150.2	-	10	1774	c.1482G>T	c.(1480-1482)gtG>gtT	p.V494V	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	603	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V494V(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CATCTCTATCCACTGCACTGA	0.323																																							uc002lkc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1480-1482)GTG>GTT		cadherin 19, type 2 preproprotein							86.0	86.0	86.0					18																	64178899		2203	4298	6501	SO:0001819	synonymous_variant	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64178899C>A	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1482G>T	18.37:g.64178899C>A						CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Intron	p.V494V	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			10	1620	-		Esophageal squamous(42;0.0132)	494			Cadherin 5.|Extracellular (Potential).		O15098	Silent	SNP	ENST00000262150.2	37	c.1482G>T	CCDS11994.1																																																																																				0.323	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		10	33	1	0	0.00136819	0.001368	0.00145751	10	33				
RTTN	25914	broad.mit.edu	37	18	67718785	67718785	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:67718785C>A	ENST00000255674.6	-	39	5472		c.e39-1		RTTN_ENST00000454359.1_Splice_Site	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin						determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.?(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AACTCTTTATCTATAAAATTA	0.338																																							uc002lkp.2		NA																	1	Unknown(1)		lung(1)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.e39-1		rotatin							37.0	35.0	36.0					18																	67718785		1814	4077	5891	SO:0001630	splice_region_variant	25914						binding	g.chr18:67718785C>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.5186-1G>T	18.37:g.67718785C>A						RTTN_uc002lko.2_Splice_Site|RTTN_uc010xfb.1_Splice_Site_p.D817_splice|RTTN_uc010dqp.2_Splice_Site	p.D1729_splice	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			39	5254	-		Esophageal squamous(42;0.129)						Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Splice_Site	SNP	ENST00000255674.6	37	c.5186_splice	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488677	0.64074	.	.	ENSG00000176225	ENST00000255674	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6585	0.85235	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RTTN	65869765	1.000000	0.71417	0.662000	0.29724	0.782000	0.44232	4.562000	0.60816	2.665000	0.90641	0.650000	0.86243	.		0.338	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630	Intron	12	8	1	0	9.31168e-06	0.001855	1.06462e-05	12	8				
NETO1	81832	broad.mit.edu	37	18	70451078	70451078	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:70451078C>A	ENST00000327305.6	-	7	1360	c.703G>T	c.(703-705)Gct>Tct	p.A235S	NETO1_ENST00000583169.1_Missense_Mutation_p.A235S|NETO1_ENST00000299430.2_Missense_Mutation_p.A234S	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	235	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.A235S(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCATACACAGCCACAAAATTC	0.393																																							uc002lkw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(703-705)GCT>TCT		neuropilin- and tolloid-like protein 1 isoform 3							138.0	128.0	131.0					18																	70451078		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70451078C>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.703G>T	18.37:g.70451078C>A	ENSP00000313088:p.Ala235Ser					NETO1_uc002lkx.1_Missense_Mutation_p.A234S|NETO1_uc002lky.1_Missense_Mutation_p.A235S	p.A235S	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	7	987	-		Esophageal squamous(42;0.129)	235			CUB 2.|Extracellular (Potential).		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.703G>T	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504838	0.85176	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.17691	2.26;2.26	5.54	5.54	0.83059	CUB (5);	0.000000	0.64402	D	0.000014	T	0.44561	0.1299	M	0.70275	2.135	0.80722	D	1	D;P	0.67145	0.996;0.768	D;P	0.77557	0.99;0.584	T	0.26815	-1.0092	10	0.62326	D	0.03	-19.584	19.8487	0.96730	0.0:1.0:0.0:0.0	.	234;235	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	S	235;234	ENSP00000313088:A235S;ENSP00000299430:A234S	ENSP00000299430:A234S	A	-	1	0	NETO1	68602058	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.624000	0.83124	2.748000	0.94277	0.650000	0.86243	GCT		0.393	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		92	88	1	0	1.53058e-52	0.00361	2.5797e-52	92	88				
ZNF407	55628	broad.mit.edu	37	18	72353080	72353080	+	Splice_Site	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:72353080T>C	ENST00000299687.5	+	2	4802		c.e2+2		ZNF407_ENST00000582337.1_Splice_Site|ZNF407_ENST00000577538.1_Splice_Site|ZNF407_ENST00000309902.6_Splice_Site	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407						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.?(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGTCTGTGGGTGAGTAAATTG	0.458																																							uc002llw.2		NA																	2	Unknown(2)		lung(2)	ovary(2)	2						c.e2+2		zinc finger protein 407 isoform 1							158.0	157.0	158.0					18																	72353080		2046	4202	6248	SO:0001630	splice_region_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72353080T>C	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.4802+2T>C	18.37:g.72353080T>C						ZNF407_uc010xfc.1_Splice_Site_p.G1601_splice|ZNF407_uc010dqu.1_Splice_Site_p.G1601_splice	p.G1601_splice	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	2	4859	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)						B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Splice_Site	SNP	ENST00000299687.5	37	c.4802_splice	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.716586	0.68844	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1811	0.72960	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF407	70482068	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.655000	0.83696	2.541000	0.85698	0.655000	0.94253	.		0.458	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	Intron	33	70	0	0	0	0.002445	0	33	70				
NFATC1	4772	broad.mit.edu	37	18	77221367	77221367	+	Splice_Site	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:77221367G>T	ENST00000427363.2	+	7	1959		c.e7+1		NFATC1_ENST00000318065.5_Splice_Site|NFATC1_ENST00000542384.1_Splice_Site|NFATC1_ENST00000592223.1_Splice_Site|NFATC1_ENST00000397790.2_Splice_Site|NFATC1_ENST00000587635.1_Splice_Site|NFATC1_ENST00000591814.1_Splice_Site|NFATC1_ENST00000329101.4_Splice_Site|NFATC1_ENST00000586434.1_Splice_Site|NFATC1_ENST00000545796.1_Splice_Site|NFATC1_ENST00000253506.5_Splice_Site			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1						calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GTGCAAGCCGGTGAGTGCCTT	0.632																																					GBM(151;1210 2593 28719 45011)	GBM(151;1210 2593 28719 45011)	uc010xfg.1		NA																	1	Unknown(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.e7+1		nuclear factor of activated T-cells, cytosolic							59.0	54.0	56.0					18																	77221367		2203	4300	6503	SO:0001630	splice_region_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77221367G>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1959+1G>T	18.37:g.77221367G>T						NFATC1_uc002lnc.1_Splice_Site_p.P653_splice|NFATC1_uc010xff.1_Splice_Site_p.R625_splice|NFATC1_uc002lnd.2_Splice_Site_p.P653_splice|NFATC1_uc002lne.2_Splice_Site_p.P181_splice|NFATC1_uc010xfh.1_Splice_Site_p.P653_splice|NFATC1_uc010xfi.1_Splice_Site_p.P640_splice|NFATC1_uc010xfj.1_Splice_Site_p.P181_splice|NFATC1_uc002lnf.2_Splice_Site_p.P640_splice|NFATC1_uc002lng.2_Splice_Site_p.P640_splice|NFATC1_uc010xfk.1_Splice_Site_p.P640_splice	p.P653_splice	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	7	2412	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)						B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Splice_Site	SNP	ENST00000427363.2	37	c.1959_splice		.	.	.	.	.	.	.	.	.	.	g	12.88	2.071320	0.36566	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1088	0.86670	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFATC1	75322355	1.000000	0.71417	0.917000	0.36280	0.062000	0.15995	8.492000	0.90471	2.093000	0.63338	0.454000	0.30748	.		0.632	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390	Intron	9	28	1	0	1.3612e-06	0.003163	1.59871e-06	9	28				
GIPC3	126326	broad.mit.edu	37	19	3586949	3586950	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:3586949_3586950CC>AG	ENST00000322315.5	+	3	594_595	c.549_550CC>AG	c.(547-552)tcCCag>tcAGag	p.Q184E		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	184	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.							p.Q184E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCAAGTCCCAGCCCTTCAC	0.658											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002lyd.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(547-552)TCCCAG>TCAGAG		GIPC PDZ domain containing family, member 3																																				SO:0001583	missense	126326							g.chr19:3586949_3586950CC>AG	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		Exception_encountered	19.37:g.3586949_3586950delinsAG	ENSP00000319254:p.Gln184Glu		OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	612		p.Q184E	NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	3	576_577	+			184			PDZ.		O75227	Missense_Mutation	DNP	ENST00000322315.5	37	c.549_550CC>AG	CCDS32871.1																																																																																				0.658	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		3	31	0	0	0	0.004672	0	3	31				
TJP3	27134	broad.mit.edu	37	19	3735930	3735930	+	Missense_Mutation	SNP	G	G	A	rs565934761		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:3735930G>A	ENST00000541714.2	+	10	1586	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H	TJP3_ENST00000539908.2_Missense_Mutation_p.R339H|TJP3_ENST00000262968.9_Missense_Mutation_p.R408H|TJP3_ENST00000382008.3_Missense_Mutation_p.R389H|TJP3_ENST00000589378.1_Missense_Mutation_p.R384H|TJP3_ENST00000587686.1_Missense_Mutation_p.R394H	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	375					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)		p.R408H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGAGGATCGTGGGTATGTA	0.522																																							uc010xhv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1222-1224)CGT>CAT		tight junction protein 3							118.0	109.0	112.0					19																	3735930		2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3735930G>A	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1124G>A	19.37:g.3735930G>A	ENSP00000439278:p.Arg375His					TJP3_uc010xhs.1_Missense_Mutation_p.R375H|TJP3_uc010xht.1_Missense_Mutation_p.R339H|TJP3_uc010xhu.1_Missense_Mutation_p.R384H|TJP3_uc010xhw.1_Missense_Mutation_p.R394H	p.R408H	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1223	+			389					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.1223G>A	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	5.043	0.193638	0.09599	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	4.51	0.992	0.19819	PDZ/DHR/GLGF (1);	1.250130	0.05371	N	0.535482	T	0.28433	0.0703	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.11235	0.003;0.001;0.002;0.004	B;B;B;B	0.10450	0.003;0.005;0.001;0.003	T	0.23583	-1.0184	10	0.44086	T	0.13	.	5.3729	0.16150	0.4145:0.0:0.5855:0.0	.	394;408;389;375	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	H	375;339;389;408	ENSP00000439278:R375H;ENSP00000439991:R339H;ENSP00000371438:R389H;ENSP00000262968:R408H	ENSP00000262968:R408H	R	+	2	0	TJP3	3686930	0.000000	0.05858	0.033000	0.17914	0.067000	0.16453	-0.037000	0.12164	0.482000	0.27582	0.511000	0.50034	CGT		0.522	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			22	179	0	0	0	0.002299	0	22	179				
PNPLA6	10908	broad.mit.edu	37	19	7625548	7625548	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:7625548G>T	ENST00000221249.6	+	32	4031	c.3600G>T	c.(3598-3600)caG>caT	p.Q1200H	PNPLA6_ENST00000545201.2_Missense_Mutation_p.Q1173H|PNPLA6_ENST00000450331.3_Missense_Mutation_p.Q1200H|PNPLA6_ENST00000600737.1_Missense_Mutation_p.Q1238H|PNPLA6_ENST00000414982.3_Missense_Mutation_p.Q1248H	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1239					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.Q1200H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGGGCTACCAGTACGGGAAGG	0.577																																							uc010xjq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3742-3744)CAG>CAT		neuropathy target esterase isoform b							77.0	61.0	66.0					19																	7625548		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7625548G>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3600G>T	19.37:g.7625548G>T	ENSP00000221249:p.Gln1200His					PNPLA6_uc002mgq.1_Missense_Mutation_p.Q1200H|PNPLA6_uc010xjp.1_Missense_Mutation_p.Q1173H|PNPLA6_uc002mgr.1_Missense_Mutation_p.Q1200H|PNPLA6_uc002mgs.2_Missense_Mutation_p.Q1238H|PNPLA6_uc002mgt.1_RNA	p.Q1248H	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN			31	3939	+			1239			Cytoplasmic (Potential).		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.3744G>T	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	g	16.11	3.029582	0.54790	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.95	4.95	0.65309	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.199689	0.43579	D	0.000546	D	0.86838	0.6029	M	0.77486	2.375	0.47511	D	0.999449	D;D;D;P	0.76494	0.994;0.977;0.999;0.581	P;D;D;B	0.67548	0.897;0.93;0.952;0.135	D	0.86445	0.1769	10	0.37606	T	0.19	-24.5424	15.7518	0.77992	0.0:0.0:1.0:0.0	.	1239;1173;1238;1200	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	H	1200;1173;1248;1200	ENSP00000221249:Q1200H;ENSP00000443323:Q1173H;ENSP00000407509:Q1248H;ENSP00000394348:Q1200H	ENSP00000221249:Q1200H	Q	+	3	2	PNPLA6	7531548	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	4.756000	0.62205	2.305000	0.77605	0.549000	0.68633	CAG		0.577	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		15	29	1	0	8.00594e-06	0.007413	9.19232e-06	15	29				
FBN3	84467	broad.mit.edu	37	19	8130912	8130912	+	Missense_Mutation	SNP	C	C	A	rs139098536		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:8130912C>A	ENST00000600128.1	-	64	8735	c.8321G>T	c.(8320-8322)cGg>cTg	p.R2774L	FBN3_ENST00000270509.2_Missense_Mutation_p.R2774L|FBN3_ENST00000601739.1_Missense_Mutation_p.R2774L			Q75N90	FBN3_HUMAN	fibrillin 3	2774						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R2774L(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACCTCCAGCCGGTAGGTTCC	0.677																																							uc002mjf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(8320-8322)CGG>CTG		fibrillin 3 precursor							37.0	40.0	39.0					19																	8130912		2202	4297	6499	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8130912C>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8321G>T	19.37:g.8130912C>A	ENSP00000470498:p.Arg2774Leu					FBN3_uc002mje.2_Missense_Mutation_p.R570L	p.R2774L	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			63	8342	-			2774					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.8321G>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	8.391	0.839699	0.16891	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.87029	-2.2	4.55	-0.394	0.12434	.	0.739374	0.12731	U	0.443827	T	0.73613	0.3609	N	0.22421	0.69	0.24134	N	0.995758	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.58515	-0.7623	10	0.37606	T	0.19	.	3.819	0.08827	0.1372:0.4926:0.1402:0.2301	.	2774;837	Q75N90;Q6ZNB8	FBN3_HUMAN;.	L	2774;837	ENSP00000270509:R2774L	ENSP00000270509:R2774L	R	-	2	0	FBN3	8036912	0.000000	0.05858	0.987000	0.45799	0.104000	0.19210	-0.211000	0.09332	-0.062000	0.13088	-0.238000	0.12139	CGG		0.677	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		20	46	1	0	5.35047e-06	0.00333	6.18954e-06	20	46				
FBN3	84467	broad.mit.edu	37	19	8194190	8194190	+	Silent	SNP	G	G	T	rs150195254		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:8194190G>T	ENST00000600128.1	-	17	2518	c.2104C>A	c.(2104-2106)Cgg>Agg	p.R702R	FBN3_ENST00000270509.2_Silent_p.R702R|FBN3_ENST00000601739.1_Silent_p.R702R			Q75N90	FBN3_HUMAN	fibrillin 3	702	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R702R(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TAGCTGCCCCGAAGGTTCTCG	0.617																																							uc002mjf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(2104-2106)CGG>AGG		fibrillin 3 precursor							59.0	51.0	53.0					19																	8194190		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8194190G>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2104C>A	19.37:g.8194190G>T							p.R702R	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			16	2125	-			702			EGF-like 8; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.2104C>A	CCDS12196.1																																																																																				0.617	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		16	43	1	0	1.50039e-11	0.001882	2.01738e-11	16	43				
MUC16	94025	broad.mit.edu	37	19	9012535	9012535	+	Splice_Site	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:9012535G>T	ENST00000397910.4	-	35	38874	c.38671C>A	c.(38671-38673)Ctt>Att	p.L12891I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12893	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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.L43I(1)|p.L12891I(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						ATGGGACCAAGCTGTGGAGGA	0.562																																							uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(38671-38673)CTT>ATT		mucin 16							217.0	196.0	203.0					19																	9012535		2089	4215	6304	SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9012535G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38671-1C>A	19.37:g.9012535G>T						MUC16_uc010xki.1_Intron	p.L12891I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			35	38875	-			12893	Missing (in Ref. 3; AAK74120).		SEA 6.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38671C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	12.39	1.923106	0.33908	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.66460	-0.21	2.95	2.95	0.34219	.	.	.	.	.	D	0.82527	0.5056	M	0.89658	3.05	.	.	.	D	0.71674	0.998	D	0.79108	0.992	D	0.87826	0.2641	8	0.87932	D	0	-17.373	10.003	0.41940	0.0:0.0:1.0:0.0	.	12891	B5ME49	.	I	12891;44	ENSP00000381008:L12891I	ENSP00000381008:L12891I	L	-	1	0	MUC16	8873535	1.000000	0.71417	0.176000	0.23000	0.008000	0.06430	4.607000	0.61133	1.594000	0.50039	0.313000	0.20887	CTT		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Missense_Mutation	62	74	1	0	3.61411e-23	0.00361	5.69897e-23	62	74				
MUC16	94025	broad.mit.edu	37	19	9046404	9046404	+	Missense_Mutation	SNP	C	C	T	rs551319234		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:9046404C>T	ENST00000397910.4	-	5	35430	c.35227G>A	c.(35227-35229)Gtg>Atg	p.V11743M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11745	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.V7376M(1)|p.V11743M(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						TGTGAAGTCACCATCTCTGGT	0.502																																							uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(35227-35229)GTG>ATG		mucin 16							132.0	125.0	127.0					19																	9046404		2000	4179	6179	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046404C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35227G>A	19.37:g.9046404C>T	ENSP00000381008:p.Val11743Met						p.V11743M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	35431	-			11745			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35227G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	8.233	0.805050	0.16467	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	3.55	-4.06	0.03986	.	.	.	.	.	T	0.02193	0.0068	N	0.17474	0.49	.	.	.	B	0.32245	0.361	B	0.34931	0.192	T	0.43972	-0.9358	8	0.87932	D	0	.	1.396	0.02261	0.14:0.3463:0.2759:0.2377	.	11743	B5ME49	.	M	11743	ENSP00000381008:V11743M	ENSP00000381008:V11743M	V	-	1	0	MUC16	8907404	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-0.848000	0.04326	-0.658000	0.05366	-0.322000	0.08575	GTG		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		49	41	0	0	0	0.00361	0	49	41				
MUC16	94025	broad.mit.edu	37	19	9046491	9046491	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:9046491C>T	ENST00000397910.4	-	5	35343	c.35140G>A	c.(35140-35142)Gat>Aat	p.D11714N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11716	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.D11714Y(1)|p.D7347N(1)|p.D7347Y(1)|p.D11714N(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						GGTGTGGCATCTGGACTACTA	0.507																																							uc002mkp.2		NA																	4	Substitution - Missense(4)		large_intestine(2)|lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(35140-35142)GAT>AAT		mucin 16							131.0	125.0	127.0					19																	9046491		1986	4162	6148	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046491C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35140G>A	19.37:g.9046491C>T	ENSP00000381008:p.Asp11714Asn						p.D11714N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	35344	-			11716			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35140G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	8.114	0.779376	0.16120	.	.	ENSG00000181143	ENST00000397910	T	0.02067	4.47	3.03	-0.373	0.12516	.	.	.	.	.	T	0.01905	0.0060	L	0.38838	1.175	.	.	.	P	0.37101	0.582	B	0.32583	0.148	T	0.41466	-0.9507	8	0.87932	D	0	.	4.2445	0.10665	0.1818:0.598:0.0:0.2202	.	11714	B5ME49	.	N	11714	ENSP00000381008:D11714N	ENSP00000381008:D11714N	D	-	1	0	MUC16	8907491	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.532000	0.06164	0.027000	0.15297	-0.265000	0.10407	GAT		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		23	85	0	0	0	0.00333	0	23	85				
MUC16	94025	broad.mit.edu	37	19	9048898	9048899	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:9048898_9048899GG>TT	ENST00000397910.4	-	5	32935_32936	c.32732_32733CC>AA	c.(32731-32733)aCC>aAA	p.T10911K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10913	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.T6544K(1)|p.T10911K(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						CCCCATGACTGGTGGCCATTGA	0.51																																							uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(32731-32733)ACC>AAA		mucin 16																																				SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048898_9048899GG>TT	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.32732_32733delinsTT	19.37:g.9048898_9048899delinsTT	ENSP00000381008:p.Thr10911Lys						p.T10911K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	32936_32937	-			10913			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	DNP	ENST00000397910.4	37	c.32732_32733CC>AA	CCDS54212.1																																																																																				0.510	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		21	91	0	0	0	0.004672	0	21	91				
MUC16	94025	broad.mit.edu	37	19	9072226	9072226	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:9072226A>T	ENST00000397910.4	-	3	15423	c.15220T>A	c.(15220-15222)Tct>Act	p.S5074T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5076	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.S5074T(2)|p.S707T(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						ACTAGGCCAGAGGTGAGAAGT	0.473																																							uc002mkp.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(15220-15222)TCT>ACT		mucin 16							148.0	134.0	138.0					19																	9072226		1927	4132	6059	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072226A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15220T>A	19.37:g.9072226A>T	ENSP00000381008:p.Ser5074Thr						p.S5074T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	15424	-			5076			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15220T>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	6.795	0.515680	0.12944	.	.	ENSG00000181143	ENST00000397910	T	0.22945	1.93	1.84	-3.68	0.04463	.	.	.	.	.	T	0.14485	0.0350	L	0.29908	0.895	.	.	.	B	0.20052	0.041	B	0.11329	0.006	T	0.22765	-1.0207	8	0.87932	D	0	.	3.3729	0.07227	0.3457:0.0:0.4507:0.2037	.	5074	B5ME49	.	T	5074	ENSP00000381008:S5074T	ENSP00000381008:S5074T	S	-	1	0	MUC16	8933226	.	.	0.000000	0.03702	0.389000	0.30415	.	.	-1.288000	0.02378	0.234000	0.17832	TCT		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		29	150	0	0	0	0.009535	0	29	150				
C19orf53	28974	broad.mit.edu	37	19	13883024	13883024	+	5'Flank	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:13883024G>T	ENST00000588234.1	+	0	0				CTB-5E10.3_ENST00000591826.1_RNA|CTB-5E10.3_ENST00000586894.1_RNA|MRI1_ENST00000040663.6_Nonsense_Mutation_p.E347*|MRI1_ENST00000319545.8_Nonsense_Mutation_p.E300*|CTB-5E10.3_ENST00000586297.1_RNA|C19orf53_ENST00000593274.1_5'Flank	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53									p.E347*(1)|p.E300*(1)		breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			CTTTGCCCCTGAGGAGCTCCG	0.582																																							uc002mxe.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1039-1041)GAG>TAG		translation initiation factor eIF-2B subunit							94.0	88.0	90.0					19																	13883024		2203	4300	6503	SO:0001631	upstream_gene_variant	84245				L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity	g.chr19:13883024G>T	AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"""leydig cell tumor 10 kDa protein homolog"""					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5			19.37:g.13883024G>T	Exception_encountered					MRI1_uc002mxf.2_Nonsense_Mutation_p.E300*|C19orf53_uc002mxg.2_5'Flank	p.E347*	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN			6	1105	+			347					B2R4J9	Nonsense_Mutation	SNP	ENST00000588234.1	37	c.1039G>T	CCDS12298.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326872	0.81690	.	.	ENSG00000037757	ENST00000040663;ENST00000319545	.	.	.	4.88	1.05	0.20165	.	0.235842	0.36409	N	0.002620	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-48.5554	9.3349	0.38045	0.2935:0.0:0.7065:0.0	.	.	.	.	X	347;300	.	ENSP00000040663:E347X	E	+	1	0	MRI1	13744024	0.000000	0.05858	0.252000	0.24328	0.628000	0.37860	-0.092000	0.11129	0.490000	0.27771	0.485000	0.47835	GAG		0.582	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453621.1	NM_014047		21	54	1	0	7.33628e-21	0.002299	1.12713e-20	21	54				
CC2D1A	54862	broad.mit.edu	37	19	14024011	14024011	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:14024011G>T	ENST00000318003.7	+	5	650	c.409G>T	c.(409-411)Gag>Tag	p.E137*	CC2D1A_ENST00000589606.1_Nonsense_Mutation_p.E137*	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	137					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	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)|signal transducer activity (GO:0004871)	p.E137*(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TCCGGGGCTGGAGACCACCTT	0.642																																							uc002mxo.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(409-411)GAG>TAG		coiled-coil and C2 domain containing 1A							17.0	21.0	20.0					19																	14024011		1955	4148	6103	SO:0001587	stop_gained	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14024011G>T	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.409G>T	19.37:g.14024011G>T	ENSP00000313601:p.Glu137*					CC2D1A_uc002mxn.2_Nonsense_Mutation_p.E36*|CC2D1A_uc002mxp.2_Nonsense_Mutation_p.E137*|CC2D1A_uc010dzh.2_5'UTR	p.E137*	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		5	708	+			137					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Nonsense_Mutation	SNP	ENST00000318003.7	37	c.409G>T	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	36	5.721358	0.96839	.	.	ENSG00000132024	ENST00000318003;ENST00000389233	.	.	.	4.76	4.76	0.60689	.	0.351379	0.28901	N	0.013777	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-18.1889	16.696	0.85336	0.0:0.0:1.0:0.0	.	.	.	.	X	137;112	.	ENSP00000313601:E137X	E	+	1	0	CC2D1A	13885011	1.000000	0.71417	0.954000	0.39281	0.137000	0.21094	7.582000	0.82546	2.481000	0.83766	0.561000	0.74099	GAG		0.642	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		6	11	1	0	4.68919e-08	0.008291	5.80489e-08	6	11				
EMR3	84658	broad.mit.edu	37	19	14740861	14740861	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:14740861A>T	ENST00000253673.5	-	14	1902	c.1802T>A	c.(1801-1803)cTc>cAc	p.L601H	EMR3_ENST00000599900.1_Missense_Mutation_p.L386H|EMR3_ENST00000344373.4_Missense_Mutation_p.L549H|EMR3_ENST00000443157.2_Missense_Mutation_p.L475H	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	601					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L601H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTGCTGGCTGAGGAGGCAGTA	0.453																																							uc002mzi.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(1801-1803)CTC>CAC		egf-like module-containing mucin-like receptor							93.0	82.0	86.0					19																	14740861		2203	4300	6503	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14740861A>T	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1802T>A	19.37:g.14740861A>T	ENSP00000253673:p.Leu601His					EMR3_uc010dzp.2_Missense_Mutation_p.L549H|EMR3_uc010xnv.1_Missense_Mutation_p.L475H	p.L601H	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN			14	1950	-			601			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000253673.5	37	c.1802T>A	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.683019	0.68157	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.44083	0.93;0.93;0.93	3.76	3.76	0.43208	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	.	.	.	.	T	0.58192	0.2105	L	0.59436	1.845	0.33455	D	0.584172	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.997;0.999	T	0.69179	-0.5213	9	0.87932	D	0	.	10.7634	0.46279	1.0:0.0:0.0:0.0	.	475;549;601	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	H	475;601;549	ENSP00000396208:L475H;ENSP00000253673:L601H;ENSP00000340758:L549H	ENSP00000253673:L601H	L	-	2	0	EMR3	14601861	1.000000	0.71417	0.984000	0.44739	0.959000	0.62525	7.514000	0.81750	1.700000	0.51204	0.533000	0.62120	CTC		0.453	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		21	24	0	0	0	0.005443	0	21	24				
ZNF333	84449	broad.mit.edu	37	19	14829857	14829857	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:14829857A>T	ENST00000292530.6	+	12	1809	c.1718A>T	c.(1717-1719)gAg>gTg	p.E573V	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.E464V	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	573					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.E573V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GCCTTCAGTGAGCCCTCATCC	0.532																																					NSCLC(60;75 1281 16985 25154 29885)	NSCLC(60;75 1281 16985 25154 29885)	uc002mzn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1717-1719)GAG>GTG		zinc finger protein 333							90.0	70.0	77.0					19																	14829857		2203	4300	6503	SO:0001583	missense	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14829857A>T		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1718A>T	19.37:g.14829857A>T	ENSP00000292530:p.Glu573Val					ZNF333_uc002mzk.3_Missense_Mutation_p.E464V	p.E573V	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN			12	1852	+			573			C2H2-type 8.		Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	c.1718A>T	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.046063	0.36085	.	.	ENSG00000160961	ENST00000536363;ENST00000292530	T;T	0.07327	3.2;3.2	3.14	2.12	0.27331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10937	0.0267	N	0.25094	0.71	0.09310	N	1	D	0.65815	0.995	D	0.63488	0.915	T	0.30966	-0.9960	9	0.16896	T	0.51	.	6.2568	0.20877	0.8689:0.0:0.1311:0.0	.	573	Q96JL9	ZN333_HUMAN	V	464;573	ENSP00000439749:E464V;ENSP00000292530:E573V	ENSP00000292530:E573V	E	+	2	0	ZNF333	14690857	0.647000	0.27304	0.729000	0.30791	0.771000	0.43674	2.804000	0.47931	1.457000	0.47850	0.533000	0.62120	GAG		0.532	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		14	53	0	0	0	0.00245	0	14	53				
SLC1A6	6511	broad.mit.edu	37	19	15082552	15082552	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:15082552T>A	ENST00000221742.3	-	2	347	c.340A>T	c.(340-342)Aca>Tca	p.T114S	SLC1A6_ENST00000430939.2_Missense_Mutation_p.H118L|SLC1A6_ENST00000600144.1_Missense_Mutation_p.T114S|SLC1A6_ENST00000598504.1_Missense_Mutation_p.T114S|SLC1A6_ENST00000544886.2_Missense_Mutation_p.T114S	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	114					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.T114S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CTCTCACCTGTGACCAGGCTG	0.557																																							uc002naa.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(3)|ovary(2)|skin(1)	6						c.(340-342)ACA>TCA		solute carrier family 1 (high affinity	L-Glutamic Acid(DB00142)						102.0	87.0	92.0					19																	15082552		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15082552T>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.340A>T	19.37:g.15082552T>A	ENSP00000221742:p.Thr114Ser					SLC1A6_uc010dzu.1_Missense_Mutation_p.T114S|SLC1A6_uc010xod.1_Missense_Mutation_p.H118L|SLC1A6_uc002nab.2_Missense_Mutation_p.T114S|SLC1A6_uc002nac.2_Missense_Mutation_p.T114S|SLC1A6_uc002nad.1_Missense_Mutation_p.T114S	p.T114S	NM_005071	NP_005062	P48664	EAA4_HUMAN			2	348	-			114			Helical; (Potential).		Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.340A>T	CCDS12321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	10.31|10.31	1.314160|1.314160	0.23908|0.23908	.|.	.|.	ENSG00000105143|ENSG00000105143	ENST00000430939|ENST00000221742;ENST00000544886;ENST00000542610	T|T;T	0.52057|0.56103	0.68|0.48;0.48	3.81|3.81	3.81|3.81	0.43845|0.43845	.|.	.|0.055818	.|0.64402	.|D	.|0.000001	T|T	0.47395|0.47395	0.1443|0.1443	N|N	0.17922|0.17922	0.545|0.545	0.51767|0.51767	D|D	0.999937|0.999937	B|D;P;B	0.13145|0.56521	0.007|0.976;0.927;0.049	B|P;P;B	0.04013|0.58620	0.001|0.812;0.842;0.028	T|T	0.29119|0.29119	-1.0022|-1.0022	9|10	0.21014|0.13470	T|T	0.42|0.59	.|.	10.5685|10.5685	0.45186|0.45186	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	118|114;115;114	E7EV13|Q8N753;Q59GB0;P48664	.|.;.;EAA4_HUMAN	L|S	118|114;114;115	ENSP00000409386:H118L|ENSP00000221742:T114S;ENSP00000446175:T114S	ENSP00000409386:H118L|ENSP00000221742:T114S	H|T	-|-	2|1	0|0	SLC1A6|SLC1A6	14943552|14943552	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.733000|7.733000	0.84916|0.84916	1.595000|1.595000	0.50050|0.50050	0.459000|0.459000	0.35465|0.35465	CAC|ACA		0.557	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		25	36	0	0	0	0.00632	0	25	36				
CILP2	148113	broad.mit.edu	37	19	19655881	19655881	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:19655881G>A	ENST00000291495.5	+	8	2612	c.2527G>A	c.(2527-2529)Ggg>Agg	p.G843R	CILP2_ENST00000586018.1_Missense_Mutation_p.G849R	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	843						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.G843R(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGACAGGCTGGGGTACCGTCG	0.716																																							uc002nmv.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2527-2529)GGG>AGG		cartilage intermediate layer protein 2							20.0	21.0	21.0					19																	19655881		2105	4112	6217	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655881G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2527G>A	19.37:g.19655881G>A	ENSP00000291495:p.Gly843Arg					CILP2_uc002nmw.3_Missense_Mutation_p.G849R	p.G843R	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	2612	+			843					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.2527G>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178598	0.38511	.	.	ENSG00000160161	ENST00000291495	T	0.09350	2.99	5.2	1.62	0.23740	.	0.306413	0.35124	N	0.003432	T	0.09642	0.0237	L	0.43152	1.355	0.26502	N	0.97475	B;B	0.24092	0.097;0.097	B;B	0.26094	0.066;0.066	T	0.19063	-1.0317	10	0.56958	D	0.05	-13.6936	8.2187	0.31528	0.0854:0.2999:0.6147:0.0	.	843;843	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	R	843	ENSP00000291495:G843R	ENSP00000291495:G843R	G	+	1	0	CILP2	19516881	0.078000	0.21339	0.013000	0.15412	0.980000	0.70556	2.158000	0.42329	0.573000	0.29400	0.555000	0.69702	GGG		0.716	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		15	7	0	0	0	0.004656	0	15	7				
ZNF253	56242	broad.mit.edu	37	19	19990929	19990929	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:19990929G>T	ENST00000589717.1	+	3	292	c.200G>T	c.(199-201)aGa>aTa	p.R67I	ZNF253_ENST00000355650.4_Intron	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|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.R67I(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTATGGAAAGACATGAGATG	0.378																																							uc002noj.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(199-201)AGA>ATA		zinc finger protein 253							75.0	82.0	80.0					19																	19990929		2146	4266	6412	SO:0001583	missense	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19990929G>T	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.200G>T	19.37:g.19990929G>T	ENSP00000468720:p.Arg67Ile					ZNF253_uc002nok.2_Intron|ZNF253_uc002nol.2_Intron	p.R67I	NM_021047	NP_066385	O75346	ZN253_HUMAN			3	292	+			67			KRAB.		A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	ENST00000589717.1	37	c.200G>T	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	g	9.563	1.119091	0.20877	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.439	-0.733	0.11144	Krueppel-associated box (1);	.	.	.	.	T	0.30293	0.0760	L	0.50993	1.605	0.09310	N	1	B	0.21381	0.055	B	0.15052	0.012	T	0.21999	-1.0229	6	.	.	.	.	.	.	.	.	67	O75346	ZN253_HUMAN	I	67	.	.	R	+	2	0	ZNF253	19851929	0.002000	0.14202	0.001000	0.08648	0.075000	0.17131	-0.596000	0.05720	-0.411000	0.07530	0.205000	0.17691	AGA		0.378	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		17	64	1	0	1.56452e-12	0.007413	2.15197e-12	17	64				
ZNF100	163227	broad.mit.edu	37	19	21909902	21909902	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:21909902T>C	ENST00000358296.6	-	5	1410	c.1212A>G	c.(1210-1212)gaA>gaG	p.E404E	ZNF100_ENST00000305570.6_Silent_p.E340E	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	404					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.E404E(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TGCCGCATTCTTCACATTTGT	0.383																																							uc002nqi.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1210-1212)GAA>GAG		zinc finger protein 100							62.0	69.0	67.0					19																	21909902		2162	4278	6440	SO:0001819	synonymous_variant	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21909902T>C	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1212A>G	19.37:g.21909902T>C						ZNF100_uc002nqh.2_Silent_p.E340E	p.E404E	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN			5	1411	-			404			C2H2-type 9.		Q7M4M0	Silent	SNP	ENST00000358296.6	37	c.1212A>G	CCDS42538.1																																																																																				0.383	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		4	45	0	0	0	0.009096	0	4	45				
ZNF257	113835	broad.mit.edu	37	19	22272135	22272135	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:22272135C>T	ENST00000594947.1	+	4	1727	c.1583C>T	c.(1582-1584)tCa>tTa	p.S528L		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	528					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.S528L(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AATCGTTTCTCATACCTTACC	0.388																																							uc010ecx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1582-1584)TCA>TTA		zinc finger protein 257							35.0	38.0	37.0					19																	22272135		2106	4259	6365	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22272135C>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1583C>T	19.37:g.22272135C>T	ENSP00000470209:p.Ser528Leu					ZNF257_uc010ecy.2_Missense_Mutation_p.S496L	p.S528L	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	1752	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	528			C2H2-type 13.		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.1583C>T	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	C	9.002	0.980245	0.18812	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-0.71	0.11234	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43389	0.1245	M	0.72118	2.19	0.09310	N	1	B	0.24092	0.097	B	0.19946	0.027	T	0.47736	-0.9094	8	0.59425	D	0.04	.	7.8668	0.29541	0.0:0.7421:0.2579:0.0	.	528	Q9Y2Q1	ZN257_HUMAN	L	528;500	.	ENSP00000380312:S500L	S	+	2	0	ZNF257	22063975	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.562000	0.23531	0.518000	0.28383	0.313000	0.20887	TCA		0.388	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			5	31	0	0	0	0.000602	0	5	31				
ZNF91	7644	broad.mit.edu	37	19	23544297	23544297	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:23544297C>G	ENST00000300619.7	-	4	1689	c.1484G>C	c.(1483-1485)tGt>tCt	p.C495S	ZNF91_ENST00000397082.2_Missense_Mutation_p.C463S|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	495					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C495S(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGCTTTGCCACATTCTTCACA	0.368																																							uc002nre.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1483-1485)TGT>TCT		zinc finger protein 91							60.0	64.0	63.0					19																	23544297		2170	4277	6447	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544297C>G	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1484G>C	19.37:g.23544297C>G	ENSP00000300619:p.Cys495Ser					ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.C463S	p.C495S	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1597	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	495			C2H2-type 13.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1484G>C	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597780	0.46318	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	D;D	0.85861	-2.04;-2.04	1.71	1.71	0.24356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93910	0.8051	H	0.96633	3.855	0.37339	D	0.910308	D;D	0.76494	0.984;0.999	D;D	0.81914	0.972;0.995	D	0.94664	0.7851	9	0.72032	D	0.01	.	10.3697	0.44046	0.0:1.0:0.0:0.0	.	463;495	Q05481-2;Q05481	.;ZNF91_HUMAN	S	495;463	ENSP00000300619:C495S;ENSP00000380272:C463S	ENSP00000300619:C495S	C	-	2	0	ZNF91	23336137	1.000000	0.71417	0.114000	0.21550	0.274000	0.26718	3.571000	0.53841	0.921000	0.36994	0.205000	0.17691	TGT		0.368	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		4	92	0	0	0	0.009096	0	4	92				
ZNF536	9745	broad.mit.edu	37	19	30935936	30935936	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:30935936G>T	ENST00000355537.3	+	2	1614	c.1467G>T	c.(1465-1467)ctG>ctT	p.L489L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	489					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.L489L(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)					ACTCCCTCCTGGGATGCCTCA	0.657																																							uc002nsu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1465-1467)CTG>CTT		zinc finger protein 536							34.0	38.0	37.0					19																	30935936		2203	4298	6501	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935936G>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.1467G>T	19.37:g.30935936G>T						ZNF536_uc010edd.1_Silent_p.L489L	p.L489L	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1605	+	Esophageal squamous(110;0.0834)		489					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1467G>T	CCDS32984.1																																																																																				0.657	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		18	74	1	0	3.32936e-07	0.006122	4.01087e-07	18	74				
TSHZ3	57616	broad.mit.edu	37	19	31768572	31768572	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:31768572G>T	ENST00000240587.4	-	2	2454	c.2127C>A	c.(2125-2127)atC>atA	p.I709I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	709					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I526I(1)|p.I709I(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGTGGTCGGTGATGATGGCCG	0.612																																							uc002nsy.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(2125-2127)ATC>ATA		zinc finger protein 537							56.0	55.0	56.0					19																	31768572		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768572G>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2127C>A	19.37:g.31768572G>T							p.I709I	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	2192	-	Esophageal squamous(110;0.226)		709					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.2127C>A	CCDS12421.2																																																																																				0.612	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		12	77	1	0	4.3838e-07	0.001855	5.25178e-07	12	77				
DPY19L3	147991	broad.mit.edu	37	19	32944168	32944168	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:32944168G>A	ENST00000342179.5	+	9	1188	c.973G>A	c.(973-975)Gca>Aca	p.A325T	DPY19L3_ENST00000586987.1_Missense_Mutation_p.A325T|DPY19L3_ENST00000392250.2_Missense_Mutation_p.A325T	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	325						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.A325T(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					AGTATTCATTGCAAGAAAACT	0.308																																							uc002ntg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(973-975)GCA>ACA		dpy-19-like 3							96.0	86.0	90.0					19																	32944168		2203	4300	6503	SO:0001583	missense	147991					integral to membrane		g.chr19:32944168G>A		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.973G>A	19.37:g.32944168G>A	ENSP00000344937:p.Ala325Thr					DPY19L3_uc002nth.1_Missense_Mutation_p.A325T|DPY19L3_uc002nti.1_RNA	p.A325T	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			9	1149	+	Esophageal squamous(110;0.162)		325					Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	c.973G>A	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130048	0.56721	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.54866	0.55;0.55	5.72	5.72	0.89469	.	0.327344	0.34133	N	0.004221	T	0.54695	0.1874	L	0.61218	1.895	0.30391	N	0.780985	B	0.21905	0.062	B	0.27608	0.081	T	0.53954	-0.8365	10	0.34782	T	0.22	-4.871	18.0595	0.89372	0.0:0.0:1.0:0.0	.	325	Q6ZPD9	D19L3_HUMAN	T	325	ENSP00000376081:A325T;ENSP00000344937:A325T	ENSP00000315672:A325T	A	+	1	0	DPY19L3	37636008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.858000	0.62947	2.695000	0.91970	0.655000	0.94253	GCA		0.308	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		4	61	0	0	0	0.009096	0	4	61				
CD22	933	broad.mit.edu	37	19	35828663	35828663	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:35828663C>A	ENST00000085219.5	+	5	790	c.724C>A	c.(724-726)Ccg>Acg	p.P242T	CD22_ENST00000341773.6_Intron|CD22_ENST00000594250.1_Intron|CD22_ENST00000270311.6_Missense_Mutation_p.P122T|CD22_ENST00000544992.2_Missense_Mutation_p.P242T|CD22_ENST00000419549.2_Missense_Mutation_p.P70T|CD22_ENST00000536635.2_Missense_Mutation_p.P242T	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	242	Ig-like C2-type 2.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.P242T(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCCAGACACCCCGAAGTTGGA	0.597																																					Ovarian(42;1009 1133 23674 26041)	Ovarian(42;1009 1133 23674 26041)	uc010edt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|breast(1)	9						c.(724-726)CCG>ACG		CD22 molecule precursor	OspA lipoprotein(DB00045)						42.0	38.0	39.0					19																	35828663		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35828663C>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.724C>A	19.37:g.35828663C>A	ENSP00000085219:p.Pro242Thr					CD22_uc010xst.1_Missense_Mutation_p.P70T|CD22_uc010edu.2_Missense_Mutation_p.P242T|CD22_uc010edv.2_Missense_Mutation_p.P242T|CD22_uc002nzb.3_Intron|CD22_uc010edx.2_RNA	p.P242T	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		5	801	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		242			Extracellular (Potential).|Ig-like C2-type 2.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.724C>A	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149342	0.57151	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000544992;ENST00000270311;ENST00000419549	D;D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44;-4.44	4.87	4.87	0.63330	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000110	D	0.98058	0.9360	M	0.76002	2.32	0.28831	N	0.897146	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	1.0;0.983;1.0;1.0	D	0.94861	0.8022	10	0.87932	D	0	.	13.5142	0.61530	0.0:1.0:0.0:0.0	.	70;242;242;242	Q32M46;F5GYU4;F5H7U3;P20273	.;.;.;CD22_HUMAN	T	242;242;242;122;70	ENSP00000085219:P242T;ENSP00000442279:P242T;ENSP00000441237:P242T;ENSP00000270311:P122T;ENSP00000403822:P70T	ENSP00000085219:P242T	P	+	1	0	CD22	40520503	0.882000	0.30256	0.150000	0.22450	0.010000	0.07245	3.735000	0.55044	2.258000	0.74832	0.467000	0.42956	CCG		0.597	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		31	50	1	0	2.46105e-21	0.002096	3.81375e-21	31	50				
ZFP30	22835	broad.mit.edu	37	19	38126484	38126484	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:38126484G>A	ENST00000351218.2	-	6	1515	c.958C>T	c.(958-960)Cat>Tat	p.H320Y	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.H320Y|ZFP30_ENST00000392144.1_Missense_Mutation_p.H320Y	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H320Y(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCAGTATGAAGTTTGTGA	0.458																																							uc002ogv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(958-960)CAT>TAT		zinc finger protein 30 homolog							92.0	89.0	90.0					19																	38126484		2203	4300	6503	SO:0001583	missense	22835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38126484G>A	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.958C>T	19.37:g.38126484G>A	ENSP00000343581:p.His320Tyr					ZFP30_uc002ogw.1_Missense_Mutation_p.H320Y|ZFP30_uc002ogx.1_Missense_Mutation_p.H320Y|ZFP30_uc010xtt.1_Missense_Mutation_p.H319Y	p.H320Y	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1474	-			320			C2H2-type 6.		Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	c.958C>T	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984532	0.74474	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.67523	-0.27;-0.27;-0.27	3.99	3.99	0.46301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35936	N	0.002887	D	0.85243	0.5652	M	0.93062	3.375	0.45607	D	0.998542	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	D	0.89374	0.3677	10	0.87932	D	0	.	15.355	0.74421	0.0:0.0:1.0:0.0	.	320;320	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	Y	320;320;320;235	ENSP00000343581:H320Y;ENSP00000422930:H320Y;ENSP00000375988:H320Y	ENSP00000343581:H320Y	H	-	1	0	ZFP30	42818324	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.696000	0.91302	2.223000	0.72356	0.655000	0.94253	CAT		0.458	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898		15	92	0	0	0	0.006122	0	15	92				
CYP2A6	1548	broad.mit.edu	37	19	41349862	41349862	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:41349862C>G	ENST00000301141.5	-	9	1344	c.1324G>C	c.(1324-1326)Gaa>Caa	p.E442Q	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	442					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.E442Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GCCAGGCCTTCTCCGAAACAG	0.602																																							uc002opl.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1324-1326)GAA>CAA		cytochrome P450, family 2, subfamily A,	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						38.0	32.0	34.0					19																	41349862		2201	4278	6479	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41349862C>G	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.1324G>C	19.37:g.41349862C>G	ENSP00000301141:p.Glu442Gln						p.E442Q	NM_000762	NP_000753	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		9	1345	-			442					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.1324G>C	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	16.93	3.259323	0.59321	.	.	ENSG00000255974	ENST00000301141	T	0.70282	-0.47	2.98	2.98	0.34508	.	0.000000	0.85682	U	0.000000	T	0.68705	0.3030	L	0.35487	1.065	0.38396	D	0.945531	D	0.57899	0.981	P	0.52909	0.713	T	0.75445	-0.3315	10	0.87932	D	0	.	13.0889	0.59156	0.0:1.0:0.0:0.0	.	442	P11509	CP2A6_HUMAN	Q	442	ENSP00000301141:E442Q	ENSP00000301141:E442Q	E	-	1	0	CYP2A6	46041702	1.000000	0.71417	0.973000	0.42090	0.340000	0.28889	6.701000	0.74624	1.392000	0.46585	0.386000	0.25728	GAA		0.602	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		10	42	0	0	0	0.00245	0	10	42				
PSG3	5671	broad.mit.edu	37	19	43233356	43233356	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:43233356G>A	ENST00000327495.5	-	5	1346	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y	PSG3_ENST00000595140.1_Missense_Mutation_p.H388Y	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	388	Ig-like C2-type 3.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.H388Y(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGCCCGCTATGCTTTGTAGTA	0.468																																							uc002oue.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1162-1164)CAT>TAT		pregnancy specific beta-1-glycoprotein 3							187.0	194.0	192.0					19																	43233356		2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43233356G>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.1162C>T	19.37:g.43233356G>A	ENSP00000332215:p.His388Tyr					PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Missense_Mutation_p.H388Y|PSG3_uc010eil.2_Missense_Mutation_p.H410Y	p.H388Y	NM_021016	NP_066296	Q16557	PSG3_HUMAN			5	1294	-		Prostate(69;0.00682)	388			Ig-like C2-type 3.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.1162C>T	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	N	8.045	0.764668	0.15914	.	.	ENSG00000221826	ENST00000327495	T	0.36520	1.25	1.11	-2.21	0.06973	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38214	0.1032	M	0.72894	2.215	0.09310	N	1	B;B;P	0.42248	0.094;0.421;0.774	B;B;P	0.46885	0.085;0.283;0.53	T	0.29212	-1.0019	9	0.54805	T	0.06	.	3.2644	0.06860	0.0:0.2693:0.4617:0.2691	.	312;388;388	Q08266;P11464-2;Q16557	.;.;PSG3_HUMAN	Y	388	ENSP00000332215:H388Y	ENSP00000332215:H388Y	H	-	1	0	PSG3	47925196	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.499000	0.02285	-1.252000	0.02491	-0.781000	0.03364	CAT		0.468	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		149	178	0	0	0	0.00361	0	149	178				
PSG8	440533	broad.mit.edu	37	19	43259311	43259311	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:43259311A>T	ENST00000306511.4	-	4	914	c.817T>A	c.(817-819)Tgg>Agg	p.W273R	PSG8_ENST00000401467.2_Missense_Mutation_p.W180R|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.W273R|PSG8_ENST00000406636.3_Missense_Mutation_p.W151R	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	273	Ig-like C2-type 2.					extracellular region (GO:0005576)		p.W273R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTTAGCCACCAAATGTAGGTG	0.473																																							uc002ouo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(817-819)TGG>AGG		pregnancy specific beta-1-glycoprotein 8 isoform							85.0	91.0	89.0					19																	43259311		2203	4293	6496	SO:0001583	missense	440533					extracellular region		g.chr19:43259311A>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.817T>A	19.37:g.43259311A>T	ENSP00000305005:p.Trp273Arg					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_Intron|PSG8_uc002oui.2_Missense_Mutation_p.W112R|PSG8_uc002ouh.2_Missense_Mutation_p.W273R|PSG8_uc010ein.2_Missense_Mutation_p.W151R|PSG8_uc002ouj.3_Missense_Mutation_p.W55R|PSG8_uc002ouk.3_Missense_Mutation_p.W112R|PSG8_uc002oul.3_Missense_Mutation_p.W273R|PSG8_uc002oum.3_Missense_Mutation_p.W180R|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.W180R	p.W273R	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			4	915	-		Prostate(69;0.00899)	273			Ig-like C2-type 2.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.817T>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	10.85	1.465939	0.26335	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	1.26	1.26	0.21427	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81346	0.4803	H	0.95079	3.62	0.09310	N	1	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;0.997;0.998	D;D;D;D;D;D	0.97110	0.977;1.0;1.0;0.999;0.965;0.98	T	0.66806	-0.5830	9	0.87932	D	0	.	4.6152	0.12422	1.0:0.0:0.0:0.0	.	151;180;273;180;273;273	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	R	273;151;180;85;180;273	ENSP00000385869:W273R;ENSP00000385081:W151R;ENSP00000386090:W180R;ENSP00000305005:W273R	ENSP00000305005:W273R	W	-	1	0	PSG8	47951151	0.026000	0.19158	0.005000	0.12908	0.007000	0.05969	2.262000	0.43285	0.547000	0.28938	0.248000	0.18094	TGG		0.473	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			115	116	0	0	0	0.00361	0	115	116				
IGFL4	444882	broad.mit.edu	37	19	46543514	46543514	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:46543514C>T	ENST00000377697.1	-	3	284	c.231G>A	c.(229-231)ctG>ctA	p.L77L	IGFL4_ENST00000601672.1_5'UTR|IGFL4_ENST00000595006.1_5'Flank	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	77						extracellular space (GO:0005615)		p.L77L(1)		cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CCAAAGACTCCAGGCAGCAGT	0.582																																							uc002pdy.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(229-231)CTG>CTA		IGF-like family member 4 precursor							55.0	57.0	56.0					19																	46543514		2203	4300	6503	SO:0001819	synonymous_variant	444882					extracellular region		g.chr19:46543514C>T	AY672114	CCDS33057.1	19q13.32	2006-07-14							32931	protein-coding gene	gene with protein product		610547				14702039	Standard	NM_001002923		Approved		uc002pdy.1	Q6B9Z1		ENST00000377697.1:c.231G>A	19.37:g.46543514C>T							p.L77L	NM_001002923	NP_001002923	Q6B9Z1	IGFL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)	3	285	-		all_neural(266;0.113)|Ovarian(192;0.127)	77						Silent	SNP	ENST00000377697.1	37	c.231G>A	CCDS33057.1																																																																																				0.582	IGFL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461698.1	NM_001002923		16	51	0	0	0	0.004007	0	16	51				
TULP2	7288	broad.mit.edu	37	19	49387023	49387023	+	Silent	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:49387023G>C	ENST00000221399.3	-	11	1407	c.1263C>G	c.(1261-1263)gtC>gtG	p.V421V		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	421					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)	p.V421V(1)		NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TTAGTGGCTGGACATTGATTC	0.542																																							uc002pkz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(1261-1263)GTC>GTG		tubby like protein 2							97.0	91.0	93.0					19																	49387023		2203	4300	6503	SO:0001819	synonymous_variant	7288				visual perception	cytoplasm|extracellular region		g.chr19:49387023G>C	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1263C>G	19.37:g.49387023G>C							p.V421V	NM_003323	NP_003314	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	11	1414	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	421					Q8TC50	Silent	SNP	ENST00000221399.3	37	c.1263C>G	CCDS12739.1																																																																																				0.542	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		3	26	0	0	0	0.001168	0	3	26				
SIGLEC9	27180	broad.mit.edu	37	19	51628974	51628974	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:51628974T>C	ENST00000250360.3	+	2	609	c.542T>C	c.(541-543)aTa>aCa	p.I181T	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.I181T	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	181	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.I181T(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ATCTCCTGGATAGGGACCTCC	0.662																																							uc002pvu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(541-543)ATA>ACA		sialic acid binding Ig-like lectin 9 precursor							85.0	86.0	86.0					19																	51628974		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628974T>C	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.542T>C	19.37:g.51628974T>C	ENSP00000250360:p.Ile181Thr					SIGLEC9_uc010yct.1_Missense_Mutation_p.I181T	p.I181T	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	2	609	+		all_neural(266;0.0529)	181			Extracellular (Potential).|Ig-like C2-type 1.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.542T>C	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.032234	0.00041	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.02787	4.16;4.16	2.88	-5.75	0.02384	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	6.528020	0.00575	N	0.000313	T	0.00967	0.0032	N	0.01751	-0.74	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.40289	-0.9571	10	0.02654	T	1	.	0.9783	0.01430	0.2279:0.2746:0.1135:0.384	.	181	Q9Y336	SIGL9_HUMAN	T	181	ENSP00000413861:I181T;ENSP00000250360:I181T	ENSP00000250360:I181T	I	+	2	0	SIGLEC9	56320786	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-5.310000	0.00132	-2.391000	0.00586	-2.717000	0.00132	ATA		0.662	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		82	65	0	0	0	0.00361	0	82	65				
CD33	945	broad.mit.edu	37	19	51729250	51729250	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:51729250C>T	ENST00000262262.4	+	3	631	c.610C>T	c.(610-612)Cag>Tag	p.Q204*	CD33_ENST00000436584.2_Nonsense_Mutation_p.Q77*|CD33_ENST00000421133.2_Nonsense_Mutation_p.Q77*|CD33_ENST00000391796.3_Nonsense_Mutation_p.Q204*	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	204	Ig-like C2-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.Q204*(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)	CCCACGGCCCCAGGACCACGG	0.617																																							uc002pwa.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(610-612)CAG>TAG		CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)						58.0	55.0	56.0					19																	51729250		2203	4300	6503	SO:0001587	stop_gained	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.chr19:51729250C>T	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.610C>T	19.37:g.51729250C>T	ENSP00000262262:p.Gln204*					CD33_uc010eos.1_Nonsense_Mutation_p.Q204*|CD33_uc010eot.1_Nonsense_Mutation_p.Q77*|CD33_uc010eou.1_RNA	p.Q204*	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	3	650	+		all_neural(266;0.0199)	204			Extracellular (Potential).|Ig-like C2-type.		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Nonsense_Mutation	SNP	ENST00000262262.4	37	c.610C>T	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	16.70	3.197184	0.58126	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	.	.	.	3.08	1.95	0.26073	.	0.000000	0.30244	U	0.010075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.711	0.28677	0.0:0.737:0.263:0.0	.	.	.	.	X	77;204;77;204	.	ENSP00000262262:Q204X	Q	+	1	0	CD33	56421062	0.138000	0.22547	0.259000	0.24435	0.229000	0.25112	0.632000	0.24583	0.562000	0.29204	0.462000	0.41574	CAG		0.617	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		17	54	0	0	0	0.010504	0	17	54				
FPR2	2358	broad.mit.edu	37	19	52272376	52272376	+	Silent	SNP	C	C	A	rs373703675		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:52272376C>A	ENST00000598776.1	+	2	1237	c.465C>A	c.(463-465)gtC>gtA	p.V155V	FPR2_ENST00000340023.6_Silent_p.V155V|FPR2_ENST00000598953.1_Silent_p.V155V	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	155					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)	p.V155V(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TTGCTCTAGTCCTTACCTTGC	0.512																																							uc002pxr.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(1)	4						c.(463-465)GTC>GTA		formyl peptide receptor-like 1		C	,	0,4406		0,0,2203	139.0	127.0	131.0		465,465	0.0	0.0	19		131	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	FPR2	NM_001005738.1,NM_001462.3	,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	,	155/352,155/352	52272376	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272376C>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.465C>A	19.37:g.52272376C>A						FPR2_uc002pxs.3_Silent_p.V155V|FPR2_uc010epf.2_Silent_p.V155V	p.V155V	NM_001005738	NP_001005738	P25090	FPR2_HUMAN			2	510	+			155			Helical; Name=4; (Potential).		A8K3E2	Silent	SNP	ENST00000598776.1	37	c.465C>A	CCDS12840.1																																																																																				0.512	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		12	127	1	0	2.80697e-09	0.000978	3.59039e-09	12	127				
FPR3	2359	broad.mit.edu	37	19	52327946	52327946	+	Silent	SNP	C	C	A	rs544698790	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:52327946C>A	ENST00000339223.4	+	2	1124	c.945C>A	c.(943-945)cgC>cgA	p.R315R	FPR3_ENST00000595991.1_Silent_p.R315R	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	315					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)	p.R315R(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GACTGATTCGCTCTTTGCCCA	0.512																																							uc002pxt.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|breast(1)|skin(1)	6						c.(943-945)CGC>CGA		formyl peptide receptor-like 2							103.0	97.0	99.0					19																	52327946		2203	4300	6503	SO:0001819	synonymous_variant	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327946C>A		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.945C>A	19.37:g.52327946C>A							p.R315R	NM_002030	NP_002021	P25089	FPR3_HUMAN			2	1129	+			315			Cytoplasmic (Potential).			Silent	SNP	ENST00000339223.4	37	c.945C>A	CCDS12841.1																																																																																				0.512	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		57	78	1	0	4.96213e-28	0.00361	8.01232e-28	57	78				
PPP2R1A	5518	broad.mit.edu	37	19	52729033	52729033	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:52729033C>T	ENST00000322088.6	+	14	1783	c.1725C>T	c.(1723-1725)gtC>gtT	p.V575V	PPP2R1A_ENST00000462990.1_Silent_p.V396V|CTD-2525I3.3_ENST00000599125.1_RNA|CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000444322.2_Silent_p.V520V	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	575	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.V575V(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ATGTGGACGTCAAATACTTTG	0.572			Mis		clear cell ovarian carcinoma																																		uc002pyp.2		NA		Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		1	Substitution - coding silent(1)		lung(1)	endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(1723-1725)GTC>GTT		alpha isoform of regulatory subunit A, protein							149.0	143.0	145.0					19																	52729033		2203	4300	6503	SO:0001819	synonymous_variant	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52729033C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1725C>T	19.37:g.52729033C>T						PPP2R1A_uc010ydk.1_Silent_p.V520V|PPP2R1A_uc002pyq.2_Silent_p.V396V	p.V575V	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	14	1884	+			575			PP2A subunit C binding.|HEAT 15.		Q13773|Q6ICQ3|Q96DH3	Silent	SNP	ENST00000322088.6	37	c.1725C>T	CCDS12849.1																																																																																				0.572	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		15	121	0	0	0	0.003163	0	15	121				
ZNF611	81856	broad.mit.edu	37	19	53208717	53208717	+	Missense_Mutation	SNP	C	C	G	rs569739297	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:53208717C>G	ENST00000319783.1	-	7	1907	c.1591G>C	c.(1591-1593)Ggt>Cgt	p.G531R	ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000595798.1_Missense_Mutation_p.G462R|ZNF611_ENST00000540744.1_Missense_Mutation_p.G531R|ZNF611_ENST00000453741.2_Missense_Mutation_p.G462R|ZNF611_ENST00000543227.1_Missense_Mutation_p.G531R|ZNF611_ENST00000602162.1_Missense_Mutation_p.G462R	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	531					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.G531R(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CCAGTATGACCTATCTTATGT	0.368																																							uc002pzz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1591-1593)GGT>CGT		zinc finger protein 611 isoform a							149.0	147.0	148.0					19																	53208717		2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208717C>G	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1591G>C	19.37:g.53208717C>G	ENSP00000322427:p.Gly531Arg					ZNF611_uc010eqc.2_Missense_Mutation_p.G461R|ZNF611_uc010ydo.1_Missense_Mutation_p.G461R|ZNF611_uc010ydr.1_Missense_Mutation_p.G462R|ZNF611_uc010ydp.1_Missense_Mutation_p.G531R|ZNF611_uc010ydq.1_Missense_Mutation_p.G531R|ZNF611_uc002qaa.3_Missense_Mutation_p.G461R	p.G531R	NM_030972	NP_112234	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	7	1908	-			531			C2H2-type 11.		B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1591G>C	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	5.170	0.216994	0.09810	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	1.27	-2.53	0.06326	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10208	0.0250	N	0.00686	-1.255	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.27971	-1.0058	9	0.87932	D	0	.	4.62	0.12445	0.0:0.4:0.1725:0.4275	.	531	Q8N823	ZN611_HUMAN	R	531;531;462;531	ENSP00000437616:G531R;ENSP00000439211:G531R;ENSP00000443505:G462R;ENSP00000322427:G531R	ENSP00000322427:G531R	G	-	1	0	ZNF611	57900529	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.080000	0.03407	-2.836000	0.00337	-2.905000	0.00092	GGT		0.368	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		108	123	0	0	0	0.00361	0	108	123				
NLRP12	91662	broad.mit.edu	37	19	54327411	54327411	+	Silent	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:54327411G>C	ENST00000324134.6	-	1	186	c.18C>G	c.(16-18)ggC>ggG	p.G6G	NLRP12_ENST00000391772.1_Silent_p.G6G|NLRP12_ENST00000391775.3_Silent_p.G6G|NLRP12_ENST00000391773.1_Silent_p.G6G|NLRP12_ENST00000354278.3_Silent_p.G6G|NLRP12_ENST00000535162.1_Silent_p.G6G|NLRP12_ENST00000345770.5_Silent_p.G6G|NLRP12_ENST00000351894.4_Silent_p.G6G	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	6	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				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.G6G(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)		GGCCGTCCCTGCCTGCGGTTC	0.612																																							uc002qch.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(16-18)GGC>GGG		NLR family, pyrin domain containing 12 isoform							42.0	40.0	41.0					19																	54327411		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.chr19:54327411G>C	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.18C>G	19.37:g.54327411G>C						NLRP12_uc002qci.3_Silent_p.G6G|NLRP12_uc002qcj.3_Silent_p.G6G|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.G6G	p.G6G	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	1	238	-	Ovarian(34;0.19)		6			DAPIN.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.18C>G	CCDS12864.1																																																																																				0.612	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		10	33	0	0	0	0.001368	0	10	33				
KIR3DL1	3811	broad.mit.edu	37	19	55341634	55341634	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:55341634C>A	ENST00000391728.4	+	9	1272	c.1239C>A	c.(1237-1239)cgC>cgA	p.R413R	KIR3DL1_ENST00000358178.4_Silent_p.R318R|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Silent_p.R396R|KIR3DL1_ENST00000538269.1_Silent_p.R413R|KIR3DL1_ENST00000541392.1_Silent_p.R396R|KIR2DS4_ENST00000339924.8_RNA	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	413					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.R413R(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AAATCACTCGCCCTTCTCAGA	0.507																																							uc002qhk.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(1237-1239)CGC>CGA		killer cell immunoglobulin-like receptor, three							249.0	237.0	241.0					19																	55341634		2174	4168	6342	SO:0001819	synonymous_variant	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55341634C>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1239C>A	19.37:g.55341634C>A						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Silent_p.R338R|KIR3DL1_uc010esf.2_Silent_p.R318R|KIR3DL1_uc010yfo.1_Silent_p.R355R|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank	p.R413R	NM_013289	NP_037421	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	9	1302	+			413			Cytoplasmic (Potential).		O43473|Q14946|Q16541	Silent	SNP	ENST00000391728.4	37	c.1239C>A	CCDS42621.1																																																																																				0.507	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		86	257	1	0	3.56499e-28	0.00361	5.76501e-28	86	257				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																							uc002qqo.2		NA																	2	Substitution - coding silent(2)		kidney(2)		0						c.(994-996)TCG>TCC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.S332S	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1268	-			332			C2H2-type 5.		A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	4	0	0	0	0.004672	0	3	4				
ZSCAN1	284312	broad.mit.edu	37	19	58565273	58565273	+	Missense_Mutation	SNP	G	G	A	rs369547013		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:58565273G>A	ENST00000282326.1	+	6	1328	c.1081G>A	c.(1081-1083)Gtc>Atc	p.V361I		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	361					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.V361I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGGGAGTCCGTCCCACCCAG	0.662																																							uc002qrc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1081-1083)GTC>ATC		zinc finger and SCAN domain containing 1		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	31.0	33.0	32.0		1081	-0.1	0.0	19		32	0,8600		0,0,4300	no	missense	ZSCAN1	NM_182572.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	361/409	58565273	1,13005	2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565273G>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.1081G>A	19.37:g.58565273G>A	ENSP00000282326:p.Val361Ile						p.V361I	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1328	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	361					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.1081G>A	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	1.632	-0.518718	0.04171	2.27E-4	0.0	ENSG00000152467	ENST00000282326	T	0.04551	3.6	1.14	-0.0531	0.13819	.	.	.	.	.	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.48927	-0.8991	9	0.15952	T	0.53	.	3.0984	0.06318	0.0:0.3301:0.3939:0.276	.	361	Q8NBB4	ZSCA1_HUMAN	I	361	ENSP00000282326:V361I	ENSP00000282326:V361I	V	+	1	0	ZSCAN1	63257085	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-0.197000	0.09518	0.033000	0.15463	0.491000	0.48974	GTC		0.662	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		12	43	0	0	0	0.001368	0	12	43				
ZBTB45	84878	broad.mit.edu	37	19	59028649	59028649	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:59028649G>A	ENST00000594051.1	-	2	872	c.392C>T	c.(391-393)tCt>tTt	p.S131F	ZBTB45_ENST00000600990.1_Missense_Mutation_p.S131F|ZBTB45_ENST00000354590.3_Missense_Mutation_p.S131F			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	131	Pro-rich.				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.S131F(1)		breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CGTGGGCGCAGAGGTGCCCGG	0.706											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	NSCLC(164;1383 2017 5233 27540 46677)	uc002qtd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(391-393)TCT>TTT		zinc finger and BTB domain containing 45							9.0	11.0	10.0					19																	59028649		2128	4160	6288	SO:0001583	missense	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028649G>A	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.392C>T	19.37:g.59028649G>A	ENSP00000469089:p.Ser131Phe		OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_uc002qte.2_Missense_Mutation_p.S131F|ZBTB45_uc002qtf.2_Missense_Mutation_p.S131F	p.S131F	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	684	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	131			Pro-rich.			Missense_Mutation	SNP	ENST00000594051.1	37	c.392C>T	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	g	7.501	0.652646	0.14580	.	.	ENSG00000119574	ENST00000354590	T	0.10288	2.89	3.45	1.09	0.20402	.	3.760230	0.01732	U	0.028903	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	B	0.20368	0.044	B	0.15484	0.013	T	0.33497	-0.9866	10	0.66056	D	0.02	.	2.9416	0.05833	0.2602:0.2515:0.4883:0.0	.	131	Q96K62	ZBT45_HUMAN	F	131	ENSP00000346603:S131F	ENSP00000346603:S131F	S	-	2	0	ZBTB45	63720461	0.000000	0.05858	0.010000	0.14722	0.277000	0.26821	0.072000	0.14617	1.648000	0.50643	0.313000	0.20887	TCT		0.706	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		3	22	0	0	0	0.004672	0	3	22				
TSSC1	7260	broad.mit.edu	37	2	3341899	3341899	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:3341899C>A	ENST00000382125.4	-	3	340	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	TSSC1_ENST00000443925.2_Missense_Mutation_p.D50Y|TSSC1_ENST00000398659.4_Missense_Mutation_p.D50Y	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	50								p.D50Y(1)		breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TTGTTTTCATCGTCAAAATCT	0.403																																					Colon(140;1261 1762 4183 34270 49743)	Colon(140;1261 1762 4183 34270 49743)	uc002qxj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(148-150)GAT>TAT		tumor suppressing subtransferable candidate 1							90.0	84.0	86.0					2																	3341899		2203	4300	6503	SO:0001583	missense	7260						protein binding	g.chr2:3341899C>A	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.148G>T	2.37:g.3341899C>A	ENSP00000371559:p.Asp50Tyr						p.D50Y	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	3	341	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	50					D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	37	c.148G>T	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790538	0.90367	.	.	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000443925;ENST00000444776	T;T;T	0.14893	2.47;2.47;2.47	6.0	6.0	0.97389	WD40/YVTN repeat-like-containing domain (1);	0.108661	0.64402	D	0.000002	T	0.46483	0.1395	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.35001	-0.9806	10	0.72032	D	0.01	-11.5561	19.5779	0.95452	0.0:1.0:0.0:0.0	.	50	Q53HC9	TSSC1_HUMAN	Y	50	ENSP00000371559:D50Y;ENSP00000381652:D50Y;ENSP00000389080:D50Y	ENSP00000371559:D50Y	D	-	1	0	TSSC1	3320906	1.000000	0.71417	0.816000	0.32577	0.987000	0.75469	7.726000	0.84824	2.871000	0.98454	0.639000	0.83563	GAT		0.403	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		27	45	1	0	1.42536e-11	0.004656	1.93095e-11	27	45				
KIDINS220	57498	broad.mit.edu	37	2	8930077	8930077	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:8930077G>A	ENST00000256707.3	-	14	1735	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	KIDINS220_ENST00000418530.1_Silent_p.F476F|KIDINS220_ENST00000427284.1_Silent_p.F518F|KIDINS220_ENST00000319688.5_Silent_p.F519F|KIDINS220_ENST00000473731.1_Silent_p.F518F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	518	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.F518F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGTGGACCGTGAAGGCAAACA	0.413																																							uc002qzc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1552-1554)TTC>TTT		kinase D-interacting substrate of 220 kDa							115.0	108.0	110.0					2																	8930077		1840	4098	5938	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8930077G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1554C>T	2.37:g.8930077G>A						KIDINS220_uc010yiv.1_Silent_p.F284F|KIDINS220_uc002qzd.2_Silent_p.F476F|KIDINS220_uc010yiw.1_Silent_p.F519F	p.F518F	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			14	1736	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		518			KAP NTPase.|Helical; (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.1554C>T	CCDS42650.1																																																																																				0.413	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		11	133	0	0	0	0.001368	0	11	133				
SDC1	6382	broad.mit.edu	37	2	20402564	20402564	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:20402564T>A	ENST00000254351.4	-	5	1140	c.896A>T	c.(895-897)tAc>tTc	p.Y299F	SDC1_ENST00000403076.1_Intron|SDC1_ENST00000381150.1_Missense_Mutation_p.Y299F|SDC1_ENST00000482879.1_Intron	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	299					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)	p.Y299F(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GGGCTTCTGGTAGGCCCCGCC	0.597																																							uc002rdo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(895-897)TAC>TTC		syndecan 1 precursor							108.0	109.0	108.0					2																	20402564		2203	4300	6503	SO:0001583	missense	6382				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	g.chr2:20402564T>A	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.896A>T	2.37:g.20402564T>A	ENSP00000254351:p.Tyr299Phe					SDC1_uc002rdp.1_Missense_Mutation_p.Y299F|SDC1_uc010exv.2_Intron	p.Y299F	NM_002997	NP_002988	P18827	SDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.221)	5	1195	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		299			Cytoplasmic (Potential).		D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	c.896A>T	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	T	33	5.200954	0.94997	.	.	ENSG00000115884	ENST00000254351;ENST00000381150	T;T	0.37235	1.21;1.21	4.89	4.89	0.63831	.	0.000000	0.45606	D	0.000344	T	0.61110	0.2321	M	0.82056	2.57	0.53688	D	0.999974	D	0.89917	1.0	D	0.87578	0.998	T	0.66858	-0.5817	10	0.87932	D	0	-16.3177	12.7722	0.57427	0.0:0.0:0.0:1.0	.	299	P18827	SDC1_HUMAN	F	299	ENSP00000254351:Y299F;ENSP00000370542:Y299F	ENSP00000254351:Y299F	Y	-	2	0	SDC1	20266045	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.841000	0.86834	1.961000	0.56991	0.459000	0.35465	TAC		0.597	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		65	90	0	0	0	0.00361	0	65	90				
ITSN2	50618	broad.mit.edu	37	2	24533500	24533500	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:24533500T>A	ENST00000355123.4	-	6	857	c.414A>T	c.(412-414)acA>acT	p.T138T	ITSN2_ENST00000361999.3_Silent_p.T138T|ITSN2_ENST00000406921.3_Silent_p.T138T|ITSN2_ENST00000407704.1_5'Flank	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	138					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.T137T(1)|p.T138T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGACAATGATGTTATAGGTG	0.458																																							uc002rfe.2		NA																	2	Substitution - coding silent(2)		lung(2)	kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(412-414)ACA>ACT		intersectin 2 isoform 1							138.0	120.0	126.0					2																	24533500		2203	4300	6503	SO:0001819	synonymous_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24533500T>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.414A>T	2.37:g.24533500T>A						ITSN2_uc002rff.2_Silent_p.T138T|ITSN2_uc002rfg.2_Silent_p.T138T|ITSN2_uc010eyd.2_Silent_p.T138T	p.T138T	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			6	672	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		138					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	c.414A>T	CCDS1710.2																																																																																				0.458	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		9	65	0	0	0	0.008291	0	9	65				
HADHB	3032	broad.mit.edu	37	2	26502085	26502085	+	Missense_Mutation	SNP	G	G	C	rs369313023		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:26502085G>C	ENST00000317799.5	+	9	817	c.713G>C	c.(712-714)cGg>cCg	p.R238P	HADHB_ENST00000537713.1_Missense_Mutation_p.R223P|HADHB_ENST00000545822.1_Missense_Mutation_p.R216P|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000494615.1_3'UTR	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	238					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)	p.R238P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGTTTCTCGGCTGGAACAG	0.542																																							uc002rgz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(712-714)CGG>CCG		mitochondrial trifunctional protein, beta							103.0	97.0	99.0					2																	26502085		2203	4300	6503	SO:0001583	missense	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26502085G>C		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.713G>C	2.37:g.26502085G>C	ENSP00000325136:p.Arg238Pro					HADHB_uc010ykv.1_Missense_Mutation_p.R216P|HADHB_uc010ykw.1_Missense_Mutation_p.R223P|HADHB_uc002rha.2_Intron|HADHB_uc010ykx.1_Missense_Mutation_p.R164P	p.R238P	NM_000183	NP_000174	P55084	ECHB_HUMAN			9	964	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		238					B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	c.713G>C	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	G	33	5.213496	0.95069	.	.	ENSG00000138029	ENST00000317799;ENST00000537713;ENST00000545822	D;D;D	0.97114	-4.25;-4.25;-4.25	5.69	5.69	0.88448	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.99357	0.9774	H	0.99834	4.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.996	D	0.98188	1.0461	10	0.87932	D	0	-1.5901	18.7441	0.91785	0.0:0.0:1.0:0.0	.	223;216;238	F5GZQ3;B4E2W0;P55084	.;.;ECHB_HUMAN	P	238;223;216	ENSP00000325136:R238P;ENSP00000444295:R223P;ENSP00000442665:R216P	ENSP00000325136:R238P	R	+	2	0	HADHB	26355589	1.000000	0.71417	0.967000	0.41034	0.979000	0.70002	9.424000	0.97464	2.840000	0.97914	0.655000	0.94253	CGG		0.542	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		19	85	0	0	0	0.008871	0	19	85				
EHD3	30845	broad.mit.edu	37	2	31472333	31472333	+	Splice_Site	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:31472333G>T	ENST00000322054.5	+	3	786	c.501G>T	c.(499-501)cgG>cgT	p.R167R	EHD3_ENST00000541626.1_Splice_Site_p.R167R	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	167	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.R167R(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GGATCAGCCGGGGTAAGCAAC	0.587																																							uc002rnu.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(499-501)CGG>CGT		EH-domain containing 3							76.0	73.0	74.0					2																	31472333		2203	4300	6503	SO:0001630	splice_region_variant	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31472333G>T	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.502+1G>T	2.37:g.31472333G>T						EHD3_uc010ymt.1_Silent_p.R167R	p.R167R	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			3	1109	+	Acute lymphoblastic leukemia(172;0.155)		167					B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	c.501G>T	CCDS1774.1																																																																																				0.587	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600	Silent	20	28	1	0	5.45024e-15	0.00333	7.80573e-15	20	28				
CEBPZ	10153	broad.mit.edu	37	2	37428995	37428995	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:37428995C>G	ENST00000234170.5	-	16	3222	c.3077G>C	c.(3076-3078)aGa>aCa	p.R1026T	AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000397226.2_Intron|AC007390.5_ENST00000392061.2_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	1026					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R1026T(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTTTGCATCTCTGTTGTGTAG	0.343																																							uc002rpz.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(3076-3078)AGA>ACA		CCAAT/enhancer binding protein zeta							116.0	109.0	111.0					2																	37428995		2203	4300	6503	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37428995C>G	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.3077G>C	2.37:g.37428995C>G	ENSP00000234170:p.Arg1026Thr					uc002rpx.1_Intron|uc002rpy.1_Intron	p.R1026T	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN			16	3107	-		all_hematologic(82;0.21)	1026					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.3077G>C	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.911942	0.72983	.	.	ENSG00000115816	ENST00000234170	T	0.15139	2.45	5.73	3.85	0.44370	.	0.095333	0.64402	D	0.000002	T	0.25568	0.0622	M	0.69823	2.125	0.47214	D	0.999353	D	0.59357	0.985	P	0.51229	0.663	T	0.02333	-1.1175	10	0.87932	D	0	.	5.2018	0.15269	0.1437:0.6282:0.0:0.228	.	1026	Q03701	CEBPZ_HUMAN	T	1026	ENSP00000234170:R1026T	ENSP00000234170:R1026T	R	-	2	0	CEBPZ	37282499	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.372000	0.52387	0.694000	0.31654	-0.365000	0.07479	AGA		0.343	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		14	121	0	0	0	0.004007	0	14	121				
CEBPZ	10153	broad.mit.edu	37	2	37429980	37429980	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:37429980C>G	ENST00000234170.5	-	15	3117	c.2972G>C	c.(2971-2973)gGa>gCa	p.G991A	AC007390.5_ENST00000402297.1_3'UTR|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000392061.2_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	991					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G991A(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				AAACTTGGATCCCATATTTTC	0.274																																							uc002rpz.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2971-2973)GGA>GCA		CCAAT/enhancer binding protein zeta							66.0	70.0	68.0					2																	37429980		2203	4296	6499	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37429980C>G	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.2972G>C	2.37:g.37429980C>G	ENSP00000234170:p.Gly991Ala						p.G991A	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN			15	3002	-		all_hematologic(82;0.21)	991					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.2972G>C	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113931	0.77210	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.14640	2.49	5.79	5.79	0.91817	.	0.049680	0.85682	D	0.000000	T	0.37785	0.1016	M	0.64567	1.98	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.03202	-1.1061	10	0.87932	D	0	.	20.0326	0.97545	0.0:1.0:0.0:0.0	.	991	Q03701	CEBPZ_HUMAN	A	991	ENSP00000234170:G991A	ENSP00000234170:G991A	G	-	2	0	CEBPZ	37283484	0.995000	0.38212	1.000000	0.80357	0.981000	0.71138	2.631000	0.46502	2.732000	0.93576	0.557000	0.71058	GGA		0.274	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		9	55	0	0	0	0.004482	0	9	55				
THUMPD2	80745	broad.mit.edu	37	2	39993217	39993217	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:39993217C>A	ENST00000505747.1	-	5	810	c.783G>T	c.(781-783)gtG>gtT	p.V261V	THUMPD2_ENST00000403537.3_5'Flank|THUMPD2_ENST00000454352.2_3'UTR|THUMPD2_ENST00000260619.6_Silent_p.V231V	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	261	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.						methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.V231V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				GAATCCCCACCACAGAGTAAA	0.333																																							uc002rru.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(781-783)GTG>GTT		THUMP domain containing 2							109.0	111.0	110.0					2																	39993217		2203	4300	6503	SO:0001819	synonymous_variant	80745						methyltransferase activity	g.chr2:39993217C>A	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"""chromosome 2 open reading frame 8"""	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.783G>T	2.37:g.39993217C>A						THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Silent_p.V152V|THUMPD2_uc010ynu.1_3'UTR	p.V261V	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN			5	820	-		all_hematologic(82;0.248)	261			THUMP.		A8K7I7|Q53TT8|Q53TV0	Silent	SNP	ENST00000505747.1	37	c.783G>T	CCDS1805.2																																																																																				0.333	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264		57	77	1	0	1.7104e-27	0.00361	2.7494e-27	57	77				
SLC8A1	6546	broad.mit.edu	37	2	40655643	40655643	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:40655643C>G	ENST00000403092.1	-	2	1811	c.1778G>C	c.(1777-1779)gGa>gCa	p.G593A	SLC8A1_ENST00000332839.4_Missense_Mutation_p.G593A|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G593A|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G593A|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G593A|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G593A|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G593A|SLC8A1_ENST00000406785.2_Missense_Mutation_p.G593A|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G593A|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G593A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	593	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.G593A(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTCGAGCTCTCCACAAGTGTC	0.418																																							uc002rrx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1777-1779)GGA>GCA		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						68.0	68.0	68.0					2																	40655643		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40655643C>G		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1778G>C	2.37:g.40655643C>G	ENSP00000384763:p.Gly593Ala					SLC8A1_uc002rry.2_Missense_Mutation_p.G593A|SLC8A1_uc002rrz.2_Missense_Mutation_p.G593A|SLC8A1_uc002rsa.2_Missense_Mutation_p.G593A|SLC8A1_uc002rsd.3_Missense_Mutation_p.G593A|SLC8A1_uc002rsb.1_Missense_Mutation_p.G593A|SLC8A1_uc010fan.1_Missense_Mutation_p.G593A|SLC8A1_uc002rsc.1_Missense_Mutation_p.G593A	p.G593A	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	1802	-			593			Calx-beta 2.|Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1778G>C	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508560	0.64410	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.86	5.86	0.93980	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.76786	0.4036	H	0.95950	3.745	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.98;0.983;0.997;0.998	D	0.83373	0.0008	10	0.87932	D	0	.	18.0523	0.89353	0.0:1.0:0.0:0.0	.	593;593;593;593;593	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	A	593	ENSP00000383886:G593A;ENSP00000440727:G593A;ENSP00000384763:G593A;ENSP00000385678:G593A;ENSP00000385188:G593A;ENSP00000385535:G593A;ENSP00000332931:G593A;ENSP00000384908:G593A;ENSP00000385811:G593A;ENSP00000443515:G593A	ENSP00000332931:G593A	G	-	2	0	SLC8A1	40509147	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.621000	0.83083	2.937000	0.99478	0.650000	0.86243	GGA		0.418	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		22	38	0	0	0	0.010504	0	22	38				
PLEKHH2	130271	broad.mit.edu	37	2	43926908	43926908	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:43926908A>T	ENST00000282406.4	+	8	921	c.811A>T	c.(811-813)Aca>Tca	p.T271S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	271					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.T271S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGCTTTGCCACAGATGGTGG	0.483																																							uc010yny.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(811-813)ACA>TCA		pleckstrin homology domain containing, family H							85.0	88.0	87.0					2																	43926908		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43926908A>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.811A>T	2.37:g.43926908A>T	ENSP00000282406:p.Thr271Ser					PLEKHH2_uc002rte.3_Missense_Mutation_p.T271S|PLEKHH2_uc002rtf.3_Missense_Mutation_p.T270S	p.T271S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			8	894	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	271					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.811A>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	3.210	-0.161896	0.06502	.	.	ENSG00000152527	ENST00000282406	T	0.72394	-0.65	5.84	-2.28	0.06826	.	1.310070	0.04703	N	0.416185	T	0.45054	0.1323	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.31475	-0.9942	10	0.09338	T	0.73	-0.2572	7.1546	0.25630	0.352:0.2258:0.4222:0.0	.	271;271	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	S	271	ENSP00000282406:T271S	ENSP00000282406:T271S	T	+	1	0	PLEKHH2	43780412	0.010000	0.17322	0.001000	0.08648	0.307000	0.27823	0.429000	0.21412	0.030000	0.15379	0.533000	0.62120	ACA		0.483	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		11	91	0	0	0	0.008291	0	11	91				
NRXN1	9378	broad.mit.edu	37	2	50733708	50733708	+	Missense_Mutation	SNP	C	C	G	rs202145311		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:50733708C>G	ENST00000406316.2	-	13	3898	c.2422G>C	c.(2422-2424)Gag>Cag	p.E808Q	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.E800Q|NRXN1_ENST00000406859.3_Missense_Mutation_p.E808Q|NRXN1_ENST00000401669.2_Missense_Mutation_p.E808Q|NRXN1_ENST00000402717.3_Missense_Mutation_p.E800Q|NRXN1_ENST00000404971.1_Missense_Mutation_p.E848Q	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	808	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.E808Q(1)|p.E848Q(1)|p.E849Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTGTGCCACTCGTTATCATTG	0.443																																							uc010fbq.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(2542-2544)GAG>CAG		neurexin 1 isoform alpha2 precursor							127.0	124.0	125.0					2																	50733708		1924	4138	6062	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50733708C>G	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2422G>C	2.37:g.50733708C>G	ENSP00000384311:p.Glu808Gln					NRXN1_uc002rxb.3_Missense_Mutation_p.E480Q|NRXN1_uc002rxe.3_Missense_Mutation_p.E808Q|NRXN1_uc002rxc.1_RNA	p.E848Q	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		13	4019	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2542G>C	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875175	0.91664	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.84224	0.5425	L	0.41573	1.285	0.49130	D	0.999754	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.958;0.999;0.989	T	0.81426	-0.0938	10	0.32370	T	0.25	.	19.8388	0.96673	0.0:1.0:0.0:0.0	.	848;808;800	Q9ULB1-3;F8WB18;A7E294	.;.;.	Q	848;808;800;808;849;800;808	ENSP00000385142:E848Q;ENSP00000384311:E808Q;ENSP00000434015:E800Q;ENSP00000385017:E808Q;ENSP00000385434:E800Q;ENSP00000385681:E808Q	ENSP00000385017:E808Q	E	-	1	0	NRXN1	50587212	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.695000	0.91970	0.561000	0.74099	GAG		0.443	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			10	14	0	0	0	0.001368	0	10	14				
NRXN1	9378	broad.mit.edu	37	2	51254924	51254924	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:51254924C>T	ENST00000406316.2	-	2	1964	c.488G>A	c.(487-489)cGc>cAc	p.R163H	NRXN1_ENST00000405581.1_Missense_Mutation_p.R163H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R163H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R163H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R163H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R163H|NRXN1_ENST00000404971.1_Missense_Mutation_p.R163H	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	163	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.R163H(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGCCGCGGCGCGCAGTTCCGG	0.672																																							uc010fbq.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(487-489)CGC>CAC		neurexin 1 isoform alpha2 precursor							22.0	27.0	25.0					2																	51254924		2066	4200	6266	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:51254924C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.488G>A	2.37:g.51254924C>T	ENSP00000384311:p.Arg163His					NRXN1_uc002rxe.3_Missense_Mutation_p.R163H|NRXN1_uc002rxd.1_Missense_Mutation_p.R163H	p.R163H	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1965	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.488G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366537	0.41902	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	4.97	4.03	0.46877	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.234273	0.17801	U	0.161564	T	0.67646	0.2915	L	0.35723	1.085	0.34445	D	0.700085	B;B;P	0.34757	0.104;0.011;0.467	B;B;B	0.30179	0.112;0.008;0.073	T	0.73382	-0.4000	10	0.37606	T	0.19	.	7.79	0.29114	0.1625:0.7559:0.0:0.0816	.	163;163;163	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	H	163	ENSP00000385142:R163H;ENSP00000384311:R163H;ENSP00000434015:R163H;ENSP00000385017:R163H;ENSP00000385434:R163H;ENSP00000385681:R163H;ENSP00000385310:R163H	ENSP00000385017:R163H	R	-	2	0	NRXN1	51108428	0.980000	0.34600	0.985000	0.45067	0.953000	0.61014	2.535000	0.45685	2.293000	0.77203	0.563000	0.77884	CGC		0.672	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	18	0	0	0	0.000602	0	4	18				
SPTBN1	6711	broad.mit.edu	37	2	54852019	54852019	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:54852019G>T	ENST00000356805.4	+	11	1542	c.1261G>T	c.(1261-1263)Gaa>Taa	p.E421*	SPTBN1_ENST00000333896.5_Nonsense_Mutation_p.E408*	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	421					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.E421*(1)|p.E408*(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGAGAAACTGGAACAGCTCGC	0.483																																							uc002rxu.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(1261-1263)GAA>TAA		spectrin, beta, non-erythrocytic 1 isoform 1							77.0	75.0	75.0					2																	54852019		2203	4300	6503	SO:0001587	stop_gained	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54852019G>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1261G>T	2.37:g.54852019G>T	ENSP00000349259:p.Glu421*					SPTBN1_uc002rxv.1_Nonsense_Mutation_p.E421*|SPTBN1_uc002rxx.2_Nonsense_Mutation_p.E408*	p.E421*	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		11	1510	+			421			Spectrin 2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Nonsense_Mutation	SNP	ENST00000356805.4	37	c.1261G>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	42	9.359952	0.99148	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6936	0.96012	0.0:0.0:1.0:0.0	.	.	.	.	X	421;421;408	.	ENSP00000334156:E408X	E	+	1	0	SPTBN1	54705523	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.796000	0.99103	2.665000	0.90641	0.655000	0.94253	GAA		0.483	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			30	45	1	0	2.48696e-23	0.003271	3.93312e-23	30	45				
SPTBN1	6711	broad.mit.edu	37	2	54852032	54852032	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:54852032G>T	ENST00000356805.4	+	11	1555	c.1274G>T	c.(1273-1275)cGc>cTc	p.R425L	SPTBN1_ENST00000333896.5_Missense_Mutation_p.R412L	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	425					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.R412L(1)|p.R425L(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CAGCTCGCCCGCAGATTTGAT	0.483																																							uc002rxu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(1273-1275)CGC>CTC		spectrin, beta, non-erythrocytic 1 isoform 1							74.0	74.0	74.0					2																	54852032		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54852032G>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1274G>T	2.37:g.54852032G>T	ENSP00000349259:p.Arg425Leu					SPTBN1_uc002rxv.1_Missense_Mutation_p.R425L|SPTBN1_uc002rxx.2_Missense_Mutation_p.R412L	p.R425L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		11	1523	+			425			Spectrin 2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.1274G>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414897	0.83449	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;T	0.40476	1.03;1.03;1.03	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	L	0.52266	1.64	0.53688	D	0.999974	B;B	0.24132	0.015;0.098	B;B	0.29077	0.059;0.098	T	0.27468	-1.0073	10	0.42905	T	0.14	.	19.6936	0.96012	0.0:0.0:1.0:0.0	.	412;425	Q01082-3;Q01082	.;SPTB2_HUMAN	L	425;425;412	ENSP00000349259:R425L;ENSP00000374630:R425L;ENSP00000334156:R412L	ENSP00000334156:R412L	R	+	2	0	SPTBN1	54705536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.956000	0.87863	2.665000	0.90641	0.655000	0.94253	CGC		0.483	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			37	47	1	0	2.19962e-31	0.00874	3.59483e-31	37	47				
SERTAD2	9792	broad.mit.edu	37	2	64863326	64863326	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:64863326C>G	ENST00000313349.3	-	2	977	c.680G>C	c.(679-681)gGg>gCg	p.G227A	SERTAD2_ENST00000476805.2_5'Flank	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	227					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.G227A(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						TTCAAAATTCCCAGGCAGAGA	0.517																																							uc002sde.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(679-681)GGG>GCG		SERTA domain containing 2							88.0	85.0	86.0					2																	64863326		2203	4300	6503	SO:0001583	missense	9792				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		g.chr2:64863326C>G	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.680G>C	2.37:g.64863326C>G	ENSP00000326933:p.Gly227Ala						p.G227A	NM_014755	NP_055570	Q14140	SRTD2_HUMAN			2	977	-			227					Q53TS2	Missense_Mutation	SNP	ENST00000313349.3	37	c.680G>C	CCDS33210.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115366	0.37339	.	.	ENSG00000179833	ENST00000313349	.	.	.	6.08	6.08	0.98989	.	0.273433	0.41823	D	0.000802	T	0.66499	0.2795	L	0.55481	1.735	0.52099	D	0.999947	B	0.14805	0.011	B	0.15484	0.013	T	0.59150	-0.7508	9	0.45353	T	0.12	-6.4099	20.6634	0.99662	0.0:1.0:0.0:0.0	.	227	Q14140	SRTD2_HUMAN	A	227	.	ENSP00000326933:G227A	G	-	2	0	SERTAD2	64716830	0.962000	0.33011	0.999000	0.59377	0.934000	0.57294	3.445000	0.52921	2.894000	0.99253	0.655000	0.94253	GGG		0.517	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755		18	113	0	0	0	0.007413	0	18	113				
CLEC4F	165530	broad.mit.edu	37	2	71043307	71043307	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:71043307G>A	ENST00000272367.2	-	4	1282	c.1206C>T	c.(1204-1206)gcC>gcT	p.A402A	CLEC4F_ENST00000426626.1_Silent_p.A402A	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	402					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.A402A(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GGGAAGTTAAGGCTGAAGCAT	0.443																																					Colon(107;10 2157 6841 26035)	Colon(107;10 2157 6841 26035)	uc002shf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(1204-1206)GCC>GCT		C-type lectin, superfamily member 13							143.0	134.0	137.0					2																	71043307		2203	4300	6503	SO:0001819	synonymous_variant	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71043307G>A	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1206C>T	2.37:g.71043307G>A						CLEC4F_uc010yqv.1_Silent_p.A402A	p.A402A	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN			4	1283	-			402			Extracellular (Potential).		A4QPA5	Silent	SNP	ENST00000272367.2	37	c.1206C>T	CCDS1910.1																																																																																				0.443	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		9	89	0	0	0	0.008291	0	9	89				
HK2	3099	broad.mit.edu	37	2	75118049	75118049	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:75118049G>T	ENST00000290573.2	+	18	3335	c.2735G>T	c.(2734-2736)cGt>cTt	p.R912L	HK2_ENST00000409174.1_Missense_Mutation_p.R884L	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	912	Catalytic.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.R912L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TGCCGCATCCGTGAGGCTGGA	0.542																																							uc002snd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2734-2736)CGT>CTT		hexokinase 2							51.0	53.0	53.0					2																	75118049		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75118049G>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2735G>T	2.37:g.75118049G>T	ENSP00000290573:p.Arg912Leu						p.R912L	NM_000189	NP_000180	P52789	HXK2_HUMAN			18	4661	+			912			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.2735G>T	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021493	0.75275	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.97480	-4.4;-4.38	4.99	4.99	0.66335	.	0.056749	0.64402	D	0.000001	D	0.93769	0.8008	L	0.43598	1.365	0.80722	D	1	B	0.34264	0.446	B	0.23419	0.046	D	0.92792	0.6249	10	0.30854	T	0.27	-11.9165	15.8192	0.78626	0.0:0.0:1.0:0.0	.	912	P52789	HXK2_HUMAN	L	912;912;884	ENSP00000290573:R912L;ENSP00000387140:R884L	ENSP00000290573:R912L	R	+	2	0	HK2	74971557	1.000000	0.71417	0.961000	0.40146	0.996000	0.88848	4.459000	0.60102	2.609000	0.88269	0.561000	0.74099	CGT		0.542	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		29	25	1	0	3.90053e-15	0.002445	5.5937e-15	29	25				
DNAH6	1768	broad.mit.edu	37	2	84800703	84800703	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:84800703A>T	ENST00000237449.6	+	11	1924	c.1916A>T	c.(1915-1917)cAg>cTg	p.Q639L	DNAH6_ENST00000389394.3_Missense_Mutation_p.Q639L|DNAH6_ENST00000398278.2_Missense_Mutation_p.Q639L			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	639	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q639L(1)|p.Q218L(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CTTAAACTTCAGGAACCTGGT	0.378																																							uc010fgb.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1915-1917)CAG>CTG		dynein, axonemal, heavy polypeptide 6							92.0	103.0	100.0					2																	84800703		2202	4300	6502	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84800703A>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1916A>T	2.37:g.84800703A>T	ENSP00000237449:p.Gln639Leu					DNAH6_uc002soo.2_Missense_Mutation_p.Q218L|DNAH6_uc002sop.2_Missense_Mutation_p.Q218L	p.Q639L	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN			12	2053	+			639			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.1916A>T	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	11.69	1.712719	0.30413	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.25250	1.81;1.94;1.81	4.95	3.77	0.43336	.	0.664630	0.13032	N	0.419214	T	0.13884	0.0336	N	0.08118	0	0.23602	N	0.99731	B;B	0.14438	0.01;0.006	B;B	0.20184	0.028;0.005	T	0.29366	-1.0014	10	0.28530	T	0.3	.	10.0599	0.42268	0.8489:0.0:0.0:0.1511	.	639;218	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	L	639	ENSP00000374045:Q639L;ENSP00000381326:Q639L;ENSP00000237449:Q639L	ENSP00000237449:Q639L	Q	+	2	0	DNAH6	84654214	0.978000	0.34361	0.991000	0.47740	0.983000	0.72400	4.621000	0.61233	0.697000	0.31718	0.402000	0.26972	CAG		0.378	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		16	130	0	0	0	0.006122	0	16	130				
COX5B	1329	broad.mit.edu	37	2	98263846	98263846	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:98263846A>T	ENST00000258424.2	+	3	264	c.217A>T	c.(217-219)Acc>Tcc	p.T73S	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	73					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|metal ion binding (GO:0046872)	p.T73S(1)		endometrium(1)|lung(1)|urinary_tract(1)	3						AGCTTCAGGCACCAGGGAAGA	0.398																																							uc002sya.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(217-219)ACC>TCC		cytochrome c oxidase subunit Vb precursor							137.0	148.0	145.0					2																	98263846		2203	4300	6503	SO:0001583	missense	1329				respiratory electron transport chain|respiratory gaseous exchange	mitochondrial inner membrane	cytochrome-c oxidase activity|metal ion binding	g.chr2:98263846A>T	BC006229	CCDS2032.1	2q11.2	2011-07-04			ENSG00000135940	ENSG00000135940	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2269	protein-coding gene	gene with protein product		123866					Standard	NM_001862		Approved		uc002sya.3	P10606	OTTHUMG00000130548	ENST00000258424.2:c.217A>T	2.37:g.98263846A>T	ENSP00000258424:p.Thr73Ser						p.T73S	NM_001862	NP_001853	P10606	COX5B_HUMAN			3	246	+			73					Q53YB7|Q96J18|Q99610	Missense_Mutation	SNP	ENST00000258424.2	37	c.217A>T	CCDS2032.1	.	.	.	.	.	.	.	.	.	.	.	16.79	3.220409	0.58560	.	.	ENSG00000135940	ENST00000258424	.	.	.	5.43	5.43	0.79202	.	0.052788	0.85682	D	0.000000	T	0.59238	0.2179	M	0.71206	2.165	0.47094	D	0.999315	P	0.40476	0.718	B	0.40702	0.338	T	0.62548	-0.6831	9	0.44086	T	0.13	-26.588	13.4343	0.61076	1.0:0.0:0.0:0.0	.	73	P10606	COX5B_HUMAN	S	73	.	ENSP00000258424:T73S	T	+	1	0	COX5B	97630278	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.140000	0.58031	2.083000	0.62718	0.397000	0.26171	ACC		0.398	COX5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252972.2	NM_001862		25	221	0	0	0	0.004656	0	25	221				
TSGA10	80705	broad.mit.edu	37	2	99634668	99634668	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:99634668T>C	ENST00000393483.3	-	20	2911	c.2067A>G	c.(2065-2067)ttA>ttG	p.L689L	TSGA10_ENST00000410001.1_Silent_p.L689L|TSGA10_ENST00000355053.4_Silent_p.L689L|TSGA10_ENST00000539964.1_Silent_p.L689L	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	689	Interaction with HIF1A. {ECO:0000250}.				cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.L689L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CTCACTCTTCTAATGATCGAT	0.378																																							uc002szg.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2065-2067)TTA>TTG		testis specific, 10							94.0	89.0	91.0					2																	99634668		2203	4300	6503	SO:0001819	synonymous_variant	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99634668T>C	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.2067A>G	2.37:g.99634668T>C						TSGA10_uc002szh.3_Silent_p.L689L|TSGA10_uc002szi.3_Silent_p.L689L|TSGA10_uc010fin.1_Silent_p.L689L	p.L689L	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN			18	2695	-			689			Interaction with HIF1A (By similarity).		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Silent	SNP	ENST00000393483.3	37	c.2067A>G	CCDS2037.1																																																																																				0.378	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		3	35	0	0	0	0.004672	0	3	35				
EIF5B	9669	broad.mit.edu	37	2	99980853	99980853	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:99980853C>A	ENST00000289371.6	+	6	1459	c.1257C>A	c.(1255-1257)gcC>gcA	p.A419A		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	419					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.A419A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAGCCAGAGCCGAAGCTACTC	0.398																																					Colon(162;2388 2567 2705 3444)	Colon(162;2388 2567 2705 3444)	uc002tab.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1255-1257)GCC>GCA		eukaryotic translation initiation factor 5B							139.0	140.0	139.0					2																	99980853		1861	4099	5960	SO:0001819	synonymous_variant	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99980853C>A	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1257C>A	2.37:g.99980853C>A							p.A419A	NM_015904	NP_056988	O60841	IF2P_HUMAN			6	1441	+			419					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	ENST00000289371.6	37	c.1257C>A	CCDS42721.1																																																																																				0.398	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		16	160	1	0	3.45872e-05	0.004007	3.90465e-05	16	160				
REV1	51455	broad.mit.edu	37	2	100052327	100052327	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:100052327T>A	ENST00000258428.3	-	7	1518	c.1290A>T	c.(1288-1290)tcA>tcT	p.S430S	REV1_ENST00000393445.3_Silent_p.S430S|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	430	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.S430S(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTATACCCACTGATACAAAGA	0.323								Direct reversal of damage																															uc002tad.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1288-1290)TCA>TCT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	REV1-like isoform 1							115.0	114.0	115.0					2																	100052327		2203	4300	6503	SO:0001819	synonymous_variant	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100052327T>A	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1290A>T	2.37:g.100052327T>A						REV1_uc002tac.2_Silent_p.S430S	p.S430S	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			7	1502	-			430			UmuC.		O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	ENST00000258428.3	37	c.1290A>T	CCDS2045.1																																																																																				0.323	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		18	57	0	0	0	0.010504	0	18	57				
GPR45	11250	broad.mit.edu	37	2	105859086	105859086	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:105859086G>T	ENST00000258456.1	+	1	887	c.771G>T	c.(769-771)gtG>gtT	p.V257V		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V257V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AGGTCAGCGTGGACTTGAGCT	0.652																																							uc002tco.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(769-771)GTG>GTT		G protein-coupled receptor 45							149.0	148.0	148.0					2																	105859086		2203	4300	6503	SO:0001819	synonymous_variant	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859086G>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.771G>T	2.37:g.105859086G>T							p.V257V	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	887	+			257			Cytoplasmic (Potential).		Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	c.771G>T	CCDS2066.1																																																																																				0.652	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		28	193	1	0	3.80469e-20	0.009535	5.78765e-20	28	193				
IL36G	56300	broad.mit.edu	37	2	113742535	113742535	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:113742535T>A	ENST00000259205.4	+	5	488	c.419T>A	c.(418-420)aTt>aAt	p.I140N	IL36G_ENST00000376489.2_Missense_Mutation_p.I105N	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	140					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)		p.I140N(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GACTGGTTCATTGCCTCCTCC	0.502																																						Esophageal Squamous(44;715 981 6239 42838 46707)	uc002tio.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(418-420)ATT>AAT		interleukin 1 family, member 9							108.0	96.0	100.0					2																	113742535		2203	4300	6503	SO:0001583	missense	56300				cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113742535T>A	AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"""Interleukins and interleukin receptors"""	15741	protein-coding gene	gene with protein product	"""interleukin-1 homolog 1"", ""interleukin 1-related protein 2"", ""interleukin-1 epsilon"""	605542	"""interleukin 1 family, member 9"""	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.419T>A	2.37:g.113742535T>A	ENSP00000259205:p.Ile140Asn					IL1F9_uc010fkr.1_Missense_Mutation_p.I105N	p.I140N	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN			5	488	+			140					Q56B91|Q6UVX7|Q7RTZ9	Missense_Mutation	SNP	ENST00000259205.4	37	c.419T>A	CCDS2108.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.770548	0.31320	.	.	ENSG00000136688	ENST00000376489;ENST00000259205	T;T	0.30182	1.54;2.19	4.39	4.39	0.52855	.	0.102929	0.42682	D	0.000673	T	0.57592	0.2064	M	0.87971	2.92	0.23232	N	0.998078	D;D	0.89917	1.0;1.0	D;D	0.87578	0.988;0.998	T	0.53940	-0.8367	10	0.87932	D	0	-19.7231	10.1638	0.42868	0.0:0.0:0.0:1.0	.	105;140	Q9NZH8-2;Q9NZH8	.;IL36G_HUMAN	N	105;140	ENSP00000365672:I105N;ENSP00000259205:I140N	ENSP00000259205:I140N	I	+	2	0	IL36G	113459006	0.967000	0.33354	0.066000	0.19879	0.007000	0.05969	3.158000	0.50723	1.965000	0.57142	0.379000	0.24179	ATT		0.502	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330713.2	NM_019618		50	68	0	0	0	0.00361	0	50	68				
DDX18	8886	broad.mit.edu	37	2	118577319	118577319	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:118577319T>C	ENST00000263239.2	+	3	593	c.465T>C	c.(463-465)gaT>gaC	p.D155D	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	155					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.D155D(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGAAGCCAGATAATGATGAAG	0.413											OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc002tlh.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|lung(1)	4						c.(463-465)GAT>GAC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							79.0	79.0	79.0					2																	118577319		2203	4300	6503	SO:0001819	synonymous_variant	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118577319T>C	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.465T>C	2.37:g.118577319T>C			OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1489		p.D155D	NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN			3	564	+			155					Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Silent	SNP	ENST00000263239.2	37	c.465T>C	CCDS2120.1																																																																																				0.413	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		8	59	0	0	0	0.00308	0	8	59				
PTPN4	5775	broad.mit.edu	37	2	120723086	120723086	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:120723086G>A	ENST00000263708.2	+	25	3194	c.2423G>A	c.(2422-2424)cGt>cAt	p.R808H	PTPN4_ENST00000544261.1_Missense_Mutation_p.R441H	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	808	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.R808H(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AATGAAAGTCGTCCACTCACT	0.378																																							uc002tmf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2422-2424)CGT>CAT		protein tyrosine phosphatase, non-receptor type	Alendronate(DB00630)						117.0	101.0	106.0					2																	120723086		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120723086G>A		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2423G>A	2.37:g.120723086G>A	ENSP00000263708:p.Arg808His					PTPN4_uc010flj.1_Missense_Mutation_p.R521H|PTPN4_uc010yyr.1_Missense_Mutation_p.R441H	p.R808H	NM_002830	NP_002821	P29074	PTN4_HUMAN			25	3194	+			808			Tyrosine-protein phosphatase.		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.2423G>A	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967489	0.74131	.	.	ENSG00000088179	ENST00000263708;ENST00000544261	T;T	0.18174	2.23;2.23	5.72	5.72	0.89469	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	L	0.58302	1.8	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01409	-1.1362	10	0.27785	T	0.31	.	19.8965	0.96963	0.0:0.0:1.0:0.0	.	808	P29074	PTN4_HUMAN	H	808;441	ENSP00000263708:R808H;ENSP00000445841:R441H	ENSP00000263708:R808H	R	+	2	0	PTPN4	120439556	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.512000	0.81728	2.717000	0.92951	0.655000	0.94253	CGT		0.378	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			9	82	0	0	0	0.006214	0	9	82				
MYO7B	4648	broad.mit.edu	37	2	128338352	128338352	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:128338352C>A	ENST00000409816.2	+	9	1067	c.1035C>A	c.(1033-1035)gaC>gaA	p.D345E	MYO7B_ENST00000389524.4_Missense_Mutation_p.D345E|MYO7B_ENST00000428314.1_Missense_Mutation_p.D345E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	345	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D345E(2)|p.D345D(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACGCCTCAGACGTGATGGAGA	0.602																																							uc002top.2		NA																	4	Substitution - Missense(2)|Substitution - coding silent(2)		large_intestine(2)|lung(2)	ovary(1)|pancreas(1)	2						c.(1033-1035)GAC>GAA		myosin VIIB							55.0	57.0	56.0					2																	128338352		1993	4164	6157	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128338352C>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.1035C>A	2.37:g.128338352C>A	ENSP00000386461:p.Asp345Glu						p.D345E	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	10	1088	+	Colorectal(110;0.1)		345			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.1035C>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	0.106	-1.144973	0.01714	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.86297	-2.1;-2.1;-2.1	5.27	-8.64	0.00874	Myosin head, motor domain (2);	0.657650	0.15264	N	0.271614	T	0.54759	0.1878	N	0.00960	-1.095	0.32552	N	0.532267	B	0.18166	0.026	B	0.20184	0.028	T	0.57808	-0.7747	10	0.02654	T	1	.	11.1344	0.48367	0.0914:0.1027:0.0:0.8059	.	345	Q6PIF6	MYO7B_HUMAN	E	345	ENSP00000374175:D345E;ENSP00000415090:D345E;ENSP00000386461:D345E	ENSP00000374175:D345E	D	+	3	2	MYO7B	128054822	0.000000	0.05858	0.222000	0.23844	0.108000	0.19459	-3.809000	0.00361	-1.496000	0.01828	-0.217000	0.12591	GAC		0.602	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		10	15	1	0	1.58986e-06	0.008291	1.85916e-06	10	15				
GPR17	2840	broad.mit.edu	37	2	128408648	128408648	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:128408648C>T	ENST00000272644.3	+	3	497	c.423C>T	c.(421-423)ctC>ctT	p.L141L	LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409254.1_5'Flank|GPR17_ENST00000544369.1_Silent_p.L141L|GPR17_ENST00000486700.1_3'UTR|GPR17_ENST00000393018.3_Silent_p.L141L|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000410011.1_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	141					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.L141L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TCTTCTACCTCAACATGTACG	0.607																																							uc010yzn.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(421-423)CTC>CTT		G protein-coupled receptor 17 isoform a							113.0	98.0	103.0					2																	128408648		2203	4300	6503	SO:0001819	synonymous_variant	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408648C>T		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.423C>T	2.37:g.128408648C>T						LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Silent_p.L141L|GPR17_uc010yzo.1_Silent_p.L113L|GPR17_uc002tpd.2_Silent_p.L113L	p.L141L	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1034	+	Colorectal(110;0.1)	Ovarian(717;0.15)	141			Helical; Name=3; (Potential).		A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Silent	SNP	ENST00000272644.3	37	c.423C>T	CCDS2148.1																																																																																				0.607	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			10	114	0	0	0	0.008291	0	10	114				
WDR33	55339	broad.mit.edu	37	2	128477639	128477639	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:128477639C>G	ENST00000322313.4	-	16	2118	c.1960G>C	c.(1960-1962)Gga>Cga	p.G654R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	654	Collagen-like.				mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G654R(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CCCTGTGGTCCCATGAATCCT	0.642																																							uc002tpg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1960-1962)GGA>CGA		WD repeat domain 33 isoform 1							39.0	44.0	42.0					2																	128477639		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128477639C>G		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1960G>C	2.37:g.128477639C>G	ENSP00000325377:p.Gly654Arg						p.G654R	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	16	2143	-	Colorectal(110;0.1)		654			Collagen-like.		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.1960G>C	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970655	0.53614	.	.	ENSG00000136709	ENST00000322313	D	0.95307	-3.67	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.94820	0.8327	M	0.86805	2.84	0.80722	D	1	B	0.28636	0.218	B	0.23150	0.044	D	0.94067	0.7332	10	0.72032	D	0.01	-9.6731	17.8845	0.88850	0.0:1.0:0.0:0.0	.	654	Q9C0J8	WDR33_HUMAN	R	654	ENSP00000325377:G654R	ENSP00000325377:G654R	G	-	1	0	WDR33	128194109	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.918000	0.69996	2.463000	0.83235	0.585000	0.79938	GGA		0.642	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		18	61	0	0	0	0.010504	0	18	61				
LRP1B	53353	broad.mit.edu	37	2	141113955	141113955	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:141113955C>A	ENST00000389484.3	-	75	12457	c.11486G>T	c.(11485-11487)tGt>tTt	p.C3829F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3829	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.C3829F(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)		TCCAGGCTTACAGCGACAGAA	0.358										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	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.(11485-11487)TGT>TTT		low density lipoprotein-related protein 1B							128.0	129.0	129.0					2																	141113955		2202	4300	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141113955C>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.11486G>T	2.37:g.141113955C>A	ENSP00000374135:p.Cys3829Phe	TSP Lung(27;0.18)					p.C3829F	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)	75	12458	-		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)	3829			Extracellular (Potential).|EGF-like 8.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11486G>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.03|19.03	3.748806|3.748806	0.69533|0.69533	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.93076|.	-3.16|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);|.	0.062472|.	0.64402|.	D|.	0.000003|.	T|T	0.66577|0.66577	0.2803|0.2803	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.80764|.	0.994|.	T|T	0.59899|0.59899	-0.7367|-0.7367	10|5	0.87932|.	D|.	0|.	.|.	20.1162|20.1162	0.97934|0.97934	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3829|.	Q9NZR2|.	LRP1B_HUMAN|.	F|L	3829;3767|61	ENSP00000374135:C3829F|.	ENSP00000374135:C3829F|.	C|V	-|-	2|1	0|0	LRP1B|LRP1B	140830425|140830425	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.456000|7.456000	0.80751|0.80751	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	TGT|GTA		0.358	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		51	77	1	0	1.32667e-27	0.00361	2.13576e-27	51	77				
LRP1B	53353	broad.mit.edu	37	2	141680576	141680576	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:141680576G>T	ENST00000389484.3	-	21	4248	c.3277C>A	c.(3277-3279)Cga>Aga	p.R1093R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1093					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.R1093R(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)		TCACACAATCGTATGGTACCA	0.453										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	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.(3277-3279)CGA>AGA		low density lipoprotein-related protein 1B							236.0	208.0	217.0					2																	141680576		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141680576G>T	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.3277C>A	2.37:g.141680576G>T		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Silent_p.R275R	p.R1093R	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)	21	4249	-		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)	1093			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.3277C>A	CCDS2182.1																																																																																				0.453	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		70	171	1	0	9.42754e-34	0.00361	1.5549e-33	70	171				
LRP1B	53353	broad.mit.edu	37	2	141777508	141777508	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:141777508C>A	ENST00000389484.3	-	12	2924	c.1953G>T	c.(1951-1953)gtG>gtT	p.V651V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	651					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.V651V(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)		CTGGATCCACCACAATTCCTC	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	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.(1951-1953)GTG>GTT		low density lipoprotein-related protein 1B							85.0	85.0	85.0					2																	141777508		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141777508C>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.1953G>T	2.37:g.141777508C>A		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.V651V	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)	12	2925	-		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)	651			Extracellular (Potential).|LDL-receptor class B 6.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.1953G>T	CCDS2182.1																																																																																				0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		40	82	1	0	1.00001e-27	0.009718	1.61229e-27	40	82				
ZEB2	9839	broad.mit.edu	37	2	145156310	145156311	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:145156310_145156311GG>TT	ENST00000558170.2	-	8	3627_3628	c.2443_2444CC>AA	c.(2443-2445)CCt>AAt	p.P815N	ZEB2_ENST00000409487.3_Missense_Mutation_p.P815N|ZEB2_ENST00000539609.3_Missense_Mutation_p.P791N|ZEB2_ENST00000303660.4_Missense_Mutation_p.P815N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	815					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.P815N(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CAAGTCTAAAGGCTCAGCCTGG	0.386																																					Melanoma(33;1235 1264 5755 16332)	Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(2443-2445)CCT>AAT		zinc finger homeobox 1b																																				SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145156310_145156311GG>TT	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2443_2444delinsTT	2.37:g.145156310_145156311delinsTT	ENSP00000454157:p.Pro815Asn					ZEB2_uc002tvv.2_Missense_Mutation_p.P809N|ZEB2_uc010zbm.1_Missense_Mutation_p.P786N|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.P844N	p.P815N	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2923_2924	-			815					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	DNP	ENST00000558170.2	37	c.2443_2444CC>AA	CCDS2186.1																																																																																				0.386	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		57	112	0	0	0	0.004672	0	57	112				
RIF1	55183	broad.mit.edu	37	2	152322272	152322272	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:152322272A>T	ENST00000243326.5	+	29	6721	c.6238A>T	c.(6238-6240)Att>Ttt	p.I2080F	RIF1_ENST00000430328.2_Missense_Mutation_p.I2080F|RIF1_ENST00000428287.2_Missense_Mutation_p.I2080F|RIF1_ENST00000444746.2_Missense_Mutation_p.I2080F|RIF1_ENST00000453091.2_Missense_Mutation_p.I2080F			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.I2080F(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGAAGGAATCATTGACGCTAA	0.333																																							uc002txm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(6238-6240)ATT>TTT		RAP1 interacting factor 1							82.0	79.0	80.0					2																	152322272		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152322272A>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6238A>T	2.37:g.152322272A>T	ENSP00000243326:p.Ile2080Phe					RIF1_uc002txl.2_Missense_Mutation_p.I2080F|RIF1_uc002txn.2_Missense_Mutation_p.I2080F|RIF1_uc002txo.2_Missense_Mutation_p.I2080F|RIF1_uc002txp.2_RNA	p.I2080F	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	30	6368	+			2080			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.6238A>T	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.845852	0.32606	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.10860	2.83;2.84;2.84;2.83;2.84	4.87	-3.08	0.05347	.	1.418280	0.04683	N	0.412765	T	0.06508	0.0167	N	0.08118	0	0.09310	N	1	B;B	0.31174	0.026;0.311	B;B	0.29353	0.039;0.101	T	0.42766	-0.9432	10	0.66056	D	0.02	-0.2912	11.4142	0.49943	0.1301:0.0:0.7371:0.1328	.	2080;2080	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	F	2080	ENSP00000390181:I2080F;ENSP00000414615:I2080F;ENSP00000415691:I2080F;ENSP00000243326:I2080F;ENSP00000416123:I2080F	ENSP00000243326:I2080F	I	+	1	0	RIF1	152030518	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.283000	0.08433	-0.425000	0.07371	-1.117000	0.02048	ATT		0.333	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			9	66	0	0	0	0.004482	0	9	66				
NEB	4703	broad.mit.edu	37	2	152410462	152410462	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:152410462G>T	ENST00000172853.10	-	98	14550	c.14403C>A	c.(14401-14403)gcC>gcA	p.A4801A	NEB_ENST00000397345.3_Silent_p.A6502A|NEB_ENST00000603639.1_Silent_p.A6502A|NEB_ENST00000409198.1_Silent_p.A4801A|NEB_ENST00000427231.2_Silent_p.A6502A|NEB_ENST00000604864.1_Silent_p.A6502A			P20929	NEBU_HUMAN	nebulin	4801					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.A4801A(1)|p.A6502A(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGAATCCTTGGCAGTAACCA	0.463																																							uc010fnx.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(14401-14403)GCC>GCA		nebulin isoform 3							188.0	183.0	184.0					2																	152410462		1959	4151	6110	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152410462G>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.14403C>A	2.37:g.152410462G>T						NEB_uc002txr.2_Silent_p.A1224A	p.A4801A	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	98	14594	-			4801			Nebulin 131.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.14403C>A																																																																																					0.463	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		63	165	1	0	7.59065e-32	0.00361	1.24242e-31	63	165				
NEB	4703	broad.mit.edu	37	2	152534675	152534675	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:152534675C>A	ENST00000172853.10	-	33	3429	c.3282G>T	c.(3280-3282)aaG>aaT	p.K1094N	NEB_ENST00000397345.3_Missense_Mutation_p.K1094N|NEB_ENST00000603639.1_Missense_Mutation_p.K1094N|NEB_ENST00000409198.1_Missense_Mutation_p.K1094N|NEB_ENST00000427231.2_Missense_Mutation_p.K1094N|NEB_ENST00000604864.1_Missense_Mutation_p.K1094N			P20929	NEBU_HUMAN	nebulin	1094					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.K1094N(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCCTTTAGCCTTTTCATAGT	0.363																																							uc010fnx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(3280-3282)AAG>AAT		nebulin isoform 3							49.0	44.0	46.0					2																	152534675		1812	4079	5891	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152534675C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.3282G>T	2.37:g.152534675C>A	ENSP00000172853:p.Lys1094Asn						p.K1094N	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	33	3473	-			1094			Nebulin 26.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.3282G>T		.	.	.	.	.	.	.	.	.	.	C	14.47	2.545188	0.45280	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.59	-1.2	0.09554	.	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	M	0.90542	3.125	0.80722	D	1	P	0.46277	0.875	P	0.53185	0.72	T	0.62982	-0.6738	10	0.59425	D	0.04	.	3.9574	0.09396	0.11:0.4031:0.1133:0.3737	.	1094	P20929	NEBU_HUMAN	N	1094	ENSP00000386259:K1094N;ENSP00000380505:K1094N;ENSP00000416578:K1094N;ENSP00000172853:K1094N	ENSP00000172853:K1094N	K	-	3	2	NEB	152242921	0.443000	0.25641	0.988000	0.46212	0.986000	0.74619	-0.213000	0.09305	-0.444000	0.07170	-0.294000	0.09567	AAG		0.363	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		4	46	1	0	0.00909568	0.009096	0.00951997	4	46				
KCNJ3	3760	broad.mit.edu	37	2	155711814	155711814	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:155711814C>G	ENST00000295101.2	+	3	1972	c.1495C>G	c.(1495-1497)Cgc>Ggc	p.R499G		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	499					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.R499G(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GAACTCTGATCGCTTCACATA	0.408																																							uc002tyv.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(1495-1497)CGC>GGC		potassium inwardly-rectifying channel J3	Halothane(DB01159)						19.0	19.0	19.0					2																	155711814		2203	4299	6502	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711814C>G	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1495C>G	2.37:g.155711814C>G	ENSP00000295101:p.Arg499Gly					KCNJ3_uc010zce.1_3'UTR	p.R499G	NM_002239	NP_002230	P48549	IRK3_HUMAN			3	1690	+			499			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1495C>G	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381446	0.42207	.	.	ENSG00000162989	ENST00000295101	D	0.91124	-2.79	5.66	3.83	0.44106	.	0.684706	0.14130	N	0.339456	D	0.90817	0.7116	N	0.19112	0.55	0.80722	D	1	D	0.60160	0.987	D	0.65010	0.931	D	0.90105	0.4187	10	0.87932	D	0	.	14.2413	0.65959	0.2865:0.7135:0.0:0.0	.	499	P48549	IRK3_HUMAN	G	499	ENSP00000295101:R499G	ENSP00000295101:R499G	R	+	1	0	KCNJ3	155420060	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.804000	0.55568	0.818000	0.34468	0.655000	0.94253	CGC		0.408	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		2	15	0	0	0	0.004672	0	2	15				
LY75	4065	broad.mit.edu	37	2	160728993	160728993	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:160728993C>A	ENST00000263636.4	-	13	2113	c.2086G>T	c.(2086-2088)Gaa>Taa	p.E696*	LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.E696*|LY75_ENST00000553424.1_Nonsense_Mutation_p.E696*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.E696*|LY75_ENST00000554112.1_Nonsense_Mutation_p.E696*	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	696	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.E696*(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGAAGAAATTCCTTTATTTCA	0.373																																							uc002ubc.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(2086-2088)GAA>TAA		lymphocyte antigen 75 precursor							110.0	120.0	116.0					2																	160728993		2203	4300	6503	SO:0001587	stop_gained	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160728993C>A	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2086G>T	2.37:g.160728993C>A	ENSP00000263636:p.Glu696*					LY75_uc002ubb.3_Nonsense_Mutation_p.E696*|LY75_uc010fos.2_Nonsense_Mutation_p.E696*|LY75_uc010fot.1_Nonsense_Mutation_p.E696*	p.E696*	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	13	2155	-			696			Extracellular (Potential).|C-type lectin 4.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Nonsense_Mutation	SNP	ENST00000263636.4	37	c.2086G>T	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748251	0.69533	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	.	.	.	5.17	3.36	0.38483	.	0.477506	0.15400	U	0.264372	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-4.7412	8.7018	0.34329	0.0:0.7568:0.0:0.2432	.	.	.	.	X	696	.	ENSP00000423463:E696X	E	-	1	0	LY75;LY75-CD302	160437239	0.997000	0.39634	0.920000	0.36463	0.092000	0.18411	0.961000	0.29267	0.685000	0.31468	-0.350000	0.07774	GAA		0.373	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			15	179	1	0	0.000219431	0.00245	0.00024066	15	179				
TBR1	10716	broad.mit.edu	37	2	162272897	162272897	+	5'UTR	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:162272897G>T	ENST00000389554.3	+	0	293				TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1						axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						AGGGACGGGAGGGCGAGTGTT	0.463																																							uc002ubw.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(-26--22)GAGGG>GATGG		T-box, brain, 1							55.0	59.0	58.0					2																	162272897		2203	4300	6503	SO:0001623	5_prime_UTR_variant	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162272897G>T	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.-25G>T	2.37:g.162272897G>T						TBR1_uc010foy.2_5'Flank		NM_006593	NP_006584	Q16650	TBR1_HUMAN			1	278	+								B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Translation_Start_Site	SNP	ENST00000389554.3	37	c.-24G>T	CCDS33310.1																																																																																				0.463	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		12	177	1	0	0.00010058	0.001368	0.00011133	12	177				
FAP	2191	broad.mit.edu	37	2	163070536	163070536	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:163070536C>A	ENST00000188790.4	-	11	1121	c.914G>T	c.(913-915)tGt>tTt	p.C305F	FAP_ENST00000443424.1_Missense_Mutation_p.C280F	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.C305F(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCACTGCAAACATACTCGTTC	0.408																																							uc002ucd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(913-915)TGT>TTT		fibroblast activation protein, alpha subunit							114.0	111.0	112.0					2																	163070536		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163070536C>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.914G>T	2.37:g.163070536C>A	ENSP00000188790:p.Cys305Phe					FAP_uc010zct.1_Missense_Mutation_p.C280F|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.C272F	p.C305F	NM_004460	NP_004451	Q12884	SEPR_HUMAN			11	1122	-			305			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.914G>T	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.240864	0.58995	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	D;T	0.95377	-3.69;1.73	5.53	5.53	0.82687	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.108411	0.64402	D	0.000011	D	0.94470	0.8220	L	0.42245	1.32	0.40796	D	0.983293	B;P;P	0.45474	0.014;0.859;0.859	B;P;P	0.49421	0.011;0.61;0.61	D	0.93496	0.6840	10	0.31617	T	0.26	-23.8421	14.9971	0.71439	0.0:0.8579:0.142:0.0	.	280;305;305	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	F	305;280	ENSP00000188790:C305F;ENSP00000411391:C280F	ENSP00000188790:C305F	C	-	2	0	FAP	162778782	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.711000	0.61881	2.607000	0.88179	0.655000	0.94253	TGT		0.408	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			50	152	1	0	2.0833e-19	0.00361	3.14246e-19	50	152				
SCN3A	6328	broad.mit.edu	37	2	165948857	165948857	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:165948857C>T	ENST00000360093.3	-	27	5205	c.4714G>A	c.(4714-4716)Gaa>Aaa	p.E1572K	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000283254.7_Missense_Mutation_p.E1572K|SCN3A_ENST00000540861.1_Missense_Mutation_p.E55K|SCN3A_ENST00000409101.3_Missense_Mutation_p.E1523K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1572					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E1572K(1)|p.E1523K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCACAAATTCTCCAGTGAAC	0.453																																							uc002ucx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(4714-4716)GAA>AAA		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						161.0	134.0	143.0					2																	165948857		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165948857C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4714G>A	2.37:g.165948857C>T	ENSP00000353206:p.Glu1572Lys					SCN3A_uc010zcy.1_Missense_Mutation_p.E55K|SCN3A_uc002ucy.2_Missense_Mutation_p.E1523K|SCN3A_uc002ucz.2_Missense_Mutation_p.E1523K	p.E1572K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			27	5206	-			1572			Helical; Name=S2 of repeat IV; (Potential).		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4714G>A		.	.	.	.	.	.	.	.	.	.	C	37	6.012980	0.97200	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.98822	-5.16;-5.16;-5.16;-5.16	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	H	0.99867	4.865	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.964	D;D;P	0.83275	0.991;0.996;0.73	D	0.97199	0.9863	10	0.87932	D	0	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	1523;1523;1572	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	K	1572;1572;1523;55	ENSP00000353206:E1572K;ENSP00000283254:E1572K;ENSP00000386726:E1523K;ENSP00000439920:E55K	ENSP00000283254:E1572K	E	-	1	0	SCN3A	165657103	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.776000	0.85560	2.894000	0.99253	0.591000	0.81541	GAA		0.453	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		11	134	0	0	0	0.000978	0	11	134				
SCN2A	6326	broad.mit.edu	37	2	166168555	166168555	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:166168555G>T	ENST00000375437.2	+	8	1281	c.991G>T	c.(991-993)Ggg>Tgg	p.G331W	SCN2A_ENST00000375427.2_Missense_Mutation_p.G331W|SCN2A_ENST00000357398.3_Missense_Mutation_p.G331W|SCN2A_ENST00000283256.6_Missense_Mutation_p.G331W	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	331					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.G331W(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTTTTAGAGGGGCAAAATGA	0.413																																							uc002udc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(991-993)GGG>TGG		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						112.0	108.0	109.0					2																	166168555		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166168555G>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.991G>T	2.37:g.166168555G>T	ENSP00000364586:p.Gly331Trp					SCN2A_uc002udd.2_Missense_Mutation_p.G331W|SCN2A_uc002ude.2_Missense_Mutation_p.G331W	p.G331W	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			8	1281	+			331			I.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.991G>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177784	0.78564	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.97089	-4.24;-4.23;-4.24;-4.23;-4.24	5.34	5.34	0.76211	Ion transport (1);	1.657620	0.02921	N	0.137951	D	0.99115	0.9695	H	0.96460	3.825	0.58432	D	0.999999	D;D	0.69078	0.996;0.997	D;D	0.67548	0.952;0.943	D	0.94595	0.7791	10	0.72032	D	0.01	.	12.7354	0.57220	0.0756:0.0:0.9244:0.0	.	331;331	Q99250-2;Q99250	.;SCN2A_HUMAN	W	331	ENSP00000406454:G331W;ENSP00000364586:G331W;ENSP00000349973:G331W;ENSP00000283256:G331W;ENSP00000364576:G331W	ENSP00000283256:G331W	G	+	1	0	SCN2A	165876801	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.919000	0.63383	2.639000	0.89480	0.655000	0.94253	GGG		0.413	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		6	55	1	0	8.12818e-05	0.001984	9.0248e-05	6	55				
SCN2A	6326	broad.mit.edu	37	2	166210846	166210846	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:166210846C>A	ENST00000375437.2	+	17	3354	c.3064C>A	c.(3064-3066)Cgt>Agt	p.R1022S	SCN2A_ENST00000375427.2_Missense_Mutation_p.R1022S|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1022S|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1022S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1022					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R1022S(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGAAAAATACGTGAATTTAT	0.338																																							uc002udc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(3064-3066)CGT>AGT		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						93.0	100.0	98.0					2																	166210846		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166210846C>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3064C>A	2.37:g.166210846C>A	ENSP00000364586:p.Arg1022Ser					SCN2A_uc002udd.2_Missense_Mutation_p.R1022S|SCN2A_uc002ude.2_Missense_Mutation_p.R1022S	p.R1022S	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			17	3354	+			1022					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.3064C>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024577	0.35701	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.5	5.5	0.81552	Sodium ion transport-associated (1);	0.000000	0.64402	D	0.000002	D	0.89227	0.6655	M	0.82923	2.615	0.48452	D	0.999657	B;B	0.27229	0.09;0.172	B;B	0.44085	0.091;0.44	D	0.85575	0.1236	10	0.22706	T	0.39	.	19.3835	0.94546	0.0:1.0:0.0:0.0	.	1022;1022	Q99250-2;Q99250	.;SCN2A_HUMAN	S	1022	ENSP00000364586:R1022S;ENSP00000349973:R1022S;ENSP00000283256:R1022S;ENSP00000364576:R1022S	ENSP00000283256:R1022S	R	+	1	0	SCN2A	165919092	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.892000	0.63193	2.563000	0.86464	0.591000	0.81541	CGT		0.338	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		36	239	1	0	9.8876e-21	0.004878	1.51479e-20	36	239				
SCN1A	6323	broad.mit.edu	37	2	166903468	166903468	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:166903468T>A	ENST00000303395.4	-	9	1188	c.1189A>T	c.(1189-1191)Aaa>Taa	p.K397*	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.K397*|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.K397*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.K397*|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	397					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.K397*(2)		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)	ATGTACGTTTTCCCAGCAGCA	0.368																																							uc010zcz.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(1189-1191)AAA>TAA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						88.0	86.0	86.0					2																	166903468		2203	4300	6503	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166903468T>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.1189A>T	2.37:g.166903468T>A	ENSP00000303540:p.Lys397*					SCN1A_uc002udo.3_Nonsense_Mutation_p.K266*|SCN1A_uc010fpk.2_Nonsense_Mutation_p.K266*	p.K397*	NM_006920	NP_008851	P35498	SCN1A_HUMAN			9	1207	-			397			I.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.1189A>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	38	6.846151	0.97881	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8917	0.79303	0.0:0.0:0.0:1.0	.	.	.	.	X	397	.	ENSP00000303540:K397X	K	-	1	0	SCN1A	166611714	1.000000	0.71417	0.979000	0.43373	0.917000	0.54804	7.994000	0.88315	2.212000	0.71576	0.533000	0.62120	AAA		0.368	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		27	123	0	0	0	0.005443	0	27	123				
XIRP2	129446	broad.mit.edu	37	2	168106557	168106557	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:168106557A>T	ENST00000409195.1	+	9	8744	c.8655A>T	c.(8653-8655)aaA>aaT	p.K2885N	XIRP2_ENST00000409273.1_Missense_Mutation_p.K2663N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K2885N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2710					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.K2885N(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						AACATAAAAAATTGCCCCAGC	0.378																																							uc002udx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(8653-8655)AAA>AAT		xin actin-binding repeat containing 2 isoform 1							72.0	70.0	70.0					2																	168106557		1841	4084	5925	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106557A>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.8655A>T	2.37:g.168106557A>T	ENSP00000386840:p.Lys2885Asn					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K2710N|XIRP2_uc010fpq.2_Missense_Mutation_p.K2663N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.K231N	p.K2885N	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8673	+			2710					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.8655A>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	8.054	0.766741	0.15983	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02656	4.23;4.23;4.21	6.02	3.58	0.41010	.	0.762839	0.13234	N	0.403380	T	0.03695	0.0105	L	0.47716	1.5	0.09310	N	1	B;B;B	0.17667	0.013;0.023;0.023	B;B;B	0.18871	0.01;0.023;0.023	T	0.38929	-0.9638	10	0.51188	T	0.08	-6.4442	7.1647	0.25683	0.7785:0.1463:0.0752:0.0	.	2710;2710;2663	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	2885;2885;2663;299	ENSP00000386840:K2885N;ENSP00000295237:K2885N;ENSP00000387255:K2663N	ENSP00000295237:K2885N	K	+	3	2	XIRP2	167814803	0.377000	0.25106	0.097000	0.21041	0.652000	0.38707	1.396000	0.34531	0.492000	0.27815	0.533000	0.62120	AAA		0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		29	111	0	0	0	0.008361	0	29	111				
ABCB11	8647	broad.mit.edu	37	2	169791861	169791861	+	Silent	SNP	A	A	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:169791861A>C	ENST00000263817.6	-	23	3013	c.2889T>G	c.(2887-2889)ctT>ctG	p.L963L		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	963	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.L963L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GCTCAGTCTCAAGTGCTTCAA	0.438																																							uc002ueo.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(2887-2889)CTT>CTG		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						133.0	130.0	131.0					2																	169791861		1902	4122	6024	SO:0001819	synonymous_variant	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169791861A>C	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2889T>G	2.37:g.169791861A>C						ABCB11_uc010zda.1_Silent_p.L405L|ABCB11_uc010zdb.1_Silent_p.L439L	p.L963L	NM_003742	NP_003733	O95342	ABCBB_HUMAN			23	3015	-			963			Cytoplasmic (Potential).|ABC transmembrane type-1 2.		Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	c.2889T>G	CCDS46444.1																																																																																				0.438	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		19	181	0	0	0	0.010504	0	19	181				
LRP2	4036	broad.mit.edu	37	2	170048350	170048350	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:170048350C>G	ENST00000263816.3	-	48	9309	c.9024G>C	c.(9022-9024)aaG>aaC	p.K3008N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3008	LDL-receptor class A 23. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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.K3008N(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)"""	ACCTGAATATCTTTGGGATAC	0.488																																							uc002ues.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(9022-9024)AAG>AAC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						97.0	93.0	94.0					2																	170048350		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.chr2:170048350C>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.9024G>C	2.37:g.170048350C>G	ENSP00000263816:p.Lys3008Asn						p.K3008N	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	48	9237	-			3008			LDL-receptor class A 23.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9024G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	8.773	0.926383	0.18056	.	.	ENSG00000081479	ENST00000263816	D	0.95518	-3.73	5.72	-9.2	0.00682	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.956985	0.08759	N	0.898054	D	0.84293	0.5440	N	0.20685	0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74028	-0.3796	10	0.15066	T	0.55	.	0.7853	0.01047	0.2794:0.3191:0.1859:0.2156	.	3008	P98164	LRP2_HUMAN	N	3008	ENSP00000263816:K3008N	ENSP00000263816:K3008N	K	-	3	2	LRP2	169756596	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.392000	0.07314	-2.802000	0.00351	-2.000000	0.00444	AAG		0.488	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		10	122	0	0	0	0.000978	0	10	122				
KLHL23	151230	broad.mit.edu	37	2	170592412	170592412	+	Silent	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:170592412A>T	ENST00000392647.2	+	2	1132	c.888A>T	c.(886-888)acA>acT	p.T296T	KLHL23_ENST00000272797.4_Silent_p.T296T|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	296								p.T296T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						ATCCTTTGACAAATGTTTGGA	0.423																																							uc002ufh.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(886-888)ACA>ACT		kelch-like 23							113.0	114.0	114.0					2																	170592412		2203	4300	6503	SO:0001819	synonymous_variant	151230							g.chr2:170592412A>T	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.888A>T	2.37:g.170592412A>T						KLHL23_uc002ufi.1_Silent_p.T296T	p.T296T	NM_144711	NP_653312	Q8NBE8	KLH23_HUMAN			4	1226	+			296			Kelch 1.		Q8N9B9|Q96FT8	Silent	SNP	ENST00000392647.2	37	c.888A>T	CCDS2236.1																																																																																				0.423	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		119	238	0	0	0	0.00361	0	119	238				
GORASP2	26003	broad.mit.edu	37	2	171822343	171822343	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:171822343C>T	ENST00000234160.4	+	10	1877	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	GORASP2_ENST00000452526.2_Silent_p.G366G|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	354	Pro-rich.				mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.G354G(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						ACTTACCTGGCATTGCACCTC	0.562																																							uc002ugk.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1060-1062)GGC>GGT		golgi reassembly stacking protein 2							198.0	145.0	163.0					2																	171822343		2203	4300	6503	SO:0001819	synonymous_variant	26003					Golgi membrane		g.chr2:171822343C>T		CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"""golgi reassembly stacking protein 2, 55 kDa"""			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.1062C>T	2.37:g.171822343C>T						GORASP2_uc002ugj.2_Silent_p.G286G|GORASP2_uc010zdl.1_Silent_p.G366G|GORASP2_uc010zdm.1_Silent_p.G310G|GORASP2_uc002ugl.2_Silent_p.G286G|GORASP2_uc002ugm.2_Silent_p.G136G	p.G354G	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN			10	1202	+			354			Pro-rich.		B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Silent	SNP	ENST00000234160.4	37	c.1062C>T	CCDS33325.1																																																																																				0.562	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2			13	161	0	0	0	0.003163	0	13	161				
WIPF1	7456	broad.mit.edu	37	2	175440024	175440024	+	Missense_Mutation	SNP	C	C	T	rs561738348	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:175440024C>T	ENST00000392547.2	-	4	365	c.266G>A	c.(265-267)gGt>gAt	p.G89D	WIPF1_ENST00000359761.3_Missense_Mutation_p.G89D|WIPF1_ENST00000409891.1_Missense_Mutation_p.G89D|WIPF1_ENST00000409415.3_Missense_Mutation_p.G89D|WIPF1_ENST00000392546.2_Missense_Mutation_p.G89D|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.G89D|WIPF1_ENST00000410117.1_Missense_Mutation_p.G89D|AC018890.6_ENST00000442996.1_RNA|AC010894.5_ENST00000454203.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	89	Gly-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.G89D(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						aaaacttccaccgcctccgcc	0.602																																							uc002uiy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(265-267)GGT>GAT		WAS/WASL interacting protein family, member 1							74.0	79.0	77.0					2																	175440024		2203	4300	6503	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175440024C>T	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.266G>A	2.37:g.175440024C>T	ENSP00000376330:p.Gly89Asp					uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.G89D|WIPF1_uc010fqt.1_Missense_Mutation_p.G89D|WIPF1_uc002ujc.1_Missense_Mutation_p.G89D|WIPF1_uc002uiz.2_Missense_Mutation_p.G89D|WIPF1_uc002ujb.1_Missense_Mutation_p.G89D|WIPF1_uc010zep.1_Missense_Mutation_p.G89D	p.G89D	NM_003387	NP_003378	O43516	WIPF1_HUMAN			5	598	-			89			Gly-rich.		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.266G>A	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.182459	0.38511	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117;ENST00000436221	D;D;D;D;D;D;T;T;T	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-0.1;-1.29;-1.29	4.28	3.4	0.38934	.	0.496538	0.19175	N	0.120821	D	0.89329	0.6684	M	0.74881	2.28	0.09310	N	0.999995	P;B;B;B	0.44946	0.846;0.267;0.078;0.094	P;B;B;B	0.44811	0.461;0.058;0.087;0.039	T	0.82428	-0.0462	10	0.54805	T	0.06	.	12.6632	0.56826	0.0:0.8353:0.1647:0.0	.	89;89;89;89	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	D	89;89;89;89;89;89;89;86;89;89	ENSP00000376330:G89D;ENSP00000272746:G89D;ENSP00000352802:G89D;ENSP00000376329:G89D;ENSP00000386431:G89D;ENSP00000387150:G89D;ENSP00000391785:G86D;ENSP00000386757:G89D;ENSP00000388454:G89D	ENSP00000272746:G89D	G	-	2	0	WIPF1	175148270	0.454000	0.25728	0.030000	0.17652	0.019000	0.09904	2.982000	0.49337	1.025000	0.39708	-0.443000	0.05667	GGT		0.602	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		17	161	0	0	0	0.00499	0	17	161				
AGPS	8540	broad.mit.edu	37	2	178326701	178326701	+	Silent	SNP	C	C	T	rs146526791		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:178326701C>T	ENST00000264167.4	+	9	1097	c.951C>T	c.(949-951)cgC>cgT	p.R317R	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	317	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.R317R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TATCTACTCGCGCATCAGGCA	0.333																																							uc002ull.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(949-951)CGC>CGT		alkyldihydroxyacetone phosphate synthase		G		4,4402		0,4,2199	96.0	92.0	93.0		951	1.5	1.0	2	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous	AGPS	NM_003659.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		317/659	178326701	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178326701C>T	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.951C>T	2.37:g.178326701C>T						AGPS_uc010zfb.1_Silent_p.R227R	p.R317R	NM_003659	NP_003650	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		9	998	+			317			FAD-binding PCMH-type.		A5D8U9|Q2TU35	Silent	SNP	ENST00000264167.4	37	c.951C>T	CCDS2275.1																																																																																				0.333	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			11	106	0	0	0	0.000978	0	11	106				
RBM45	129831	broad.mit.edu	37	2	178981037	178981037	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:178981037G>A	ENST00000286070.5	+	2	441	c.349G>A	c.(349-351)Gat>Aat	p.D117N		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	117					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D117N(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AGATGTTGAAGATGAAGAACT	0.343																																							uc002ulv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(349-351)GAT>AAT		RNA binding motif protein 45							139.0	141.0	140.0					2																	178981037		2203	4300	6503	SO:0001583	missense	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178981037G>A	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.349G>A	2.37:g.178981037G>A	ENSP00000286070:p.Asp117Asn						p.D117N	NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		2	441	+			117					Q6NYL0|Q8NFC9	Missense_Mutation	SNP	ENST00000286070.5	37	c.349G>A	CCDS33335.1	.	.	.	.	.	.	.	.	.	.	G	34	5.361731	0.95877	.	.	ENSG00000155636	ENST00000286070	T	0.05996	3.36	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.15998	0.0385	L	0.45581	1.43	0.80722	D	1	D	0.63880	0.993	P	0.58266	0.836	T	0.05305	-1.0893	10	0.16896	T	0.51	-23.6593	19.3813	0.94536	0.0:0.0:1.0:0.0	.	117	Q8IUH3-3	.	N	117	ENSP00000286070:D117N	ENSP00000286070:D117N	D	+	1	0	RBM45	178689283	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.614000	0.98353	2.824000	0.97209	0.655000	0.94253	GAT		0.343	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		20	225	0	0	0	0.002299	0	20	225				
TTN	7273	broad.mit.edu	37	2	179416962	179416962	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:179416962A>T	ENST00000591111.1	-	285	85966	c.85742T>A	c.(85741-85743)cTt>cAt	p.L28581H	TTN_ENST00000342992.6_Missense_Mutation_p.L27654H|TTN_ENST00000460472.2_Missense_Mutation_p.L21157H|TTN_ENST00000589042.1_Missense_Mutation_p.L30222H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L21282H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L21349H|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28581					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.L21282H(1)|p.L27654H(1)|p.L21157H(1)|p.L21349H(1)|p.L27652H(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)			TGGTGGGCCAAGGGTGATGAC	0.433																																							uc010zfg.1		NA																	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.(82960-82962)CTT>CAT		titin isoform N2-A							119.0	116.0	117.0					2																	179416962		1954	4143	6097	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179416962A>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.85742T>A	2.37:g.179416962A>T	ENSP00000465570:p.Leu28581His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L21349H|TTN_uc010zfi.1_Missense_Mutation_p.L21282H|TTN_uc010zfj.1_Missense_Mutation_p.L21157H	p.L27654H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		284	83185	-			28581					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.82961T>A		.	.	.	.	.	.	.	.	.	.	A	16.33	3.094306	0.56075	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.91	5.91	0.95273	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68869	0.3048	M	0.72353	2.195	0.80722	D	1	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	0.72130	-0.4383	9	0.87932	D	0	.	16.3436	0.83110	1.0:0.0:0.0:0.0	.	21157;21282;21349;28581	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	27654;21157;21349;21282;21154	ENSP00000343764:L27654H;ENSP00000434586:L21157H;ENSP00000340554:L21349H;ENSP00000352154:L21282H	ENSP00000340554:L21349H	L	-	2	0	TTN	179125208	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	9.339000	0.96797	2.269000	0.75478	0.533000	0.62120	CTT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	190	0	0	0	0.006122	0	18	190				
TTN	7273	broad.mit.edu	37	2	179438511	179438511	+	Silent	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:179438511A>G	ENST00000591111.1	-	276	67649	c.67425T>C	c.(67423-67425)aaT>aaC	p.N22475N	TTN_ENST00000342992.6_Silent_p.N21548N|TTN_ENST00000460472.2_Silent_p.N15051N|TTN_ENST00000589042.1_Silent_p.N24116N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.N15176N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.N15243N|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22475	Ig-like 116.				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.N15051N(1)|p.N15176N(1)|p.N21546N(1)|p.N15243N(1)|p.N21548N(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)			GAACTTTGACATTGAAAATGT	0.438																																							uc010zfg.1		NA																	5	Substitution - coding silent(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.(64642-64644)AAT>AAC		titin isoform N2-A							86.0	83.0	84.0					2																	179438511		1889	4108	5997	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438511A>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.67425T>C	2.37:g.179438511A>G						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.N15243N|TTN_uc010zfi.1_Silent_p.N15176N|TTN_uc010zfj.1_Silent_p.N15051N	p.N21548N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	64868	-			22475					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.64644T>C																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	142	0	0	0	0.006214	0	9	142				
TTN	7273	broad.mit.edu	37	2	179455772	179455772	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:179455772C>A	ENST00000591111.1	-	254	55981	c.55757G>T	c.(55756-55758)aGt>aTt	p.S18586I	TTN_ENST00000342992.6_Missense_Mutation_p.S17659I|TTN_ENST00000460472.2_Missense_Mutation_p.S11162I|TTN_ENST00000589042.1_Missense_Mutation_p.S20227I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S11287I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S11354I|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18586	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.S11287I(1)|p.S17657I(1)|p.S11354I(1)|p.S11162I(1)|p.S17659I(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)			CTTTGTCTTACTGCTTCCGGA	0.453																																							uc010zfg.1		NA																	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.(52975-52977)AGT>ATT		titin isoform N2-A							171.0	167.0	168.0					2																	179455772		1894	4116	6010	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455772C>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.55757G>T	2.37:g.179455772C>A	ENSP00000465570:p.Ser18586Ile					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S11354I|TTN_uc010zfi.1_Missense_Mutation_p.S11287I|TTN_uc010zfj.1_Missense_Mutation_p.S11162I	p.S17659I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	53200	-			18586					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.52976G>T		.	.	.	.	.	.	.	.	.	.	C	7.556	0.663617	0.14710	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	6.11	5.22	0.72569	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48370	0.1496	L	0.34521	1.04	0.32060	N	0.595775	B;B;B;B	0.32653	0.379;0.379;0.379;0.379	B;B;B;B	0.35182	0.197;0.197;0.197;0.197	T	0.60801	-0.7191	9	0.87932	D	0	.	10.0109	0.41986	0.0:0.6694:0.2624:0.0681	.	11162;11287;11354;18586	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	17659;11162;11354;11287;11160	ENSP00000343764:S17659I;ENSP00000434586:S11162I;ENSP00000340554:S11354I;ENSP00000352154:S11287I	ENSP00000340554:S11354I	S	-	2	0	TTN	179164018	0.933000	0.31639	1.000000	0.80357	0.991000	0.79684	1.279000	0.33191	1.548000	0.49413	0.655000	0.94253	AGT		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	327	1	0	1.28384e-07	0.001882	1.56591e-07	21	327				
TTN	7273	broad.mit.edu	37	2	179489195	179489195	+	Missense_Mutation	SNP	C	C	A	rs367560855		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:179489195C>A	ENST00000591111.1	-	192	40113	c.39889G>T	c.(39889-39891)Gtg>Ttg	p.V13297L	TTN_ENST00000342992.6_Missense_Mutation_p.V12370L|TTN_ENST00000460472.2_Missense_Mutation_p.V5873L|TTN_ENST00000589042.1_Missense_Mutation_p.V14938L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V5998L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V6065L|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13297			V -> A. {ECO:0000269|PubMed:17344846}.		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.V12370L(2)|p.V5998L(1)|p.V6065L(1)|p.V5873L(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)			TACTTACGCACGACATTCAGG	0.363																																							uc010zfg.1		NA																	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.(37108-37110)GTG>TTG		titin isoform N2-A							123.0	122.0	122.0					2																	179489195		1873	4100	5973	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179489195C>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.39889G>T	2.37:g.179489195C>A	ENSP00000465570:p.Val13297Leu					TTN_uc010zfh.1_Missense_Mutation_p.V6065L|TTN_uc010zfi.1_Missense_Mutation_p.V5998L|TTN_uc010zfj.1_Missense_Mutation_p.V5873L	p.V12370L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		191	37332	-			13297					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.37108G>T		.	.	.	.	.	.	.	.	.	.	C	15.32	2.799632	0.50208	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.04406	3.63;3.63;3.63;3.63	5.72	3.91	0.45181	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.03263	0.0095	N	0.04724	-0.175	0.34463	D	0.701994	B;B;B;B	0.22683	0.073;0.073;0.073;0.073	B;B;B;B	0.19946	0.027;0.027;0.027;0.027	T	0.29882	-0.9997	9	0.87932	D	0	.	12.4478	0.55662	0.0:0.863:0.0:0.137	.	5873;5998;6065;13297	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	12370;5873;6065;5998;5873	ENSP00000343764:V12370L;ENSP00000434586:V5873L;ENSP00000340554:V6065L;ENSP00000352154:V5998L	ENSP00000340554:V6065L	V	-	1	0	TTN	179197440	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.820000	0.55693	0.748000	0.32831	0.557000	0.71058	GTG		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	115	1	0	7.93312e-07	0.00245	9.39931e-07	13	115				
TTN	7273	broad.mit.edu	37	2	179544998	179544998	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:179544998A>T	ENST00000591111.1	-	137	32674	c.32450T>A	c.(32449-32451)gTa>gAa	p.V10817E	TTN_ENST00000342992.6_Missense_Mutation_p.V9890E|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V11134E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				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.V9890E(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)			AGGTGGTGCTACTTCTTTTCT	0.378																																							uc010zfg.1		NA																	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.(29668-29670)GTA>GAA		titin isoform N2-A							205.0	200.0	201.0					2																	179544998		1868	4109	5977	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179544998A>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.32450T>A	2.37:g.179544998A>T	ENSP00000465570:p.Val10817Glu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6551E|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	p.V9890E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		136	29893	-			10817					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.29669T>A		.	.	.	.	.	.	.	.	.	.	A	11.57	1.676989	0.29783	.	.	ENSG00000155657	ENST00000342992	T	0.69806	-0.43	5.17	5.17	0.71159	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.36413	0.0966	N	0.01086	-1.025	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36311	-0.9753	9	0.87932	D	0	.	9.2476	0.37536	0.7986:0.0:0.0:0.2014	.	10817	Q8WZ42	TITIN_HUMAN	E	9890	ENSP00000343764:V9890E	ENSP00000343764:V9890E	V	-	2	0	TTN	179253243	0.028000	0.19301	0.997000	0.53966	0.904000	0.53231	2.050000	0.41297	2.254000	0.74563	0.460000	0.39030	GTA		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	231	0	0	0	0.00245	0	12	231				
TTN	7273	broad.mit.edu	37	2	179641550	179641551	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:179641550_179641551GG>TT	ENST00000591111.1	-	28	5264_5265	c.5040_5041CC>AA	c.(5038-5043)ctCCat>ctAAat	p.H1681N	TTN_ENST00000342992.6_Missense_Mutation_p.H1681N|TTN_ENST00000460472.2_Missense_Mutation_p.H1635N|TTN_ENST00000589042.1_Missense_Mutation_p.H1681N|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H1635N|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.H1681N|TTN_ENST00000342175.6_Missense_Mutation_p.H1635N|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12526					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.H1681N(3)|p.H1635N(3)		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)			TATCGCAAATGGAGGGGCTCCA	0.446																																							uc010zfg.1		NA																	6	Substitution - Missense(6)		lung(6)	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.(5038-5043)CTCCAT>CTAAAT		titin isoform N2-A																																				SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641550_179641551GG>TT	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.5040_5041delinsTT	2.37:g.179641550_179641551delinsTT	ENSP00000465570:p.His1681Asn					TTN_uc010zfh.1_Missense_Mutation_p.H1635N|TTN_uc010zfi.1_Missense_Mutation_p.H1635N|TTN_uc010zfj.1_Missense_Mutation_p.H1635N|TTN_uc002unb.2_Missense_Mutation_p.H1681N|uc002unc.1_5'Flank	p.H1681N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5264_5265	-			1681					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	DNP	ENST00000591111.1	37	c.5040_5041CC>AA																																																																																					0.446	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	191	0	0	0	0.004672	0	10	191				
ITGA4	3676	broad.mit.edu	37	2	182347350	182347350	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:182347350G>T	ENST00000397033.2	+	9	1443	c.1013G>T	c.(1012-1014)aGa>aTa	p.R338I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	338					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.R338I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GAGGAAGGAAGAGTGTTTGTG	0.473																																							uc002unu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(1012-1014)AGA>ATA		integrin alpha 4 precursor	Natalizumab(DB00108)						141.0	139.0	140.0					2																	182347350		1991	4168	6159	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182347350G>T		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1013G>T	2.37:g.182347350G>T	ENSP00000380227:p.Arg338Ile					ITGA4_uc010zfl.1_Missense_Mutation_p.R338I	p.R338I	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		9	1776	+			338			FG-GAP 5.|Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1013G>T	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299329	0.81136	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.11063	2.81;2.81	5.81	4.93	0.64822	.	0.045107	0.85682	D	0.000000	T	0.36799	0.0980	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.992;1.0	T	0.34750	-0.9816	10	0.87932	D	0	.	16.4308	0.83841	0.0:0.0:0.8676:0.1324	.	338;338	E7EP60;P13612	.;ITA4_HUMAN	I	338	ENSP00000380227:R338I;ENSP00000233573:R338I	ENSP00000233573:R338I	R	+	2	0	ITGA4	182055595	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.444000	0.66587	1.445000	0.47624	0.650000	0.86243	AGA		0.473	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			33	175	1	0	5.91797e-21	0.002445	9.11824e-21	33	175				
ZSWIM2	151112	broad.mit.edu	37	2	187698691	187698691	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:187698691G>A	ENST00000295131.2	-	6	849	c.810C>T	c.(808-810)caC>caT	p.H270H		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	270					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H270H(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATGTAAACGTGTGGGAAAGAT	0.358																																							uc002upu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(808-810)CAC>CAT		zinc finger, SWIM domain containing 2							131.0	113.0	119.0					2																	187698691		2203	4300	6503	SO:0001819	synonymous_variant	151112				apoptosis		zinc ion binding	g.chr2:187698691G>A	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.810C>T	2.37:g.187698691G>A							p.H270H	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		6	850	-			270			ZZ-type.		B3KXV6|Q53SI3|Q57ZY3	Silent	SNP	ENST00000295131.2	37	c.810C>T	CCDS33348.1																																																																																				0.358	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		7	52	0	0	0	0.00308	0	7	52				
TFPI	7035	broad.mit.edu	37	2	188331706	188331706	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:188331706C>A	ENST00000233156.3	-	8	1166	c.872G>T	c.(871-873)aGa>aTa	p.R291I	AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.R291I	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	291					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R291I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	TATTTTCACTCTCTGCTTCTT	0.254																																							uc002upx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(871-873)AGA>ATA		tissue factor pathway inhibitor isoform a	Coagulation factor VIIa(DB00036)						28.0	32.0	31.0					2																	188331706		2159	4215	6374	SO:0001583	missense	7035				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr2:188331706C>A		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.872G>T	2.37:g.188331706C>A	ENSP00000233156:p.Arg291Ile					TFPI_uc002upy.2_Missense_Mutation_p.R291I|TFPI_uc002upz.2_Missense_Mutation_p.R287I	p.R291I	NM_006287	NP_006278	P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)		8	905	-			291					O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	37	c.872G>T	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	C	2.999	-0.206372	0.06180	.	.	ENSG00000003436	ENST00000392365;ENST00000233156	T;T	0.55234	0.53;0.53	4.78	-1.88	0.07713	.	2.067630	0.02301	N	0.071205	T	0.27663	0.0680	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.03945	-1.0990	10	0.25106	T	0.35	.	1.0039	0.01483	0.1726:0.2739:0.2832:0.2703	.	291	P10646	TFPI1_HUMAN	I	291	ENSP00000376172:R291I;ENSP00000233156:R291I	ENSP00000233156:R291I	R	-	2	0	TFPI	188039951	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.176000	0.09811	-0.689000	0.05149	-0.823000	0.03104	AGA		0.254	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		3	16	1	0	0.004672	0.004672	0.00490423	3	16				
COL3A1	1281	broad.mit.edu	37	2	189868724	189868724	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:189868724C>T	ENST00000304636.3	+	39	2848	c.2678C>T	c.(2677-2679)cCa>cTa	p.P893L	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	893	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.P893L(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)	CCAGGACCCCCAGGTCCCAGC	0.438																																							uc002uqj.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(2677-2679)CCA>CTA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						18.0	21.0	20.0					2																	189868724		2203	4298	6501	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.chr2:189868724C>T	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.2678C>T	2.37:g.189868724C>T	ENSP00000304408:p.Pro893Leu						p.P893L	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		39	2795	+			893			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.2678C>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707621	0.68615	.	.	ENSG00000168542	ENST00000304636	D	0.98684	-5.07	5.5	5.5	0.81552	.	0.000000	0.51477	D	0.000099	D	0.98732	0.9574	M	0.84219	2.685	0.80722	D	1	P	0.50528	0.936	P	0.50490	0.642	D	0.99862	1.1084	10	0.72032	D	0.01	.	19.4069	0.94651	0.0:1.0:0.0:0.0	.	893	P02461	CO3A1_HUMAN	L	893	ENSP00000304408:P893L	ENSP00000304408:P893L	P	+	2	0	COL3A1	189576969	0.993000	0.37304	0.997000	0.53966	0.957000	0.61999	4.792000	0.62467	2.590000	0.87494	0.551000	0.68910	CCA		0.438	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		3	47	0	0	0	0.009096	0	3	47				
COL3A1	1281	broad.mit.edu	37	2	189870139	189870139	+	Missense_Mutation	SNP	G	G	T	rs587779548		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:189870139G>T	ENST00000304636.3	+	41	3165	c.2995G>T	c.(2995-2997)Ggt>Tgt	p.G999C	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	999	Triple-helical region.		G -> R (in EDS4).		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.G999C(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)	TGGACCCCAGGGTCTTCCTGG	0.458																																							uc002uqj.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13	GRCh37	CM000352	COL3A1	M		c.(2995-2997)GGT>TGT		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						94.0	97.0	96.0					2																	189870139		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.chr2:189870139G>T	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.2995G>T	2.37:g.189870139G>T	ENSP00000304408:p.Gly999Cys						p.G999C	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		41	3112	+			999		G -> R (in EDS4).	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.2995G>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056828	0.93793	.	.	ENSG00000168542	ENST00000304636	D	0.99637	-6.29	5.5	5.5	0.81552	.	0.000000	0.52532	D	0.000068	D	0.99859	0.9934	H	0.99573	4.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96364	0.9268	10	0.87932	D	0	.	19.4039	0.94641	0.0:0.0:1.0:0.0	.	999	P02461	CO3A1_HUMAN	C	999	ENSP00000304408:G999C	ENSP00000304408:G999C	G	+	1	0	COL3A1	189578384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.586000	0.87340	0.650000	0.86243	GGT		0.458	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		20	163	1	0	1.50039e-11	0.001882	2.01738e-11	20	163				
MFSD6	54842	broad.mit.edu	37	2	191353516	191353516	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:191353516G>A	ENST00000392328.1	+	5	2088	c.1764G>A	c.(1762-1764)atG>atA	p.M588I	MFSD6_ENST00000281416.7_Missense_Mutation_p.M588I|MFSD6_ENST00000535751.1_Missense_Mutation_p.M50I	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	588					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.M588I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GTGGTGCCATGATCGGAGGCG	0.443																																							uc002urz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1762-1764)ATG>ATA		major facilitator superfamily domain containing							164.0	157.0	159.0					2																	191353516		2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191353516G>A		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1764G>A	2.37:g.191353516G>A	ENSP00000376141:p.Met588Ile					MFSD6_uc010zge.1_Missense_Mutation_p.M50I	p.M588I	NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN			5	2088	+			588			Helical; (Potential).		D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.1764G>A	CCDS2306.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.80|15.80	2.940885|2.940885	0.52972|0.52972	.|.	.|.	ENSG00000151690|ENSG00000151690	ENST00000434582|ENST00000392328;ENST00000281416;ENST00000444317;ENST00000542423;ENST00000535751	.|T;T;T;T	.|0.54866	.|0.55;0.55;0.55;0.55	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Major facilitator superfamily domain, general substrate transporter (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.41026|0.41026	0.1141|0.1141	N|N	0.20401|0.20401	0.57|0.57	0.80722|0.80722	D|D	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.20955	.|0.032	T|T	0.17379|0.17379	-1.0371|-1.0371	5|10	.|0.23302	.|T	.|0.38	-19.1709|-19.1709	18.1818|18.1818	0.89780|0.89780	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|588	.|Q6ZSS7	.|MFSD6_HUMAN	N|I	124|588;588;50;50;50	.|ENSP00000376141:M588I;ENSP00000281416:M588I;ENSP00000406837:M50I;ENSP00000440917:M50I	.|ENSP00000281416:M588I	D|M	+|+	1|3	0|0	MFSD6|MFSD6	191061761|191061761	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	9.800000|9.800000	0.99124|0.99124	2.534000|2.534000	0.85438|0.85438	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.443	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			73	93	0	0	0	0.00361	0	73	93				
DNAH7	56171	broad.mit.edu	37	2	196821991	196821991	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:196821991G>A	ENST00000312428.6	-	19	3172	c.3072C>T	c.(3070-3072)gtC>gtT	p.V1024V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1024	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.V1024V(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTACCTGCATGACACTTCTCA	0.368																																							uc002utj.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(2)	12						c.(3070-3072)GTC>GTT		dynein, axonemal, heavy chain 7							115.0	103.0	106.0					2																	196821991		1869	4121	5990	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196821991G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3072C>T	2.37:g.196821991G>A							p.V1024V	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			19	3173	-			1024			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.3072C>T	CCDS42794.1																																																																																				0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		11	133	0	0	0	0.000978	0	11	133				
SATB2	23314	broad.mit.edu	37	2	200245120	200245120	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:200245120C>A	ENST00000417098.1	-	5	1380	c.564G>T	c.(562-564)caG>caT	p.Q188H	SATB2_ENST00000457245.1_Missense_Mutation_p.Q188H|SATB2_ENST00000443023.1_Missense_Mutation_p.Q129H|SATB2_ENST00000260926.5_Missense_Mutation_p.Q188H|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000484124.1_5'UTR	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	188					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.Q188H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTAATGTGCTCTGGTTCATCT	0.498																																					Colon(30;262 767 11040 24421 36230)	Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(562-564)CAG>CAT		SATB homeobox 2							167.0	142.0	151.0					2																	200245120		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200245120C>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.564G>T	2.37:g.200245120C>A	ENSP00000401112:p.Gln188His					SATB2_uc010fsq.1_Intron|SATB2_uc002uuz.1_Missense_Mutation_p.Q188H|SATB2_uc002uva.1_Missense_Mutation_p.Q188H	p.Q188H	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			5	1381	-			188					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.564G>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646604	0.87958	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000457245	D;D;D;D	0.99557	-6.16;-6.16;-6.16;-6.16	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	L	0.53249	1.67	0.52501	D	0.999955	D	0.65815	0.995	D	0.68765	0.96	D	0.99274	1.0894	10	0.72032	D	0.01	-19.4286	19.7691	0.96356	0.0:1.0:0.0:0.0	.	188	Q9UPW6	SATB2_HUMAN	H	188;129;188;188	ENSP00000401112:Q188H;ENSP00000388764:Q129H;ENSP00000260926:Q188H;ENSP00000405420:Q188H	ENSP00000260926:Q188H	Q	-	3	2	SATB2	199953365	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.820000	0.55693	2.689000	0.91719	0.462000	0.41574	CAG		0.498	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		22	186	1	0	4.4004e-07	0.00333	5.26581e-07	22	186				
NBEAL1	65065	broad.mit.edu	37	2	204001388	204001388	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:204001388G>A	ENST00000449802.1	+	28	4702	c.4369G>A	c.(4369-4371)Gaa>Aaa	p.E1457K		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1457								p.E1457K(1)|p.E167K(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TAAGGGACTAGAAAAGTCTGA	0.338																																							uc002uzt.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(4369-4371)GAA>AAA		neurobeachin-like 1 isoform 3							106.0	101.0	102.0					2																	204001388		1861	4095	5956	SO:0001583	missense	65065						binding	g.chr2:204001388G>A	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4369G>A	2.37:g.204001388G>A	ENSP00000399903:p.Glu1457Lys					NBEAL1_uc002uzs.3_Missense_Mutation_p.E167K	p.E1457K	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN			28	4702	+			1457					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.4369G>A	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075959	0.76415	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.59772	0.24	5.9	5.9	0.94986	.	0.437153	0.25866	N	0.027798	T	0.58609	0.2134	L	0.61387	1.9	0.80722	D	1	P;P	0.46395	0.877;0.877	B;B	0.40741	0.339;0.339	T	0.57260	-0.7842	10	0.29301	T	0.29	.	19.8738	0.96861	0.0:0.0:1.0:0.0	.	1457;1446	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	K	1457	ENSP00000399903:E1457K	ENSP00000344985:E1457K	E	+	1	0	NBEAL1	203709633	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	9.476000	0.97823	2.798000	0.96311	0.650000	0.86243	GAA		0.338	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			7	122	0	0	0	0.00308	0	7	122				
CYP20A1	57404	broad.mit.edu	37	2	204116833	204116833	+	Splice_Site	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:204116833G>C	ENST00000356079.4	+	4	555		c.e4+1		CYP20A1_ENST00000461371.1_Splice_Site|CYP20A1_ENST00000429815.2_Splice_Site	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1							integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.?(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						CCTCCTAAAGGTAAGGTGATA	0.353																																							uc002uzv.3		NA																	1	Unknown(1)		lung(1)		0						c.e4+1		cytochrome P450, family 20, subfamily A,							107.0	93.0	98.0					2																	204116833		2203	4300	6503	SO:0001630	splice_region_variant	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204116833G>C	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.432+1G>C	2.37:g.204116833G>C						CYP20A1_uc002uzx.3_Splice_Site_p.K42_splice|CYP20A1_uc010zif.1_Splice_Site_p.K144_splice|CYP20A1_uc002uzy.3_Splice_Site_p.K42_splice|CYP20A1_uc002uzw.3_Splice_Site	p.K144_splice	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN			4	1054	+								Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Splice_Site	SNP	ENST00000356079.4	37	c.432_splice	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039684	0.55003	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815;ENST00000443941	.	.	.	5.52	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7068	0.77588	0.0:0.0:0.8626:0.1373	.	.	.	.	.	-1	.	.	.	+	.	.	CYP20A1	203825078	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	8.610000	0.90902	2.605000	0.88082	0.655000	0.94253	.		0.353	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674	Intron	7	100	0	0	0	0.00308	0	7	100				
ABI2	10152	broad.mit.edu	37	2	204193298	204193298	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:204193298G>C	ENST00000422511.2	+	1	92	c.61G>C	c.(61-63)Gac>Cac	p.D21H	ABI2_ENST00000295851.5_Missense_Mutation_p.D21H|ABI2_ENST00000430418.1_Missense_Mutation_p.D21H|RP11-363J17.1_ENST00000469747.2_RNA|ABI2_ENST00000261017.5_Missense_Mutation_p.D21H|ABI2_ENST00000261016.6_5'UTR|ABI2_ENST00000424558.1_Missense_Mutation_p.D21H			Q9NYB9	ABI2_HUMAN	abl-interactor 2	21					actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)	p.D21H(1)		breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						GGCCCTCTTCGACAGCTACAC	0.632																																							uc002vaa.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(61-63)GAC>CAC		abl interactor 2							33.0	40.0	38.0					2																	204193298		2203	4300	6503	SO:0001583	missense	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204193298G>C	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.61G>C	2.37:g.204193298G>C	ENSP00000396249:p.Asp21His					ABI2_uc010zig.1_RNA|ABI2_uc002uzz.2_Missense_Mutation_p.D21H|ABI2_uc010zih.1_5'UTR|ABI2_uc010zii.1_Missense_Mutation_p.D21H|ABI2_uc010zij.1_5'UTR	p.D21H	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN			1	296	+			21					B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	ENST00000422511.2	37	c.61G>C		.	.	.	.	.	.	.	.	.	.	G	26.6	4.749685	0.89753	.	.	ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000417864;ENST00000422511	T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	3.77	3.77	0.43336	.	0.272209	0.35708	N	0.003027	D	0.86535	0.5956	M	0.81497	2.545	0.80722	D	1	D;D;P	0.69078	0.997;0.988;0.491	P;P;P	0.60609	0.877;0.671;0.547	D	0.89429	0.3715	10	0.87932	D	0	-2.5532	15.7751	0.78207	0.0:0.0:1.0:0.0	.	21;21;21	Q9NYB9-4;Q9NYB9;Q9NYB9-2	.;ABI2_HUMAN;.	H	21	ENSP00000295851:D21H;ENSP00000261017:D21H;ENSP00000408898:D21H;ENSP00000391433:D21H;ENSP00000414703:D21H;ENSP00000396249:D21H	ENSP00000261017:D21H	D	+	1	0	ABI2	203901543	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.341000	0.90046	1.923000	0.55706	0.305000	0.20034	GAC		0.632	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		3	42	0	0	0	0.004672	0	3	42				
PLEKHM3	389072	broad.mit.edu	37	2	208795744	208795744	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:208795744G>A	ENST00000427836.2	-	5	2281	c.1792C>T	c.(1792-1794)Ctg>Ttg	p.L598L	PLEKHM3_ENST00000389247.4_Silent_p.L598L|PLEKHM3_ENST00000457206.1_Silent_p.L598L	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	598					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.L598L(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACGGCGGCCAGCGGCTCTGCG	0.637																																							uc002vcl.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1792-1794)CTG>TTG		pleckstrin homology domain containing, family M,							57.0	65.0	62.0					2																	208795744		2010	4171	6181	SO:0001819	synonymous_variant	389072				intracellular signal transduction		metal ion binding	g.chr2:208795744G>A	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1792C>T	2.37:g.208795744G>A						PLEKHM3_uc002vcm.2_Silent_p.L598L	p.L598L	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN			5	2282	-			598					B9EKV2|Q8WW68	Silent	SNP	ENST00000427836.2	37	c.1792C>T	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	G	1.449	-0.565553	0.03939	.	.	ENSG00000178385	ENST00000447645	.	.	.	5.79	3.98	0.46160	.	.	.	.	.	T	0.60301	0.2258	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57980	-0.7717	4	.	.	.	-13.5303	10.0206	0.42041	0.2088:0.0:0.7912:0.0	.	.	.	.	V	349	.	.	A	-	2	0	PLEKHM3	208503989	1.000000	0.71417	0.833000	0.33012	0.008000	0.06430	4.151000	0.58105	1.454000	0.47793	0.460000	0.39030	GCT		0.637	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		37	76	0	0	0	0.00361	0	37	76				
PTH2R	5746	broad.mit.edu	37	2	209271772	209271772	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:209271772G>C	ENST00000272847.2	+	1	217	c.4G>C	c.(4-6)Gcc>Ccc	p.A2P	PTH2R_ENST00000413482.1_Intron	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	2					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.A2P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TCCGGGCATGGCCGGGCTGGG	0.647																																							uc002vdb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(4-6)GCC>CCC		parathyroid hormone 2 receptor precursor							59.0	73.0	68.0					2																	209271772		2201	4299	6500	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209271772G>C	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.4G>C	2.37:g.209271772G>C	ENSP00000272847:p.Ala2Pro					PTH2R_uc010zjb.1_Intron	p.A2P	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	1	217	+			2					Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.4G>C	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	8.988	0.977098	0.18812	.	.	ENSG00000144407	ENST00000272847	T	0.55930	0.49	4.05	1.18	0.20946	.	.	.	.	.	T	0.30572	0.0769	N	0.16478	0.41	0.20196	N	0.999927	B	0.06786	0.001	B	0.06405	0.002	T	0.16778	-1.0391	9	0.30854	T	0.27	.	4.0688	0.09872	0.2237:0.1952:0.5811:0.0	.	2	P49190	PTH2R_HUMAN	P	2	ENSP00000272847:A2P	ENSP00000272847:A2P	A	+	1	0	PTH2R	208980017	0.927000	0.31430	0.143000	0.22291	0.077000	0.17291	1.000000	0.29770	0.039000	0.15632	0.561000	0.74099	GCC		0.647	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		82	205	0	0	0	0.00361	0	82	205				
PTH2R	5746	broad.mit.edu	37	2	209345847	209345847	+	Missense_Mutation	SNP	G	G	T	rs151296979		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:209345847G>T	ENST00000272847.2	+	10	1247	c.1034G>T	c.(1033-1035)tGg>tTg	p.W345L	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	345					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.W345L(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	ACCAAAATCTGGGAGACCAAT	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		17253	0.0		0.001	False		,,,				2504	0.0						uc002vdb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|skin(1)	3						c.(1033-1035)TGG>TTG		parathyroid hormone 2 receptor precursor		G	LEU/TRP	0,4406		0,0,2203	101.0	99.0	99.0		1034	4.7	1.0	2	dbSNP_134	99	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PTH2R	NM_005048.2	61	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	probably-damaging	345/551	209345847	2,13004	2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209345847G>T	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1034G>T	2.37:g.209345847G>T	ENSP00000272847:p.Trp345Leu					PTH2R_uc010zjb.1_Missense_Mutation_p.W356L	p.W345L	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	10	1247	+			345			Cytoplasmic (Potential).		Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.1034G>T	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987720	0.74589	0.0	2.33E-4	ENSG00000144407	ENST00000272847	T	0.31769	1.48	5.54	4.66	0.58398	GPCR, family 2-like (1);	0.000000	0.47093	D	0.000255	T	0.43942	0.1270	L	0.45228	1.405	0.40834	D	0.983611	D;D	0.63880	0.993;0.993	D;D	0.66497	0.944;0.944	T	0.30504	-0.9976	9	.	.	.	.	12.6927	0.56985	0.081:0.0:0.919:0.0	.	234;345	B4DFN8;P49190	.;PTH2R_HUMAN	L	345	ENSP00000272847:W345L	.	W	+	2	0	PTH2R	209054092	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.302000	0.96175	1.477000	0.48234	0.650000	0.86243	TGG		0.358	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		17	85	1	0	1.9806e-07	0.002299	2.40757e-07	17	85				
CPS1	1373	broad.mit.edu	37	2	211476856	211476856	+	Missense_Mutation	SNP	C	C	A	rs201716417		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:211476856C>A	ENST00000233072.5	+	20	2603	c.2407C>A	c.(2407-2409)Cgt>Agt	p.R803S	CPS1_ENST00000451903.2_Missense_Mutation_p.R352S|CPS1_ENST00000430249.2_Missense_Mutation_p.R809S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	803			R -> C (in CPS1D). {ECO:0000269|PubMed:21120950}.|R -> G (in CPS1D). {ECO:0000269|PubMed:21120950}.|R -> S (in CPS1D). {ECO:0000269|PubMed:21120950}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.R803S(1)|p.R809S(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GGCTATTGGTCGTACCTTTGA	0.383																																							uc002vee.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2407-2409)CGT>AGT		carbamoyl-phosphate synthetase 1 isoform b							136.0	136.0	136.0					2																	211476856		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211476856C>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2407C>A	2.37:g.211476856C>A	ENSP00000233072:p.Arg803Ser					CPS1_uc010fur.2_Missense_Mutation_p.R809S|CPS1_uc010fus.2_Missense_Mutation_p.R352S	p.R803S	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	20	2539	+			803					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2407C>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979841	0.74360	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.95656	-3.77;-3.77;-3.77	5.2	4.3	0.51218	ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);	0.000000	0.85682	D	0.000000	D	0.97816	0.9283	M	0.86651	2.83	0.49299	D	0.999778	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98597	1.0657	10	0.87932	D	0	-13.0858	15.149	0.72681	0.1424:0.8576:0.0:0.0	.	813;803	Q59HF8;P31327	.;CPSM_HUMAN	S	809;811;803;352	ENSP00000402608:R809S;ENSP00000233072:R803S;ENSP00000406136:R352S	ENSP00000233072:R803S	R	+	1	0	CPS1	211185101	0.998000	0.40836	0.998000	0.56505	0.972000	0.66771	3.588000	0.53964	1.247000	0.43917	0.557000	0.71058	CGT		0.383	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			33	229	1	0	8.73648e-17	0.004289	1.28717e-16	33	229				
CPS1	1373	broad.mit.edu	37	2	211518747	211518747	+	Splice_Site	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:211518747A>T	ENST00000233072.5	+	29	3676		c.e29-1		CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000430249.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.?(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CCTTCGTGACAGGAGCACCCA	0.423																																							uc002vee.3		NA																	2	Unknown(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.e29-2		carbamoyl-phosphate synthetase 1 isoform b							102.0	102.0	102.0					2																	211518747		2203	4300	6503	SO:0001630	splice_region_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211518747A>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3481-1A>T	2.37:g.211518747A>T						CPS1_uc010fur.2_Splice_Site_p.E1167_splice|CPS1_uc010fus.2_Splice_Site_p.E710_splice	p.E1161_splice	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	29	3613	+								B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	SNP	ENST00000233072.5	37	c.3481_splice	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250986	0.80135	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3818	0.83467	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPS1	211226992	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	8.119000	0.89579	2.330000	0.79161	0.528000	0.53228	.		0.423	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Intron	7	68	0	0	0	0.004482	0	7	68				
TNS1	7145	broad.mit.edu	37	2	218713154	218713154	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:218713154G>A	ENST00000171887.4	-	17	2163	c.1711C>T	c.(1711-1713)Cat>Tat	p.H571Y	TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000430930.1_Missense_Mutation_p.H571Y|TNS1_ENST00000419504.1_Missense_Mutation_p.H571Y	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	571					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.H696Y(1)|p.H571Y(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGGCCAGCATGGGCAGGCCCC	0.667																																							uc002vgt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)	4						c.(1711-1713)CAT>TAT		tensin							31.0	36.0	34.0					2																	218713154		2203	4299	6502	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218713154G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1711C>T	2.37:g.218713154G>A	ENSP00000171887:p.His571Tyr					TNS1_uc002vgr.2_Missense_Mutation_p.H571Y|TNS1_uc002vgs.2_Missense_Mutation_p.H571Y|TNS1_uc010zjv.1_Missense_Mutation_p.H571Y|TNS1_uc010fvj.1_Missense_Mutation_p.H639Y|TNS1_uc010fvk.1_Missense_Mutation_p.H696Y|TNS1_uc010fvi.1_Missense_Mutation_p.H258Y	p.H571Y	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2109	-		Renal(207;0.0483)|Lung NSC(271;0.213)	571					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.1711C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	3.503	-0.101443	0.06967	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.93859	-2.81;-2.81;-2.82;-3.3	4.79	3.89	0.44902	.	0.511449	0.19126	N	0.122052	D	0.89708	0.6793	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B	0.27068	0.105;0.01;0.167;0.11;0.052	B;B;B;B;B	0.27170	0.04;0.034;0.077;0.077;0.057	D	0.86747	0.1958	10	0.45353	T	0.12	.	14.9585	0.71138	0.0:0.1435:0.8565:0.0	.	571;625;571;571;571	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	Y	571;571;571;696	ENSP00000171887:H571Y;ENSP00000408724:H571Y;ENSP00000406016:H571Y;ENSP00000405460:H696Y	ENSP00000171887:H571Y	H	-	1	0	TNS1	218421399	0.026000	0.19158	0.030000	0.17652	0.217000	0.24651	1.390000	0.34464	1.193000	0.43086	0.561000	0.74099	CAT		0.667	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		23	40	0	0	0	0.005524	0	23	40				
RHBDD1	84236	broad.mit.edu	37	2	227779021	227779021	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:227779021A>T	ENST00000341329.3	+	6	1052	c.810A>T	c.(808-810)gaA>gaT	p.E270D	RHBDD1_ENST00000392062.2_Missense_Mutation_p.E270D|RHBDD1_ENST00000493526.1_3'UTR|RHBDD1_ENST00000409053.1_Missense_Mutation_p.E104D	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	270	Ubiquitin-binding domain (UBD). {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.E270D(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		GACTGAGTGAAGAAGAACAGC	0.488																																							uc002voi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(808-810)GAA>GAT		rhomboid domain containing 1							105.0	104.0	104.0					2																	227779021		2203	4300	6503	SO:0001583	missense	84236					integral to membrane	serine-type endopeptidase activity	g.chr2:227779021A>T	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.810A>T	2.37:g.227779021A>T	ENSP00000344779:p.Glu270Asp					RHBDD1_uc010fxc.2_Missense_Mutation_p.E270D|RHBDD1_uc002voj.2_Missense_Mutation_p.E101D	p.E270D	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)	6	931	+		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	270					Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Missense_Mutation	SNP	ENST00000341329.3	37	c.810A>T	CCDS2464.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.575214	0.86542	.	.	ENSG00000144468	ENST00000341329;ENST00000392062;ENST00000409053	T;T	0.51574	0.7;0.7	6.06	-5.29	0.02747	.	0.000000	0.85682	D	0.000000	T	0.63153	0.2487	M	0.78801	2.425	0.43183	D	0.995009	D;D	0.89917	1.0;0.985	D;P	0.85130	0.997;0.685	T	0.67209	-0.5728	10	0.51188	T	0.08	-22.6509	14.984	0.71332	0.331:0.0:0.669:0.0	.	61;270	Q8TEB9-2;Q8TEB9	.;RHBD1_HUMAN	D	270;270;104	ENSP00000344779:E270D;ENSP00000375914:E270D	ENSP00000344779:E270D	E	+	3	2	RHBDD1	227487265	0.970000	0.33590	0.881000	0.34555	0.976000	0.68499	-0.018000	0.12568	-1.209000	0.02631	-0.297000	0.09499	GAA		0.488	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			18	21	0	0	0	0.007413	0	18	21				
ALPPL2	251	broad.mit.edu	37	2	233272591	233272591	+	Missense_Mutation	SNP	A	A	C	rs533246706		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:233272591A>C	ENST00000295453.3	+	5	564	c.512A>C	c.(511-513)cAg>cCg	p.Q171P		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	171					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)	p.Q171P(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)	ACACGGGTGCAGCATGCCTCG	0.652																																							uc002vss.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(511-513)CAG>CCG		placental-like alkaline phosphatase	Amifostine(DB01143)|Levamisole(DB00848)						60.0	63.0	62.0					2																	233272591		2203	4300	6503	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233272591A>C	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.512A>C	2.37:g.233272591A>C	ENSP00000295453:p.Gln171Pro						p.Q171P	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	565	+		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)	171					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.512A>C	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	a	12.47	1.948966	0.34377	.	.	ENSG00000163286	ENST00000295453	D	0.95949	-3.86	2.71	2.71	0.32032	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97284	0.9112	M	0.85542	2.76	0.53688	D	0.999979	D	0.71674	0.998	D	0.75484	0.986	D	0.96823	0.9605	10	0.52906	T	0.07	.	11.0369	0.47806	1.0:0.0:0.0:0.0	.	171	P10696	PPBN_HUMAN	P	171	ENSP00000295453:Q171P	ENSP00000295453:Q171P	Q	+	2	0	ALPPL2	232980835	1.000000	0.71417	0.510000	0.27712	0.050000	0.14768	6.712000	0.74681	1.228000	0.43614	0.172000	0.16884	CAG		0.652	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		7	51	0	0	0	0.001984	0	7	51				
UGT1A4	54657	broad.mit.edu	37	2	234627526	234627526	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:234627526C>T	ENST00000373409.3	+	1	103	c.60C>T	c.(58-60)ctC>ctT	p.L20L	UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	20					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|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.L20L(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	TGCTCCTCCTCAGTGTCCAGC	0.657											OREG0003834	type=REGULATORY REGION|Gene=UGT1A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									Melanoma(99;1011 1962 13201 26492)	Melanoma(99;1011 1962 13201 26492)	uc002vux.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(58-60)CTC>CTT		UDP glycosyltransferase 1 family, polypeptide A4	Imipramine(DB00458)|Lamotrigine(DB00555)|Paricalcitol(DB00910)|Trifluoperazine(DB00831)						50.0	50.0	50.0					2																	234627526		2203	4300	6503	SO:0001819	synonymous_variant	54657				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr2:234627526C>T	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.60C>T	2.37:g.234627526C>T			OREG0003834	type=REGULATORY REGION|Gene=UGT1A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2375	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Silent_p.L20L	p.L20L	NM_007120	NP_009051	P22310	UD14_HUMAN		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	89	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)	20					B2R937|B8K288|Q5DT00	Silent	SNP	ENST00000373409.3	37	c.60C>T	CCDS33405.1																																																																																				0.657	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		8	39	0	0	0	0.008291	0	8	39				
PASK	23178	broad.mit.edu	37	2	242066278	242066278	+	Silent	SNP	C	C	A	rs375495425		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:242066278C>A	ENST00000405260.1	-	10	2750	c.2052G>T	c.(2050-2052)ccG>ccT	p.P684P	PASK_ENST00000358649.4_Silent_p.P684P|PASK_ENST00000403638.3_Silent_p.P684P|PASK_ENST00000234040.4_Silent_p.P684P|PASK_ENST00000544142.1_Silent_p.P498P|PASK_ENST00000539818.1_Silent_p.P468P	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	684			P -> R (in dbSNP:rs56372985). {ECO:0000269|PubMed:17344846}.		negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGCACTCTGTCGGAACGAGTT	0.617																																							uc002wao.1		NA																	0				ovary(4)|lung(1)|skin(1)	6						c.(2050-2052)CCG>CCT		PAS domain containing serine/threonine kinase							94.0	102.0	99.0					2																	242066278		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242066278C>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2052G>T	2.37:g.242066278C>A						PASK_uc010zol.1_Silent_p.P498P|PASK_uc010zom.1_Silent_p.P649P|PASK_uc010fzl.1_Silent_p.P684P|PASK_uc010zon.1_Silent_p.P465P|PASK_uc002wap.2_Silent_p.P227P|PASK_uc002waq.2_Silent_p.P684P	p.P684P	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	2144	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	684					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.2052G>T	CCDS2545.1																																																																																				0.617	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		30	261	1	0	1.42033e-22	0.004289	2.22988e-22	30	261				
ATG4B	23192	broad.mit.edu	37	2	242607954	242607955	+	Splice_Site	DNP	GG	GG	CT			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:242607954_242607955GG>CT	ENST00000404914.3	+	10	914_915	c.811_812GG>CT	c.(811-813)GGt>CTt	p.G271L	ATG4B_ENST00000474739.2_Splice_Site_p.G257L|ATG4B_ENST00000402096.1_Splice_Site_p.G197L|ATG4B_ENST00000396411.3_Splice_Site_p.G197L|ATG4B_ENST00000405546.3_Splice_Site_p.G271L	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	271					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)	p.?(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		CATCCTCCCAGGTGAGGAGCTC	0.649																																					Melanoma(78;458 1323 6342 12171 39523)	Melanoma(78;458 1323 6342 12171 39523)	uc002wbv.2		NA																	1	Unknown(1)		lung(1)		0						c.e10-1		APG4 autophagy 4 homolog B isoform a																																				SO:0001630	splice_region_variant	23192				autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	g.chr2:242607954_242607955GG>CT	AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"""APG4 autophagy 4 homolog B (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog B (S. cerevisiae)"""	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	Exception_encountered	2.37:g.242607954_242607955delinsCT						ATG4B_uc002wbu.2_Splice_Site_p.G197_splice|ATG4B_uc002wbw.2_Splice_Site_p.G271_splice|ATG4B_uc010zox.1_Splice_Site_p.G257_splice|ATG4B_uc010zoy.1_Splice_Site_p.G197_splice|ATG4B_uc010fzp.2_Splice_Site_p.G271_splice|ATG4B_uc010zoz.1_Splice_Site_p.G197_splice|ATG4B_uc002wby.2_Missense_Mutation_p.G24L	p.G271_splice	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)	10	915	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)						B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Splice_Site	DNP	ENST00000404914.3	37	c.812_splice	CCDS46564.1																																																																																				0.649	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322967.3	NM_013325	Missense_Mutation	9	7	0	0	0	0.004672	0	9	7				
SIRPG	55423	broad.mit.edu	37	20	1616967	1616967	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:1616967G>T	ENST00000303415.3	-	3	679	c.615C>A	c.(613-615)taC>taA	p.Y205*	SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381580.1_Nonsense_Mutation_p.Y172*|RP11-77C3.3_ENST00000437384.1_RNA|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381583.2_Nonsense_Mutation_p.Y205*|SIRPG_ENST00000216927.4_Nonsense_Mutation_p.Y205*	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	205	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Y205*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TGCGGATGCTGTAGGCCACAC	0.582																																							uc002wfm.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(613-615)TAC>TAA		signal-regulatory protein gamma isoform 1							167.0	147.0	154.0					20																	1616967		2203	4300	6503	SO:0001587	stop_gained	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1616967G>T	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.615C>A	20.37:g.1616967G>T	ENSP00000305529:p.Tyr205*					SIRPG_uc002wfn.1_Nonsense_Mutation_p.Y205*|SIRPG_uc002wfo.1_Intron|uc002wfp.1_Intron	p.Y205*	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			3	680	-			205			Extracellular (Potential).|Ig-like C1-type 1.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Nonsense_Mutation	SNP	ENST00000303415.3	37	c.615C>A	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	16.61	3.172453	0.57584	.	.	ENSG00000089012	ENST00000381580;ENST00000303415;ENST00000381583;ENST00000216927	.	.	.	1.95	1.95	0.26073	.	0.000000	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3086	0.26461	0.0:0.0:1.0:0.0	.	.	.	.	X	172;205;205;205	.	ENSP00000216927:Y205X	Y	-	3	2	SIRPG	1564967	1.000000	0.71417	0.200000	0.23457	0.098000	0.18820	3.851000	0.55926	1.070000	0.40811	0.195000	0.17529	TAC		0.582	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		28	57	1	0	3.03874e-20	0.003271	4.62903e-20	28	57				
TMC2	117532	broad.mit.edu	37	20	2592925	2592925	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:2592925G>T	ENST00000358864.1	+	13	1697	c.1682G>T	c.(1681-1683)cGa>cTa	p.R561L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	561					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.R561L(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGTGTCCCCCGACCACCCCTG	0.493																																							uc002wgf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1681-1683)CGA>CTA		transmembrane cochlear-expressed protein 2							105.0	99.0	101.0					20																	2592925		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2592925G>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1682G>T	20.37:g.2592925G>T	ENSP00000351732:p.Arg561Leu					TMC2_uc002wgg.1_Missense_Mutation_p.R545L|TMC2_uc010zpw.1_Missense_Mutation_p.R393L|TMC2_uc010zpx.1_Missense_Mutation_p.R392L	p.R561L	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			13	1697	+			561			Cytoplasmic (Potential).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.1682G>T	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019157	0.35606	.	.	ENSG00000149488	ENST00000358864	T	0.64260	-0.09	5.85	4.84	0.62591	.	0.158948	0.56097	D	0.000030	T	0.32346	0.0826	N	0.02011	-0.69	0.36181	D	0.849447	B;B;B;B	0.17268	0.001;0.001;0.021;0.013	B;B;B;B	0.25614	0.002;0.001;0.062;0.016	T	0.38672	-0.9650	10	0.15066	T	0.55	-19.4059	9.3987	0.38420	0.0:0.1542:0.6861:0.1597	.	392;393;561;561	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	L	561	ENSP00000351732:R561L	ENSP00000351732:R561L	R	+	2	0	TMC2	2540925	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.775000	0.55349	2.941000	0.99782	0.655000	0.94253	CGA		0.493	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			22	150	1	0	1.50039e-11	0.001882	2.01738e-11	22	150				
CHGB	1114	broad.mit.edu	37	20	5903186	5903186	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:5903186G>A	ENST00000378961.4	+	4	600	c.396G>A	c.(394-396)gaG>gaA	p.E132E		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	132						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.E132E(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ACAGCCGAGAGCGAGCGGATG	0.612																																							uc002wmg.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(394-396)GAG>GAA		chromogranin B precursor							28.0	30.0	29.0					20																	5903186		2203	4300	6503	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5903186G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.396G>A	20.37:g.5903186G>A						CHGB_uc010zqz.1_Intron	p.E132E	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	702	+			132					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.396G>A	CCDS13092.1																																																																																				0.612	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		4	4	0	0	0	0.004482	0	4	4				
PLCB1	23236	broad.mit.edu	37	20	8630054	8630054	+	Silent	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:8630054A>T	ENST00000338037.6	+	7	579	c.552A>T	c.(550-552)cgA>cgT	p.R184R	PLCB1_ENST00000378641.3_Silent_p.R184R|PLCB1_ENST00000378637.2_Silent_p.R184R	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	184					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.R184R(4)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATCGGAAGCGAGTTGAAACTG	0.423																																							uc002wnb.2		NA																	4	Substitution - coding silent(4)		lung(2)|endometrium(2)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(550-552)CGA>CGT		phosphoinositide-specific phospholipase C beta 1							184.0	165.0	171.0					20																	8630054		2203	4300	6503	SO:0001819	synonymous_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8630054A>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.552A>T	20.37:g.8630054A>T						PLCB1_uc010zrb.1_Silent_p.R83R|PLCB1_uc010gbv.1_Silent_p.R184R|PLCB1_uc002wmz.1_Silent_p.R184R|PLCB1_uc002wna.2_Silent_p.R184R|PLCB1_uc002wnc.1_Silent_p.R83R	p.R184R	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			7	555	+			184					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	c.552A>T	CCDS13102.1																																																																																				0.423	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			6	68	0	0	0	0.00308	0	6	68				
PAK7	57144	broad.mit.edu	37	20	9546647	9546647	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:9546647A>T	ENST00000378429.3	-	6	1921	c.1375T>A	c.(1375-1377)Tca>Aca	p.S459T	PAK7_ENST00000353224.5_Missense_Mutation_p.S459T|PAK7_ENST00000378423.1_Missense_Mutation_p.S459T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	459	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S459T(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATGCCGGTTGAGCCTTCCCCG	0.542																																							uc002wnl.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(1375-1377)TCA>ACA		p21-activated kinase 7							227.0	211.0	216.0					20																	9546647		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546647A>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1375T>A	20.37:g.9546647A>T	ENSP00000367686:p.Ser459Thr					PAK7_uc002wnk.2_Missense_Mutation_p.S459T|PAK7_uc002wnj.2_Missense_Mutation_p.S459T|PAK7_uc010gby.1_Missense_Mutation_p.S459T	p.S459T	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1920	-			459			Protein kinase.|ATP (By similarity).		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1375T>A	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	A	31	5.099101	0.94197	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.66460	-0.21;-0.21;-0.21	5.66	5.66	0.87406	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	0.74876	0.3774	L	0.39633	1.23	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.72338	0.977;0.977	T	0.73433	-0.3984	9	.	.	.	.	15.9044	0.79412	1.0:0.0:0.0:0.0	.	459;459	B0AZM9;Q9P286	.;PAK7_HUMAN	T	459;459;459;407	ENSP00000367686:S459T;ENSP00000322957:S459T;ENSP00000367679:S459T	.	S	-	1	0	PAK7	9494647	1.000000	0.71417	0.976000	0.42696	0.959000	0.62525	9.339000	0.96797	2.144000	0.66660	0.477000	0.44152	TCA		0.542	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			94	198	0	0	0	0.00361	0	94	198				
CSRP2BP	57325	broad.mit.edu	37	20	18123564	18123564	+	Splice_Site	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:18123564G>T	ENST00000435364.3	+	1	600		c.e1+1		CSRP2BP_ENST00000377681.3_Splice_Site|PET117_ENST00000432901.3_3'UTR|CSRP2BP_ENST00000489634.2_5'Flank	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein						chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)	p.?(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ATACCAGCCAGTAAGGAGCTT	0.428																																							uc002wqj.2		NA																	1	Unknown(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.e2+1		CSRP2 binding protein							56.0	49.0	51.0					20																	18123564		2203	4300	6503	SO:0001630	splice_region_variant	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18123564G>T	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.259+1G>T	20.37:g.18123564G>T						CSRP2BP_uc002wqk.2_5'Flank	p.S87_splice	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN			2	881	+								A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Splice_Site	SNP	ENST00000435364.3	37	c.259_splice	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141156	0.77775	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9136	0.97033	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CSRP2BP	18071564	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.138000	0.94501	2.780000	0.95670	0.563000	0.77884	.		0.428	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536	Intron	4	12	1	0	0.000151284	0.001855	0.000167111	4	12				
GZF1	64412	broad.mit.edu	37	20	23350848	23350848	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:23350848G>C	ENST00000338121.5	+	6	1983	c.1906G>C	c.(1906-1908)Gat>Cat	p.D636H	GZF1_ENST00000542987.1_Missense_Mutation_p.D145H|GZF1_ENST00000377051.2_Missense_Mutation_p.D636H|GZF1_ENST00000544236.1_Missense_Mutation_p.D160H			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	636					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)	p.D636H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CAAGCTTTCGGATAAATTGCT	0.478																																							uc010gdb.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1906-1908)GAT>CAT		GDNF-inducible zinc finger protein 1							107.0	86.0	93.0					20																	23350848		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23350848G>C	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1906G>C	20.37:g.23350848G>C	ENSP00000338290:p.Asp636His					GZF1_uc002wsy.2_Missense_Mutation_p.D636H|GZF1_uc010zsq.1_Missense_Mutation_p.D160H|GZF1_uc010zsr.1_Missense_Mutation_p.D145H|GZF1_uc002wsz.2_Missense_Mutation_p.D636H	p.D636H	NM_022482	NP_071927	Q9H116	GZF1_HUMAN			7	2080	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		636					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.1906G>C	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016938	0.54576	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.10382	3.04;2.88;3.33;2.88	5.77	5.77	0.91146	.	0.208186	0.32703	N	0.005755	T	0.14313	0.0346	L	0.29908	0.895	0.52099	D	0.999948	D	0.54397	0.966	P	0.47206	0.541	T	0.00551	-1.1675	10	0.52906	T	0.07	.	18.9709	0.92715	0.0:0.0:1.0:0.0	.	636	Q9H116	GZF1_HUMAN	H	160;636;145;636	ENSP00000445458:D160H;ENSP00000338290:D636H;ENSP00000445118:D145H;ENSP00000366250:D636H	ENSP00000338290:D636H	D	+	1	0	GZF1	23298848	1.000000	0.71417	0.945000	0.38365	0.080000	0.17528	4.994000	0.63901	2.728000	0.93425	0.655000	0.94253	GAT		0.478	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		10	76	0	0	0	0.006214	0	10	76				
NINL	22981	broad.mit.edu	37	20	25481599	25481599	+	Silent	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:25481599C>G	ENST00000278886.6	-	8	982	c.909G>C	c.(907-909)gtG>gtC	p.V303V	NINL_ENST00000422516.1_Silent_p.V303V	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	303				V -> L (in Ref. 5; BAH11644). {ECO:0000305}.	G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.V303V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AGCACAGGGACACGAGGGATG	0.602																																							uc002wux.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(907-909)GTG>GTC		ninein-like							181.0	122.0	142.0					20																	25481599		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25481599C>G		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.909G>C	20.37:g.25481599C>G						NINL_uc010gdn.1_Silent_p.V303V|NINL_uc010gdo.1_Intron|NINL_uc010ztf.1_Silent_p.V319V	p.V303V	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			8	983	-			303	V -> L (in Ref. 5; BAH11644).				A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.909G>C	CCDS33452.1																																																																																				0.602	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		12	17	0	0	0	0.00245	0	12	17				
HCK	3055	broad.mit.edu	37	20	30676371	30676371	+	Splice_Site	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:30676371G>A	ENST00000520553.1	+	10	1199	c.953G>A	c.(952-954)gGa>gAa	p.G318E	HCK_ENST00000538448.1_Splice_Site_p.G318E|HCK_ENST00000375852.2_Splice_Site_p.G339E|HCK_ENST00000518730.1_Splice_Site_p.G317E|HCK_ENST00000534862.1_Splice_Site_p.G319E|HCK_ENST00000375862.2_Splice_Site_p.G338E	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	339	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.G339E(1)|p.G318E(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CCCCATATAGGAAGCTTGCTG	0.443																																							uc002wxh.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9						c.(1015-1017)GGA>GAA		hemopoietic cell kinase isoform p61HCK							63.0	65.0	64.0					20																	30676371		2203	4300	6503	SO:0001630	splice_region_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30676371G>A	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.953-1G>A	20.37:g.30676371G>A						HCK_uc010gdy.2_Missense_Mutation_p.G318E|HCK_uc002wxi.2_Missense_Mutation_p.G317E	p.G339E	NM_002110	NP_002101	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		10	1187	+			339			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.1016G>A	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326407	0.81690	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	4.84	4.84	0.62591	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	D	0.97114	0.9806	9	.	.	.	.	16.6731	0.85271	0.0:0.0:1.0:0.0	.	317;339	P08631-3;P08631	.;HCK_HUMAN	E	319;318;338;318;317;339	ENSP00000444986:G319E;ENSP00000441169:G318E;ENSP00000365022:G338E;ENSP00000429848:G318E;ENSP00000427757:G317E;ENSP00000365012:G339E	.	G	+	2	0	HCK	30140032	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	9.256000	0.95535	2.505000	0.84491	0.549000	0.68633	GGA		0.443	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1		Missense_Mutation	6	58	0	0	0	0.001984	0	6	58				
BPI	671	broad.mit.edu	37	20	36936026	36936026	+	Missense_Mutation	SNP	A	A	G	rs572225651		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:36936026A>G	ENST00000262865.4	+	2	289	c.200A>G	c.(199-201)gAc>gGc	p.D67G	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	67					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.D67G(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				AAGATTCCTGACTACTCAGAC	0.537													A|||	1	0.000199681	0.0	0.0	5008	,	,		21828	0.0		0.0	False		,,,				2504	0.001						uc002xib.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(199-201)GAC>GGC		bactericidal/permeability-increasing protein							120.0	114.0	116.0					20																	36936026		2203	4300	6503	SO:0001583	missense	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36936026A>G	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.200A>G	20.37:g.36936026A>G	ENSP00000262865:p.Asp67Gly						p.D67G	NM_001725	NP_001716	P17213	BPI_HUMAN			2	262	+		Myeloproliferative disorder(115;0.00878)	67					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.200A>G	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.451243	0.43531	.	.	ENSG00000101425	ENST00000262865	T	0.08896	3.04	4.21	0.623	0.17654	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	1.336230	0.04656	N	0.408012	T	0.27731	0.0682	M	0.87381	2.88	0.09310	N	1	P	0.46327	0.876	P	0.52514	0.701	T	0.32798	-0.9893	10	0.72032	D	0.01	-8.6667	10.9311	0.47217	0.8134:0.1866:0.0:0.0	.	67	P17213	BPI_HUMAN	G	67	ENSP00000262865:D67G	ENSP00000262865:D67G	D	+	2	0	BPI	36369440	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.771000	0.26633	0.074000	0.16767	0.533000	0.62120	GAC		0.537	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		17	164	0	0	0	0.007413	0	17	164				
PTPRT	11122	broad.mit.edu	37	20	40747085	40747085	+	Silent	SNP	G	G	T	rs34284587	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:40747085G>T	ENST00000373187.1	-	21	2939	c.2940C>A	c.(2938-2940)tcC>tcA	p.S980S	PTPRT_ENST00000356100.2_Silent_p.S989S|PTPRT_ENST00000373201.1_Silent_p.S970S|PTPRT_ENST00000373193.3_Silent_p.S983S|PTPRT_ENST00000373190.1_Silent_p.S979S|PTPRT_ENST00000373198.4_Silent_p.S999S|PTPRT_ENST00000373184.1_Silent_p.S970S			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	980	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.S1002S(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGATGCTGGCGGAGTTCTCCT	0.537																																							uc002xkg.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(2938-2940)TCC>TCA		protein tyrosine phosphatase, receptor type, T							95.0	94.0	94.0					20																	40747085		2012	4183	6195	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40747085G>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2940C>A	20.37:g.40747085G>T						PTPRT_uc010ggj.2_Silent_p.S999S|PTPRT_uc010ggi.2_Silent_p.S183S	p.S980S	NM_007050	NP_008981	O14522	PTPRT_HUMAN			21	3124	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	980			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.2940C>A	CCDS42874.1																																																																																				0.537	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			14	60	1	0	6.31663e-08	0.003163	7.78376e-08	14	60				
MMP9	4318	broad.mit.edu	37	20	44637694	44637694	+	Missense_Mutation	SNP	G	G	C	rs142807270		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:44637694G>C	ENST00000372330.3	+	1	148	c.129G>C	c.(127-129)caG>caC	p.Q43H		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	43					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q43H(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CCGACAGGCAGCTGGCAGAGG	0.607																																							uc002xqz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(127-129)CAG>CAC		matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						42.0	35.0	37.0					20																	44637694		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44637694G>C		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.129G>C	20.37:g.44637694G>C	ENSP00000361405:p.Gln43His						p.Q43H	NM_004994	NP_004985	P14780	MMP9_HUMAN			1	148	+		Myeloproliferative disorder(115;0.0122)	43					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.129G>C	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557549	0.45590	.	.	ENSG00000100985	ENST00000372330	T	0.36157	1.27	4.28	3.32	0.38043	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.258891	0.37178	N	0.002216	T	0.35998	0.0951	M	0.68317	2.08	0.44587	D	0.997553	B	0.27625	0.183	B	0.29598	0.104	T	0.40776	-0.9545	10	0.62326	D	0.03	.	10.1047	0.42526	0.0983:0.0:0.9017:0.0	.	43	P14780	MMP9_HUMAN	H	43	ENSP00000361405:Q43H	ENSP00000361405:Q43H	Q	+	3	2	MMP9	44071101	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.000000	0.49481	2.373000	0.80994	0.462000	0.41574	CAG		0.607	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			7	24	0	0	0	0.00308	0	7	24				
SLC12A5	57468	broad.mit.edu	37	20	44664168	44664168	+	Silent	SNP	G	G	T	rs183377866		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:44664168G>T	ENST00000454036.2	+	3	391	c.342G>T	c.(340-342)ccG>ccT	p.P114P	SLC12A5_ENST00000608944.1_Silent_p.P40P|SLC12A5_ENST00000243964.3_Silent_p.P91P|SLC12A5_ENST00000372315.1_Silent_p.P91P	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	114					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.P91P(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)	AAAAGAAGCCGGTGCAGGTGA	0.562																																							uc010zxl.1		NA																	1	Substitution - coding silent(1)	p.V114I(1)	lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(340-342)CCG>CCT		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						48.0	57.0	54.0					20																	44664168		2202	4300	6502	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44664168G>T	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.342G>T	20.37:g.44664168G>T						SLC12A5_uc002xra.2_Silent_p.P91P|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Silent_p.P91P	p.P114P	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			3	418	+		Myeloproliferative disorder(115;0.0122)	114			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.342G>T	CCDS46610.1																																																																																				0.562	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			44	42	1	0	4.10826e-27	0.00361	6.59403e-27	44	42				
CDH22	64405	broad.mit.edu	37	20	44815276	44815276	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:44815276C>T	ENST00000372262.3	-	9	2014	c.1614G>A	c.(1612-1614)ctG>ctA	p.L538L	CDH22_ENST00000537909.1_Silent_p.L538L	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L538L(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CTTCAGGCACCAGGCGGAAAT	0.592																																							uc002xrm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(1612-1614)CTG>CTA		cadherin 22 precursor							82.0	77.0	79.0					20																	44815276		2203	4300	6503	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44815276C>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1614G>A	20.37:g.44815276C>T						CDH22_uc010ghk.1_Silent_p.L538L	p.L538L	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			9	2015	-		Myeloproliferative disorder(115;0.0122)	538			Cadherin 5.|Extracellular (Potential).		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.1614G>A	CCDS13395.1																																																																																				0.592	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		9	112	0	0	0	0.006214	0	9	112				
HMGB1P1	10357	broad.mit.edu	37	20	56063760	56063760	+	IGR	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:56063760C>A								RBM38 (79371 upstream) : CTCFL (7274 downstream)														p.E108D(1)									TTGGGTGATACTCAGAGCAGA	0.478																																							uc010zzl.1		NA																	1	Substitution - Missense(1)		lung(1)		NA						c.(322-324)GAG>GAT		high-mobility group box 1-like 1							84.0	88.0	87.0					20																	56063760		2203	4300	6503	SO:0001628	intergenic_variant	0							g.chr20:56063760C>A																													20.37:g.56063760C>A							p.E108D	NM_001008735	NP_001008735					1	324	-									Missense_Mutation	SNP		37	c.324G>T																																																																																				0	0.478									15	119	1	0	2.61681e-11	0.00245	3.49233e-11	15	119				
TUBB1	81027	broad.mit.edu	37	20	57599398	57599399	+	Missense_Mutation	DNP	CG	CG	GT	rs192115302	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:57599398_57599399CG>GT	ENST00000217133.1	+	4	1185_1186	c.916_917CG>GT	c.(916-918)CGc>GTc	p.R306V		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	306					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R306V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CTGTGACCTCCGCCGTGGCCGC	0.634																																							uc002yak.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(916-918)CGC>GTC		beta tubulin 1, class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)																																			SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57599398_57599399CG>GT	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	Exception_encountered	20.37:g.57599398_57599399delinsGT	ENSP00000217133:p.Arg306Val						p.R306V	NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	1185_1186	+	all_lung(29;0.00711)		306						Missense_Mutation	DNP	ENST00000217133.1	37	c.916_917CG>GT	CCDS13475.1																																																																																				0.634	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		4	18	0	0	0	0.004672	0	4	18				
ZNF831	128611	broad.mit.edu	37	20	57769383	57769383	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:57769383G>T	ENST00000371030.2	+	1	3309	c.3309G>T	c.(3307-3309)ctG>ctT	p.L1103L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1103							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.L1103L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTGGGAGCTGGGGGAGCCTC	0.652																																							uc002yan.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(13)|ovary(1)	14						c.(3307-3309)CTG>CTT		zinc finger protein 831							35.0	38.0	37.0					20																	57769383		1905	4116	6021	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769383G>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3309G>T	20.37:g.57769383G>T							p.L1103L	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	3309	+	all_lung(29;0.0085)		1103					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.3309G>T	CCDS42894.1																																																																																				0.652	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		13	71	1	0	3.27435e-08	0.00245	4.07685e-08	13	71				
MYT1	4661	broad.mit.edu	37	20	62836921	62836921	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:62836921C>A	ENST00000328439.1	+	6	529	c.165C>A	c.(163-165)ccC>ccA	p.P55P	MYT1_ENST00000360149.4_Silent_p.P55P|MYT1_ENST00000536311.1_Silent_p.P55P	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Pro-rich.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P55P(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGAGCTGCCCCCTGGCCAAGA	0.642																																					GBM(59;481 1041 20555 21139 33705)	GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(163-165)CCC>CCA		myelin transcription factor 1							64.0	64.0	64.0					20																	62836921		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62836921C>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.165C>A	20.37:g.62836921C>A						MYT1_uc002yih.2_Silent_p.P55P|MYT1_uc002yij.2_5'Flank	p.P55P	NM_004535	NP_004526	Q01538	MYT1_HUMAN			6	529	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		55					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.165C>A	CCDS13558.1																																																																																				0.642	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		26	75	1	0	1.74807e-11	0.002096	2.34163e-11	26	75				
GABPA	2551	broad.mit.edu	37	21	27141328	27141328	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr21:27141328G>T	ENST00000354828.3	+	10	1677	c.1150G>T	c.(1150-1152)Ggg>Tgg	p.G384W	GABPA_ENST00000400075.3_Missense_Mutation_p.G384W	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	384					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II 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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.G384W(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						TTATTACGATGGGGACATGAT	0.343																																							uc002ylx.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1150-1152)GGG>TGG		GA binding protein transcription factor, alpha							78.0	83.0	81.0					21																	27141328		2203	4299	6502	SO:0001583	missense	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27141328G>T		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.1150G>T	21.37:g.27141328G>T	ENSP00000346886:p.Gly384Trp					GABPA_uc002yly.3_Missense_Mutation_p.G384W	p.G384W	NM_002040	NP_002031	Q06546	GABPA_HUMAN			10	1677	+			384			ETS.		Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	c.1150G>T	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797836	0.70567	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.22743	1.94;1.94	5.87	5.87	0.94306	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.54415	0.1857	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57545	-0.7793	10	0.66056	D	0.02	.	19.8069	0.96534	0.0:0.0:1.0:0.0	.	384	Q06546	GABPA_HUMAN	W	384	ENSP00000346886:G384W;ENSP00000382948:G384W	ENSP00000346886:G384W	G	+	1	0	GABPA	26063199	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.413000	0.97351	2.784000	0.95788	0.585000	0.79938	GGG		0.343	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		19	118	1	0	1.01871e-10	0.008871	1.33636e-10	19	118				
APP	351	broad.mit.edu	37	21	27354704	27354704	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr21:27354704T>C	ENST00000346798.3	-	9	1210	c.1177A>G	c.(1177-1179)Aaa>Gaa	p.K393E	APP_ENST00000359726.3_Missense_Mutation_p.K337E|APP_ENST00000358918.3_Missense_Mutation_p.K393E|APP_ENST00000448388.2_Missense_Mutation_p.K283E|APP_ENST00000348990.5_Missense_Mutation_p.K318E|APP_ENST00000440126.3_Missense_Mutation_p.K369E|APP_ENST00000357903.3_Missense_Mutation_p.K374E|APP_ENST00000439274.2_Missense_Mutation_p.K337E|APP_ENST00000354192.3_Missense_Mutation_p.K262E	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	393	Heparin-binding.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.K393E(1)		endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TCTTTGGCTTTCTGGAAATGG	0.493																																							uc002ylz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1177-1179)AAA>GAA		amyloid beta A4 protein isoform a precursor							132.0	110.0	118.0					21																	27354704		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27354704T>C	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1177A>G	21.37:g.27354704T>C	ENSP00000284981:p.Lys393Glu					APP_uc010glk.2_Missense_Mutation_p.K369E|APP_uc002yma.2_Missense_Mutation_p.K374E|APP_uc011ach.1_Missense_Mutation_p.K337E|APP_uc002ymb.2_Missense_Mutation_p.K318E|APP_uc010glj.2_Missense_Mutation_p.K262E|APP_uc011aci.1_Missense_Mutation_p.K283E	p.K393E	NM_000484	NP_000475	P05067	A4_HUMAN			9	1377	-		Breast(209;0.00295)	393			Extracellular (Potential).|Heparin-binding.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.1177A>G	CCDS13576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.5|21.5	4.161917|4.161917	0.78226|0.78226	.|.	.|.	ENSG00000142192|ENSG00000142192	ENST00000448850;ENST00000415997|ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274	.|T;T;T;T;T;T;T;T;T	.|0.39787	.|1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.45|5.45	5.45|5.45	0.79879|0.79879	.|Amyloidogenic glycoprotein, E2 domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55847|0.55847	0.1946|0.1946	L|L	0.41492|0.41492	1.28|1.28	0.80722|0.80722	D|D	1|1	.|D;D;P;D;P;P;P	.|0.59357	.|0.985;0.974;0.902;0.982;0.88;0.88;0.881	.|P;P;D;P;D;D;P	.|0.70016	.|0.856;0.856;0.967;0.775;0.945;0.945;0.786	T|T	0.58493|0.58493	-0.7627|-0.7627	5|10	.|0.87932	.|D	.|0	-27.1274|-27.1274	15.3372|15.3372	0.74266|0.74266	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|283;337;369;262;318;374;393	.|E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.|.;.;.;.;.;.;A4_HUMAN	G|E	295;127|393;262;318;374;393;337;283;369;337	.|ENSP00000284981:K393E;ENSP00000346129:K262E;ENSP00000345463:K318E;ENSP00000350578:K374E;ENSP00000351796:K393E;ENSP00000352760:K337E;ENSP00000388538:K283E;ENSP00000387483:K369E;ENSP00000398879:K337E	.|ENSP00000284981:K393E	E|K	-|-	2|1	0|0	APP|APP	26276575|26276575	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.525000|7.525000	0.81892|0.81892	2.288000|2.288000	0.76882|0.76882	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.493	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		4	53	0	0	0	0.001168	0	4	53				
ADAMTS5	11096	broad.mit.edu	37	21	28302316	28302316	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr21:28302316C>A	ENST00000284987.5	-	7	2235	c.2114G>T	c.(2113-2115)aGa>aTa	p.R705I	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	705	Cys-rich.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R705I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						ACAGCCAGTTCTCACACACTT	0.493																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(2113-2115)AGA>ATA		ADAM metallopeptidase with thrombospondin type 1							242.0	215.0	224.0					21																	28302316		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28302316C>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2114G>T	21.37:g.28302316C>A	ENSP00000284987:p.Arg705Ile						p.R705I	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			7	2843	-			705			Cys-rich.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.2114G>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018475	0.75275	.	.	ENSG00000154736	ENST00000284987	T	0.59638	0.25	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.72803	0.3506	L	0.46670	1.46	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.72593	-0.4246	10	0.72032	D	0.01	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	705	Q9UNA0	ATS5_HUMAN	I	705	ENSP00000284987:R705I	ENSP00000284987:R705I	R	-	2	0	ADAMTS5	27224187	0.997000	0.39634	0.247000	0.24249	0.562000	0.35680	7.440000	0.80464	2.837000	0.97791	0.655000	0.94253	AGA		0.493	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			18	211	1	0	2.4624e-09	0.008871	3.16091e-09	18	211				
KRTAP11-1	337880	broad.mit.edu	37	21	32253398	32253398	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr21:32253398C>T	ENST00000332378.4	-	1	476	c.446G>A	c.(445-447)aGg>aAg	p.R149K		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	149	4 X 10 AA approximate repeats.					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R149K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CTGATACGTCCTGGAGACCCC	0.587																																							uc002yov.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(445-447)AGG>AAG		keratin associated protein 11-1							64.0	65.0	64.0					21																	32253398		2203	4300	6503	SO:0001583	missense	337880					keratin filament	structural molecule activity	g.chr21:32253398C>T	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.446G>A	21.37:g.32253398C>T	ENSP00000330720:p.Arg149Lys						p.R149K	NM_175858	NP_787054	Q8IUC1	KR111_HUMAN			1	477	-			149			4.|4 X 10 AA approximate repeats.		A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.446G>A	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466397	0.63625	.	.	ENSG00000182591	ENST00000332378	T	0.02890	4.12	5.4	4.51	0.55191	.	0.330172	0.31102	N	0.008256	T	0.05731	0.0150	M	0.74647	2.275	0.33546	D	0.595462	B	0.32409	0.37	B	0.34242	0.178	T	0.08289	-1.0729	10	0.29301	T	0.29	-3.9529	12.2634	0.54663	0.0:0.917:0.0:0.083	.	149	Q8IUC1	KR111_HUMAN	K	149	ENSP00000330720:R149K	ENSP00000330720:R149K	R	-	2	0	KRTAP11-1	31175269	0.997000	0.39634	0.997000	0.53966	0.692000	0.40212	3.231000	0.51294	1.446000	0.47643	0.650000	0.86243	AGG		0.587	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			8	67	0	0	0	0.00245	0	8	67				
SON	6651	broad.mit.edu	37	21	34923708	34923708	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr21:34923708A>G	ENST00000356577.4	+	3	2646	c.2171A>G	c.(2170-2172)cAt>cGt	p.H724R	SON_ENST00000300278.4_Missense_Mutation_p.H724R|SON_ENST00000290239.6_Missense_Mutation_p.H724R|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.H724R	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	724					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.H724R(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ATGGAGACCCATATATTAGCA	0.493																																							uc002yse.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(2170-2172)CAT>CGT		SON DNA-binding protein isoform F							130.0	127.0	128.0					21																	34923708		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923708A>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2171A>G	21.37:g.34923708A>G	ENSP00000348984:p.His724Arg					SON_uc002ysb.1_Missense_Mutation_p.H724R|SON_uc002ysc.2_Missense_Mutation_p.H724R|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	p.H724R	NM_138927	NP_620305	P18583	SON_HUMAN			3	2220	+			724					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.2171A>G	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	A	11.13	1.547538	0.27652	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.30182	2.9;1.54;2.89;1.54	5.5	5.5	0.81552	.	0.109676	0.41712	D	0.000834	T	0.31358	0.0794	L	0.44542	1.39	0.32931	D	0.517137	P;P;B	0.50156	0.932;0.813;0.038	B;P;B	0.47430	0.345;0.547;0.031	T	0.46665	-0.9175	10	0.40728	T	0.16	.	9.7786	0.40634	0.8267:0.1733:0.0:0.0	.	724;724;724	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	R	724	ENSP00000348984:H724R;ENSP00000290239:H724R;ENSP00000300278:H724R;ENSP00000371095:H724R	ENSP00000290239:H724R	H	+	2	0	SON	33845578	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.398000	0.44486	2.098000	0.63641	0.451000	0.29950	CAT		0.493	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		16	162	0	0	0	0.00499	0	16	162				
MRPS6	64968	broad.mit.edu	37	21	35514856	35514856	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr21:35514856C>T	ENST00000399312.2	+	3	512	c.334C>T	c.(334-336)Cca>Tca	p.P112S	MRPS6_ENST00000482679.1_3'UTR|AP000320.7_ENST00000362077.4_RNA	NM_032476.3	NP_115865.1	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	112					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.P112S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						TGTCCCAGTCCCACTCGCAGA	0.423																																							uc002ytp.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(334-336)CCA>TCA		mitochondrial ribosomal protein S6							66.0	62.0	63.0					21																	35514856		2203	4300	6503	SO:0001583	missense	64968				translation	mitochondrion|small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr21:35514856C>T	AB051347	CCDS33548.1	21q22.11	2012-09-13	2002-06-20		ENSG00000243927	ENSG00000243927		"""Mitochondrial ribosomal proteins / small subunits"""	14051	protein-coding gene	gene with protein product		611973	"""chromosome 21 open reading frame 101"""	C21orf101			Standard	NM_032476		Approved	MRP-S6, RPMS6	uc002ytp.2	P82932	OTTHUMG00000065820	ENST00000399312.2:c.334C>T	21.37:g.35514856C>T	ENSP00000382250:p.Pro112Ser						p.P112S	NM_032476	NP_115865	P82932	RT06_HUMAN			3	512	+			112					B2R573|Q96Q64|Q9BSK8|Q9BW89	Missense_Mutation	SNP	ENST00000399312.2	37	c.334C>T	CCDS33548.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114388	0.37339	.	.	ENSG00000243927	ENST00000399312	.	.	.	5.65	5.65	0.86999	.	0.545405	0.15748	U	0.246541	T	0.50171	0.1600	M	0.63428	1.95	0.30916	N	0.728529	B	0.17852	0.024	B	0.18561	0.022	T	0.49735	-0.8908	9	0.29301	T	0.29	-4.6631	12.2059	0.54353	0.1703:0.8297:0.0:0.0	.	112	P82932	RT06_HUMAN	S	112	.	ENSP00000382250:P112S	P	+	1	0	MRPS6	34436726	0.991000	0.36638	1.000000	0.80357	0.781000	0.44180	2.730000	0.47335	2.668000	0.90789	0.591000	0.81541	CCA		0.423	MRPS6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141033.1	NM_032476		8	105	0	0	0	0.00308	0	8	105				
POTEH	23784	broad.mit.edu	37	22	16287898	16287898	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:16287898G>T	ENST00000343518.6	-	0	39					NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H											NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GCTTTTAACAGCCAGGGAAGG	0.532																																							uc010gqp.2		NA																	0				skin(1)	1						c.(-14--10)GGCTG>GGATG		ANKRD26-like family C, member 3							77.0	87.0	83.0					22																	16287898		1989	3840	5829			23784							g.chr22:16287898G>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.-13C>A	22.37:g.16287898G>T						POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Translation_Start_Site		NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			1	40	-								A2CEK4|A6NCI1|A9Z1W0	Translation_Start_Site	SNP	ENST00000343518.6	37	c.-12C>A	CCDS46658.1																																																																																				0.532	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		32	60	1	0	3.76525e-18	0.00361	5.62437e-18	32	60				
CCT8L2	150160	broad.mit.edu	37	22	17073111	17073111	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:17073111C>T	ENST00000359963.3	-	1	589	c.330G>A	c.(328-330)ctG>ctA	p.L110L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	110					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.L110L(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)				CTTCCGTCAGCAGAACCACGA	0.662																																							uc002zlp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(328-330)CTG>CTA		T-complex protein 1							66.0	53.0	58.0					22																	17073111		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073111C>T	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.330G>A	22.37:g.17073111C>T							p.L110L	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	590	-	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)	110					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.330G>A	CCDS13738.1																																																																																				0.662	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			12	48	0	0	0	0.001855	0	12	48				
TANGO2	128989	broad.mit.edu	37	22	20040998	20040998	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:20040998A>T	ENST00000327374.4	+	5	482	c.304A>T	c.(304-306)Agc>Tgc	p.S102C	TANGO2_ENST00000401833.1_Missense_Mutation_p.S143C|TANGO2_ENST00000432883.1_Intron|TANGO2_ENST00000398042.2_Intron|TANGO2_ENST00000479679.1_3'UTR|TANGO2_ENST00000401886.1_Intron|TANGO2_ENST00000447208.2_Missense_Mutation_p.S102C|TANGO2_ENST00000420290.2_Intron|TANGO2_ENST00000434570.2_Missense_Mutation_p.S143C|TANGO2_ENST00000456048.1_Missense_Mutation_p.S107C	NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4	NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3	Q6ICL3	TNG2_HUMAN	transport and golgi organization 2 homolog (Drosophila)	102								p.S102C(1)									TGACGTGGACAGCTTGTCCTA	0.562																																							uc010grw.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(304-306)AGC>TGC		hypothetical protein LOC128989							169.0	117.0	135.0					22																	20040998		2203	4300	6503	SO:0001583	missense	128989							g.chr22:20040998A>T		CCDS13772.1, CCDS63404.1, CCDS63405.1, CCDS63406.1, CCDS63407.1, CCDS74821.1, CCDS74822.1	22q11.21	2012-12-13	2012-12-13	2012-12-13	ENSG00000183597	ENSG00000183597			25439	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 25"""	C22orf25		12477932	Standard	XM_005261222		Approved	DKFZp761P1121	uc002zrc.1	Q6ICL3	OTTHUMG00000150510	ENST00000327374.4:c.304A>T	22.37:g.20040998A>T	ENSP00000332721:p.Ser102Cys					C22orf25_uc002zrb.1_Intron|C22orf25_uc002zrc.1_Missense_Mutation_p.S102C|C22orf25_uc002zrd.1_Missense_Mutation_p.S68C|C22orf25_uc002zre.2_Missense_Mutation_p.S102C|C22orf25_uc010grx.2_Intron|C22orf25_uc011ahe.1_Intron|C22orf25_uc011ahf.1_Intron|C22orf25_uc011ahg.1_Missense_Mutation_p.S143C|C22orf25_uc002zrg.2_Missense_Mutation_p.S143C|C22orf25_uc011ahh.1_Missense_Mutation_p.S102C|C22orf25_uc002zrf.2_Intron|C22orf25_uc011ahi.1_Intron|C22orf25_uc010gry.1_Intron|C22orf25_uc002zrh.1_Intron	p.S102C	NM_152906	NP_690870	Q6ICL3	CV025_HUMAN			6	641	+	Colorectal(54;0.0533)		102					A8MUE9|B7WNV6|B7Z583|B7Z730|D3DX23|Q8IW05|Q8NAL0|Q8TCS0|Q96M16	Missense_Mutation	SNP	ENST00000327374.4	37	c.304A>T	CCDS13772.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.817322	0.50633	.	.	ENSG00000183597	ENST00000447208;ENST00000450664;ENST00000327374;ENST00000401833;ENST00000434168;ENST00000434570;ENST00000456048	T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85	4.61	4.61	0.57282	.	0.040155	0.85682	D	0.000000	T	0.29458	0.0734	L	0.58969	1.84	0.80722	D	1	B;B;B;B;B;B	0.32604	0.188;0.377;0.331;0.319;0.075;0.044	B;B;B;B;B;B	0.36922	0.094;0.236;0.125;0.161;0.055;0.081	T	0.12091	-1.0561	10	0.59425	D	0.04	-37.69	12.0155	0.53311	1.0:0.0:0.0:0.0	.	102;143;143;102;107;102	B7Z9Q5;B7Z730;B7WNV6;Q6AHY1;C9JC99;Q6ICL3	.;.;.;.;.;CV025_HUMAN	C	102;102;102;143;102;143;107	ENSP00000389797:S102C;ENSP00000415450:S102C;ENSP00000332721:S102C;ENSP00000384827:S143C;ENSP00000411602:S102C;ENSP00000391262:S143C;ENSP00000403645:S107C	ENSP00000332721:S102C	S	+	1	0	C22orf25	18420998	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.288000	0.51739	1.936000	0.56123	0.482000	0.46254	AGC		0.562	TANGO2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318689.2	NM_152906		7	77	0	0	0	0.00308	0	7	77				
SMTN	6525	broad.mit.edu	37	22	31484540	31484540	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:31484540G>T	ENST00000347557.2	+	4	460	c.242G>T	c.(241-243)cGg>cTg	p.R81L	SMTN_ENST00000358743.1_Missense_Mutation_p.R81L|SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000333137.7_Missense_Mutation_p.R81L	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	81					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.R81L(2)|p.R73L(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCCCTGGCACGGCTGGCAGGG	0.642																																							uc003ajl.1		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(2)|pancreas(1)	3						c.(241-243)CGG>CTG		smoothelin isoform c							56.0	65.0	62.0					22																	31484540		2200	4300	6500	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31484540G>T	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.242G>T	22.37:g.31484540G>T	ENSP00000328635:p.Arg81Leu					SMTN_uc003ajk.1_Missense_Mutation_p.R81L|SMTN_uc003ajm.1_Missense_Mutation_p.R81L|SMTN_uc011ale.1_Missense_Mutation_p.R135L|SMTN_uc011alf.1_Missense_Mutation_p.R137L|SMTN_uc003ajn.1_Missense_Mutation_p.R73L|SMTN_uc011alg.1_5'Flank	p.R81L	NM_006932	NP_008863	P53814	SMTN_HUMAN			4	460	+			81			Potential.		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.242G>T	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267217	0.40095	.	.	ENSG00000183963	ENST00000426927;ENST00000440425;ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000431481	T;T;T;T;T;T	0.48201	0.82;0.96;0.98;0.98;0.98;0.98	4.79	-6.19	0.02078	.	0.482242	0.15659	N	0.250985	T	0.18087	0.0434	N	0.08118	0	0.20638	N	0.999874	B;B;P;P;B;B	0.36354	0.001;0.001;0.549;0.549;0.001;0.001	B;B;B;B;B;B	0.36092	0.004;0.006;0.217;0.217;0.003;0.002	T	0.19031	-1.0318	10	0.37606	T	0.19	-7.5306	3.8067	0.08780	0.3929:0.1601:0.3691:0.0779	.	137;135;73;81;81;81	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	L	135;135;81;81;81;81;73;73	ENSP00000399432:R135L;ENSP00000401341:R135L;ENSP00000351593:R81L;ENSP00000328635:R81L;ENSP00000329532:R81L;ENSP00000394637:R73L	ENSP00000329393:R81L	R	+	2	0	SMTN	29814540	0.000000	0.05858	0.851000	0.33527	0.978000	0.69477	-0.165000	0.09968	-0.553000	0.06158	-0.736000	0.03550	CGG		0.642	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		30	151	1	0	3.93418e-24	0.004289	6.24943e-24	30	151				
BPIFC	254240	broad.mit.edu	37	22	32841622	32841622	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:32841622C>A	ENST00000397452.1	-	6	704	c.594G>T	c.(592-594)atG>atT	p.M198I	BPIFC_ENST00000534972.1_Intron|BPIFC_ENST00000300399.3_Splice_Site_p.M198I|BPIFC_ENST00000432451.2_Splice_Site_p.M12I			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	198						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.M198I(1)									AAAGACTCACCATTTCATTTA	0.289																																							uc003amn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(592-594)ATG>ATT		bactericidal/permeability-increasing							122.0	130.0	128.0					22																	32841622		2203	4300	6503	SO:0001630	splice_region_variant	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32841622C>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.594+1G>T	22.37:g.32841622C>A						BPIL2_uc010gwo.2_Missense_Mutation_p.M12I|BPIL2_uc011amb.1_Intron	p.M198I	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			5	594	-			198					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.594G>T	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939598	0.34189	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	T;T;T	0.05319	3.46;3.46;3.65	5.43	3.36	0.38483	.	0.328997	0.37053	N	0.002265	T	0.06416	0.0165	L	0.51422	1.61	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.12837	0.001;0.008	T	0.24584	-1.0156	9	.	.	.	-6.9865	7.4436	0.27198	0.0:0.8101:0.0:0.1899	.	12;198	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	I	198;198;12	ENSP00000380594:M198I;ENSP00000300399:M198I;ENSP00000408920:M12I	.	M	-	3	0	BPIFC	31171622	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	0.771000	0.26633	1.290000	0.44636	0.650000	0.86243	ATG		0.289	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	Missense_Mutation	14	246	1	0	0.000566183	0.00499	0.000612844	14	246				
HMOX1	3162	broad.mit.edu	37	22	35783020	35783020	+	Missense_Mutation	SNP	G	G	C	rs200053095		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:35783020G>C	ENST00000216117.8	+	3	826	c.487G>C	c.(487-489)Ggc>Cgc	p.G163R		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	163					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.G163R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	CTCTGGCGAGGGCCTGGCCTT	0.622																																							uc003ant.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(487-489)GGC>CGC		heme oxygenase (decyclizing) 1	NADH(DB00157)						56.0	57.0	57.0					22																	35783020		2200	4299	6499	SO:0001583	missense	3162				angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity	g.chr22:35783020G>C		CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.487G>C	22.37:g.35783020G>C	ENSP00000216117:p.Gly163Arg						p.G163R	NM_002133	NP_002124	P09601	HMOX1_HUMAN			3	567	+			163						Missense_Mutation	SNP	ENST00000216117.8	37	c.487G>C	CCDS13914.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704303	0.88924	.	.	ENSG00000100292	ENST00000412893;ENST00000216117	T;T	0.31510	1.49;1.49	5.71	4.67	0.58626	Haem oxygenase-like, multi-helical (2);	0.046468	0.85682	D	0.000000	T	0.68659	0.3025	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80946	-0.1155	10	0.87932	D	0	-39.2024	15.9526	0.79855	0.0:0.0:0.864:0.136	.	163	P09601	HMOX1_HUMAN	R	163	ENSP00000413316:G163R;ENSP00000216117:G163R	ENSP00000216117:G163R	G	+	1	0	HMOX1	34113020	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.746000	0.98859	1.375000	0.46248	0.655000	0.94253	GGC		0.622	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1			9	95	0	0	0	0.006214	0	9	95				
RBFOX2	23543	broad.mit.edu	37	22	36177704	36177704	+	Silent	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:36177704C>G	ENST00000438146.2	-	4	551	c.552G>C	c.(550-552)ctG>ctC	p.L184L	RBFOX2_ENST00000416721.2_Silent_p.L113L|RBFOX2_ENST00000262829.7_Silent_p.L113L|RBFOX2_ENST00000405409.2_Silent_p.L114L|RBFOX2_ENST00000397303.2_Silent_p.L94L|RBFOX2_ENST00000414461.2_Silent_p.L113L|RBFOX2_ENST00000359369.4_Silent_p.L93L|RBFOX2_ENST00000449924.2_Silent_p.L113L	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	123	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.L114L(1)		endometrium(4)|large_intestine(7)|lung(7)	18						TAGAGACATGCAGCCGTTTCG	0.458																																							uc003aon.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(550-552)CTG>CTC		RNA binding motif protein 9 isoform 5							163.0	170.0	168.0					22																	36177704		2203	4300	6503	SO:0001819	synonymous_variant	23543				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	g.chr22:36177704C>G	AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.552G>C	22.37:g.36177704C>G						RBM9_uc003aog.3_Silent_p.L94L|RBM9_uc003aol.3_Silent_p.L113L|RBM9_uc003aoj.3_Silent_p.L113L|RBM9_uc003aok.3_Silent_p.L114L|RBM9_uc003aoh.3_Silent_p.L113L|RBM9_uc003aom.3_Silent_p.L113L|RBM9_uc010gwu.2_Silent_p.L93L|RBM9_uc003aoo.3_Silent_p.L183L|RBM9_uc003aop.3_Silent_p.L113L	p.L184L	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN			4	664	-			123			RRM.		A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Silent	SNP	ENST00000438146.2	37	c.552G>C	CCDS43013.1																																																																																				0.458	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319299.3			74	237	0	0	0	0.00361	0	74	237				
MYH9	4627	broad.mit.edu	37	22	36691697	36691697	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:36691697G>T	ENST00000216181.5	-	26	3569	c.3339C>A	c.(3337-3339)atC>atA	p.I1113I		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1113					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.I1113I(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGAGTTCAGAGATCTGAGATT	0.522			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																														uc003apg.2		NA		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(3337-3339)ATC>ATA		myosin, heavy polypeptide 9, non-muscle							49.0	47.0	48.0					22																	36691697		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36691697G>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3339C>A	22.37:g.36691697G>T							p.I1113I	NM_002473	NP_002464	P35579	MYH9_HUMAN			26	3570	-			1113			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.3339C>A	CCDS13927.1																																																																																				0.522	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		9	36	1	0	0.000274275	0.004482	0.000298378	9	36				
ACO2	50	broad.mit.edu	37	22	41923336	41923336	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:41923336C>A	ENST00000216254.4	+	16	2020	c.1998C>A	c.(1996-1998)ggC>ggA	p.G666G	POLR3H_ENST00000355209.4_3'UTR|ACO2_ENST00000396512.3_Silent_p.G691G|POLR3H_ENST00000396504.2_3'UTR	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	666					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)	p.G666G(1)		breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						AGAACTACGGCGAGGGCTCGA	0.622											OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003bac.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|lung(1)	4						c.(1996-1998)GGC>GGA		aconitase 2, mitochondrial precursor							61.0	55.0	57.0					22																	41923336		2203	4300	6503	SO:0001819	synonymous_variant	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41923336C>A	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.1998C>A	22.37:g.41923336C>A			OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	904	ACO2_uc003bad.2_Silent_p.G691G|POLR3H_uc003bae.2_RNA|POLR3H_uc003baf.2_3'UTR|POLR3H_uc003bag.2_3'UTR|POLR3H_uc003bai.2_3'UTR	p.G666G	NM_001098	NP_001089	Q99798	ACON_HUMAN			16	2020	+			666					O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Silent	SNP	ENST00000216254.4	37	c.1998C>A	CCDS14017.1																																																																																				0.622	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		5	56	1	0	0.00448238	0.004482	0.00471438	5	56				
CNTN6	27255	broad.mit.edu	37	3	1445042	1445042	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:1445042C>A	ENST00000446702.2	+	23	3654	c.3027C>A	c.(3025-3027)acC>acA	p.T1009T	CNTN6_ENST00000350110.2_Silent_p.T1009T|CNTN6_ENST00000539053.1_Silent_p.T937T			Q9UQ52	CNTN6_HUMAN	contactin 6	1009					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T1009T(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AACCTAGCACCCATTTTCTTT	0.299																																							uc003boz.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(3025-3027)ACC>ACA		contactin 6 precursor							90.0	87.0	88.0					3																	1445042		2203	4299	6502	SO:0001819	synonymous_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1445042C>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.3027C>A	3.37:g.1445042C>A						CNTN6_uc011asj.1_Silent_p.T937T|CNTN6_uc003bpa.2_Silent_p.T1009T	p.T1009T	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	23	3294	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	1009					Q2KHM2	Silent	SNP	ENST00000446702.2	37	c.3027C>A	CCDS2557.1																																																																																				0.299	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		6	28	1	0	0.00448238	0.004482	0.00471438	6	28				
CNTN4	152330	broad.mit.edu	37	3	3078979	3078979	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:3078979C>A	ENST00000397461.1	+	17	2443	c.2059C>A	c.(2059-2061)Cgc>Agc	p.R687S	CNTN4_ENST00000358480.3_Missense_Mutation_p.R468S|CNTN4_ENST00000427331.1_Missense_Mutation_p.R687S|CNTN4_ENST00000418658.1_Missense_Mutation_p.R687S|CNTN4_ENST00000448906.2_Missense_Mutation_p.R359S|CNTN4_ENST00000397459.2_Missense_Mutation_p.R359S|CNTN4-AS1_ENST00000442749.2_RNA	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	687	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R359S(1)|p.R687S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGAGCCCAGCCGCCCCTCAGA	0.522																																							uc003bpc.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(2059-2061)CGC>AGC		contactin 4 isoform a precursor							159.0	171.0	167.0					3																	3078979		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3078979C>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2059C>A	3.37:g.3078979C>A	ENSP00000380602:p.Arg687Ser					CNTN4_uc003bpb.1_Missense_Mutation_p.R358S|CNTN4_uc003bpd.1_Missense_Mutation_p.R687S|CNTN4_uc003bpe.2_Missense_Mutation_p.R359S|CNTN4_uc003bpf.2_Missense_Mutation_p.R358S|CNTN4_uc003bpg.2_5'Flank	p.R687S	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	17	2280	+		Ovarian(110;0.156)	687			Fibronectin type-III 1.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.2059C>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	6.219	0.408536	0.11812	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	5.48	4.6	0.57074	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.185910	0.45867	D	0.000330	T	0.24470	0.0593	N	0.04260	-0.245	0.38922	D	0.95776	B;B;B	0.10296	0.001;0.003;0.002	B;B;B	0.16289	0.015;0.003;0.003	T	0.09930	-1.0652	10	0.09590	T	0.72	.	13.8483	0.63481	0.3316:0.6684:0.0:0.0	.	686;687;687	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	S	687;687;687;468;359;359	ENSP00000396010:R687S;ENSP00000380602:R687S;ENSP00000413642:R687S;ENSP00000351267:R468S;ENSP00000380600:R359S;ENSP00000392077:R359S	ENSP00000351267:R468S	R	+	1	0	CNTN4	3053979	1.000000	0.71417	0.994000	0.49952	0.729000	0.41735	2.760000	0.47581	1.287000	0.44583	0.655000	0.94253	CGC		0.522	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			38	274	1	0	3.09479e-21	0.006999	4.78892e-21	38	274				
ATP2B2	491	broad.mit.edu	37	3	10417183	10417183	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:10417183C>A	ENST00000352432.4	-	10	1416	c.1347G>T	c.(1345-1347)acG>acT	p.T449T	ATP2B2_ENST00000360273.2_Silent_p.T449T|ATP2B2_ENST00000343816.4_Silent_p.T435T|ATP2B2_ENST00000397077.1_Silent_p.T404T|ATP2B2_ENST00000383800.4_Silent_p.T404T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	449					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.T449T(1)|p.T404T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCACCAGCACCGTCACGCCAA	0.612																																					Ovarian(125;1619 1709 15675 19819 38835)	Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1345-1347)ACG>ACT		plasma membrane calcium ATPase 2 isoform 1							87.0	84.0	85.0					3																	10417183		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10417183C>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1347G>T	3.37:g.10417183C>A						ATP2B2_uc003bvv.2_Silent_p.T404T|ATP2B2_uc003bvw.2_Silent_p.T404T|ATP2B2_uc010hdo.2_Silent_p.T154T	p.T449T	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			11	1786	-			449			Helical; (Potential).		O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1347G>T	CCDS33701.1																																																																																				0.612	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		22	85	1	0	2.32416e-17	0.002299	3.44308e-17	22	85				
NUP210	23225	broad.mit.edu	37	3	13427867	13427867	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:13427867T>G	ENST00000254508.5	-	6	807	c.725A>C	c.(724-726)aAc>aCc	p.N242T		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	242					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.N242T(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)					CAGAAGGATGTTTTCCAAAAT	0.498																																							uc003bxv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(724-726)AAC>ACC		nucleoporin 210 precursor							180.0	162.0	168.0					3																	13427867		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.chr3:13427867T>G	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.725A>C	3.37:g.13427867T>G	ENSP00000254508:p.Asn242Thr						p.N242T	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			6	808	-	all_neural(104;0.187)		242			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.725A>C	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.921534	0.52653	.	.	ENSG00000132182	ENST00000254508	T	0.07444	3.19	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02852	-1.1102	10	0.41790	T	0.15	-32.5078	15.2677	0.73675	0.0:0.0:0.0:1.0	.	242	Q8TEM1	PO210_HUMAN	T	242	ENSP00000254508:N242T	ENSP00000254508:N242T	N	-	2	0	NUP210	13402867	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	6.227000	0.72282	2.088000	0.63022	0.533000	0.62120	AAC		0.498	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		8	113	0	0	0	0.008291	0	8	113				
GRIP2	80852	broad.mit.edu	37	3	14564532	14564532	+	RNA	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:14564532C>T	ENST00000273083.3	-	0	606							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.V181M(1)		endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCGGGCCGCACGTAGGTCAGG	0.612																																							uc011avi.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(832-834)GTG>ATG		glutamate receptor interacting protein 2							63.0	71.0	68.0					3																	14564532		2008	4156	6164			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14564532C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14564532C>T						GRIP2_uc011avh.1_Translation_Start_Site|GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_3'UTR	p.V278M	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			7	832	-			181			PDZ 2.		Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37	c.832G>A																																																																																					0.612	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		7	85	0	0	0	0.000978	0	7	85				
EFHB	151651	broad.mit.edu	37	3	19975080	19975080	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:19975080C>A	ENST00000295824.9	-	1	592	c.431G>T	c.(430-432)aGa>aTa	p.R144I	EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	144							calcium ion binding (GO:0005509)	p.R142I(1)|p.R144I(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CAAAGGAGCTCTCCTGCTCCC	0.488																																							uc003cbl.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(430-432)AGA>ATA		EF hand domain family, member B							68.0	73.0	72.0					3																	19975080		2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19975080C>A	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.431G>T	3.37:g.19975080C>A	ENSP00000295824:p.Arg144Ile					EFHB_uc003cbm.2_Intron	p.R144I	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN			1	627	-			144					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.431G>T	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807399	0.31961	.	.	ENSG00000163576	ENST00000295824;ENST00000389256	T;T	0.36520	1.25;1.49	3.73	0.933	0.19471	.	.	.	.	.	T	0.33000	0.0848	L	0.50333	1.59	0.09310	N	0.999995	P	0.52316	0.952	P	0.46144	0.505	T	0.14090	-1.0485	8	.	.	.	-3.425	5.7101	0.17931	0.0:0.6447:0.0:0.3553	.	144	Q8N7U6	EFHB_HUMAN	I	144	ENSP00000295824:R144I;ENSP00000373908:R144I	.	R	-	2	0	EFHB	19950084	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.154000	0.16343	0.190000	0.20209	0.561000	0.74099	AGA		0.488	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		22	96	1	0	5.35356e-11	0.00278	7.05726e-11	22	96				
GADL1	339896	broad.mit.edu	37	3	30891521	30891521	+	Silent	SNP	A	A	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:30891521A>C	ENST00000282538.5	-	6	768	c.618T>G	c.(616-618)ggT>ggG	p.G206G	GADL1_ENST00000454381.3_Silent_p.G206G	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	206					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)	p.G206G(1)|p.G22G(1)		breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						ATCTTGGCGAACCAGACAGCC	0.333																																							uc003cep.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(616-618)GGT>GGG		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						85.0	82.0	83.0					3																	30891521		2203	4300	6503	SO:0001819	synonymous_variant	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30891521A>C	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.618T>G	3.37:g.30891521A>C						GADL1_uc003ceq.1_Silent_p.G206G	p.G206G	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN			6	665	-			206						Silent	SNP	ENST00000282538.5	37	c.618T>G	CCDS2649.2																																																																																				0.333	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		9	74	0	0	0	0.008291	0	9	74				
C3orf35	339883	broad.mit.edu	37	3	37458897	37458897	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:37458897G>T	ENST00000328376.5	+	5	1119	c.140G>T	c.(139-141)aGa>aTa	p.R47I	C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000426078.1_Missense_Mutation_p.R47I|C3orf35_ENST00000425564.2_Missense_Mutation_p.R47I|C3orf35_ENST00000425932.1_Missense_Mutation_p.R47I|C3orf35_ENST00000452017.2_Missense_Mutation_p.R47I	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	47						integral component of membrane (GO:0016021)		p.R47I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						ATAATAAACAGAGGAAGGCGG	0.468																																							uc003cha.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(139-141)AGA>ATA		AP20 region protein isoform B							102.0	99.0	100.0					3																	37458897		1873	4105	5978	SO:0001583	missense	339883					integral to membrane		g.chr3:37458897G>T	AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"""AP20 region protein"", ""APRG1 tumor suppressor candidate"""	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.140G>T	3.37:g.37458897G>T	ENSP00000331625:p.Arg47Ile					C3orf35_uc003chb.2_Missense_Mutation_p.R47I	p.R47I	NM_178339	NP_848029	Q8IVJ8	APRG1_HUMAN			5	804	+			47					B7ZMA0|Q8IVJ5|Q8IVJ9	Missense_Mutation	SNP	ENST00000328376.5	37	c.140G>T	CCDS43065.1	.	.	.	.	.	.	.	.	.	.	g	12.11	1.841034	0.32513	.	.	ENSG00000198590	ENST00000425932;ENST00000328376;ENST00000452017;ENST00000426078;ENST00000425564	T	0.56103	0.48	4.15	2.34	0.29019	.	.	.	.	.	T	0.27205	0.0667	N	0.08118	0	0.29356	N	0.865	B;P	0.40332	0.18;0.713	B;B	0.33339	0.112;0.162	T	0.13602	-1.0503	9	0.62326	D	0.03	.	7.2873	0.26346	0.0:0.1878:0.6173:0.1949	.	47;47	Q8IVJ8-3;Q8IVJ8	.;APRG1_HUMAN	I	47	ENSP00000331625:R47I	ENSP00000331625:R47I	R	+	2	0	C3orf35	37433901	0.998000	0.40836	0.995000	0.50966	0.682000	0.39822	0.782000	0.26788	0.699000	0.31761	-0.215000	0.12644	AGA		0.468	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342344.2	NM_178338		28	121	1	0	9.65021e-13	0.002096	1.33247e-12	28	121				
SCN10A	6336	broad.mit.edu	37	3	38766748	38766748	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:38766748C>A	ENST00000449082.2	-	17	3144	c.3145G>T	c.(3145-3147)Ggc>Tgc	p.G1049C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1049					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.G1049C(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GTTCCAGTGCCTGGGCTCCTG	0.597																																							uc003ciq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(3145-3147)GGC>TGC		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						71.0	67.0	68.0					3																	38766748		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38766748C>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3145G>T	3.37:g.38766748C>A	ENSP00000390600:p.Gly1049Cys						p.G1049C	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	17	3145	-			1049					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3145G>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551004	0.27739	.	.	ENSG00000185313	ENST00000449082	D	0.95821	-3.82	4.59	1.65	0.23941	Sodium ion transport-associated (1);	3.110680	0.00738	N	0.000980	D	0.91737	0.7387	N	0.22421	0.69	0.09310	N	0.999995	B	0.06786	0.001	B	0.06405	0.002	T	0.81300	-0.0995	10	0.66056	D	0.02	.	8.4627	0.32938	0.1626:0.5221:0.3153:0.0	.	1049	Q9Y5Y9	SCNAA_HUMAN	C	1049	ENSP00000390600:G1049C	ENSP00000390600:G1049C	G	-	1	0	SCN10A	38741752	0.444000	0.25649	0.288000	0.24862	0.122000	0.20287	0.080000	0.14802	0.214000	0.20742	-0.273000	0.10243	GGC		0.597	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		7	39	1	0	5.4927e-09	0.004482	6.98423e-09	7	39				
EIF1B	10289	broad.mit.edu	37	3	40352459	40352459	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:40352459A>T	ENST00000232905.3	+	2	365	c.107A>T	c.(106-108)cAg>cTg	p.Q36L	ENTPD3-AS1_ENST00000439293.1_RNA	NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN	eukaryotic translation initiation factor 1B	36					regulation of translational initiation (GO:0006446)		poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.Q36L(1)		central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ATAAGAATCCAGCAACGGAAC	0.408																																							uc003ckc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(106-108)CAG>CTG		translation factor sui1 homolog							64.0	64.0	64.0					3																	40352459		2203	4300	6503	SO:0001583	missense	10289				regulation of translational initiation		protein binding|translation initiation factor activity	g.chr3:40352459A>T	BC006996	CCDS2690.1	3p22.1	2006-02-03			ENSG00000114784	ENSG00000114784			30792	protein-coding gene	gene with protein product						7904817	Standard	NM_005875		Approved	GC20	uc003ckc.3	O60739	OTTHUMG00000131388	ENST00000232905.3:c.107A>T	3.37:g.40352459A>T	ENSP00000232905:p.Gln36Leu					uc003ckb.2_5'Flank	p.Q36L	NM_005875	NP_005866	O60739	EIF1B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)	2	367	+			36					Q9UQF8	Missense_Mutation	SNP	ENST00000232905.3	37	c.107A>T	CCDS2690.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547817	0.86022	.	.	ENSG00000114784	ENST00000232905	T	0.34859	1.34	6.17	6.17	0.99709	Translation initiation factor SUI1 (3);	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	M	0.90814	3.15	0.80722	D	1	P	0.36144	0.539	B	0.38327	0.271	T	0.60367	-0.7277	10	0.87932	D	0	.	14.7743	0.69713	1.0:0.0:0.0:0.0	.	36	O60739	EIF1B_HUMAN	L	36	ENSP00000232905:Q36L	ENSP00000232905:Q36L	Q	+	2	0	EIF1B	40327463	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.300000	0.96151	2.371000	0.80710	0.533000	0.62120	CAG		0.408	EIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254177.1	NM_005875		13	78	0	0	0	0.00245	0	13	78				
TGM4	7047	broad.mit.edu	37	3	44943063	44943063	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:44943063G>T	ENST00000296125.4	+	7	773	c.705G>T	c.(703-705)ggG>ggT	p.G235G	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	235					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.G235G(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATTGGACTGGGGACTACGAAG	0.582																																							uc003coc.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(703-705)GGG>GGT		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						94.0	85.0	88.0					3																	44943063		2203	4300	6503	SO:0001819	synonymous_variant	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44943063G>T	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.705G>T	3.37:g.44943063G>T						TGM4_uc003cob.2_RNA	p.G235G	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	7	778	+			235					Q16707|Q96QN4	Silent	SNP	ENST00000296125.4	37	c.705G>T	CCDS2723.1																																																																																				0.582	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		4	31	1	0	0.000602214	0.000602	0.000649234	4	31				
COL7A1	1294	broad.mit.edu	37	3	48603953	48603953	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:48603953G>T	ENST00000328333.8	-	112	8455	c.8348C>A	c.(8347-8349)gCt>gAt	p.A2783D	UCN2_ENST00000273610.3_5'Flank|COL7A1_ENST00000454817.1_Missense_Mutation_p.A2751D|COL7A1_ENST00000470076.1_5'Flank	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2783	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A2783D(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGTCAGTGCAGCTTCTCCCTT	0.677																																							uc003ctz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(8347-8349)GCT>GAT		alpha 1 type VII collagen precursor							87.0	90.0	89.0					3																	48603953		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48603953G>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.8348C>A	3.37:g.48603953G>T	ENSP00000332371:p.Ala2783Asp					UCN2_uc003cty.1_5'Flank	p.A2783D	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	112	8349	-			2783			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.8348C>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	8.923	0.961557	0.18583	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94576	-3.46;-3.46	4.6	4.6	0.57074	.	0.166659	0.28284	N	0.015919	D	0.93294	0.7863	N	0.16656	0.425	0.34133	D	0.665461	D	0.63880	0.993	D	0.63192	0.912	D	0.94416	0.7636	10	0.34782	T	0.22	.	14.7232	0.69323	0.0:0.0:1.0:0.0	.	2783	Q02388	CO7A1_HUMAN	D	2783;2751	ENSP00000332371:A2783D;ENSP00000412569:A2751D	ENSP00000332371:A2783D	A	-	2	0	COL7A1	48578957	1.000000	0.71417	0.998000	0.56505	0.174000	0.22865	4.845000	0.62853	2.404000	0.81709	0.467000	0.42956	GCT		0.677	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		6	89	1	0	2.52707e-12	0.006214	3.46707e-12	6	89				
COL7A1	1294	broad.mit.edu	37	3	48613683	48613683	+	Splice_Site	SNP	G	G	T	rs149267939	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:48613683G>T	ENST00000328333.8	-	70	5926	c.5819C>A	c.(5818-5820)cCg>cAg	p.P1940Q	MIR711_ENST00000390201.1_RNA|COL7A1_ENST00000454817.1_Splice_Site_p.P1908Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1940	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P1940Q(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGGCTCACCGGCACACTTCC	0.597																																							uc003ctz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11	GRCh37	CD951668	COL7A1	D	rs149267939	c.(5818-5820)CCG>CAG		alpha 1 type VII collagen precursor							52.0	53.0	52.0					3																	48613683		2203	4300	6503	SO:0001630	splice_region_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48613683G>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5820+1C>A	3.37:g.48613683G>T							p.P1940Q	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	70	5820	-			1940			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.5819C>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	9.199	1.027923	0.19512	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.85088	-1.94;-1.74	4.83	-1.78	0.07957	.	1.411670	0.04820	N	0.436753	T	0.71221	0.3314	N	0.19112	0.55	0.09310	N	1	P	0.36249	0.545	B	0.36766	0.232	T	0.59193	-0.7500	10	0.33141	T	0.24	.	1.5244	0.02522	0.3188:0.2459:0.319:0.1163	.	1940	Q02388	CO7A1_HUMAN	Q	1940;1908	ENSP00000332371:P1940Q;ENSP00000412569:P1908Q	ENSP00000332371:P1940Q	P	-	2	0	COL7A1	48588687	0.000000	0.05858	0.003000	0.11579	0.083000	0.17756	-1.974000	0.01499	-0.625000	0.05604	0.655000	0.94253	CCG		0.597	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Missense_Mutation	6	49	1	0	3.59834e-05	0.001168	4.03688e-05	6	49				
BSN	8927	broad.mit.edu	37	3	49694957	49694957	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:49694957C>T	ENST00000296452.4	+	5	8082	c.7968C>T	c.(7966-7968)gcC>gcT	p.A2656A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2656					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.A2656A(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GTGCTGCTGCCACTGTGAGGG	0.637																																							uc003cxe.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(7966-7968)GCC>GCT		bassoon protein							44.0	46.0	46.0					3																	49694957		2203	4298	6501	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49694957C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7968C>T	3.37:g.49694957C>T							p.A2656A	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	8082	+			2656					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.7968C>T	CCDS2800.1																																																																																				0.637	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		10	26	0	0	0	0.001368	0	10	26				
GLYCTK	132158	broad.mit.edu	37	3	52324424	52324424	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:52324424G>T	ENST00000436784.2	+	2	126	c.66G>T	c.(64-66)cgG>cgT	p.R22R	GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000473032.1_Silent_p.R22R|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000305690.8_Silent_p.R22R|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000354773.4_Silent_p.R22R|GLYCTK_ENST00000477382.1_Silent_p.R22R			Q8IVS8	GLCTK_HUMAN	glycerate kinase	22					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)	p.R22R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		TCCTCTGGCGGGGCTCAGTGG	0.687																																							uc003ddo.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(64-66)CGG>CGT		glycerate kinase isoform 1							18.0	20.0	19.0					3																	52324424		2175	4255	6430	SO:0001819	synonymous_variant	132158				protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	g.chr3:52324424G>T		CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.66G>T	3.37:g.52324424G>T						GLYCTK_uc003ddq.2_Silent_p.R22R|GLYCTK_uc003ddm.2_Intron|GLYCTK_uc003ddn.2_RNA|GLYCTK_uc003ddp.1_Silent_p.R22R|GLYCTK_uc003ddr.2_5'Flank	p.R22R	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)	2	162	+			22					Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Silent	SNP	ENST00000436784.2	37	c.66G>T	CCDS2852.1																																																																																				0.687	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1	NM_145262		4	17	1	0	0.00198382	0.001984	0.00210086	4	17				
LRTM1	57408	broad.mit.edu	37	3	54958983	54958983	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:54958983C>A	ENST00000273286.5	-	2	429	c.267G>T	c.(265-267)ctG>ctT	p.L89L	CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Silent_p.L13L|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	89						integral component of membrane (GO:0016021)		p.L89L(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CTCCAGGGGCCAGATTTGAAA	0.443																																							uc003dhl.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(265-267)CTG>CTT		leucine-rich repeats and transmembrane domains 1							57.0	56.0	56.0					3																	54958983		2203	4300	6503	SO:0001819	synonymous_variant	57408					integral to membrane		g.chr3:54958983C>A	AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.267G>T	3.37:g.54958983C>A						CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	p.L89L	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)	2	401	-			89			Extracellular (Potential).|LRR 2.		Q8IUU2	Silent	SNP	ENST00000273286.5	37	c.267G>T	CCDS2876.1																																																																																				0.443	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351399.1	NM_020678		6	61	1	0	5.9392e-07	0.001168	7.07579e-07	6	61				
CNTN3	5067	broad.mit.edu	37	3	74420485	74420485	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:74420485C>T	ENST00000263665.6	-	5	547	c.520G>A	c.(520-522)Gtc>Atc	p.V174I		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	174	Ig-like C2-type 2.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V174I(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCCTGGGAGACAAATCTCCGA	0.418																																							uc003dpm.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(520-522)GTC>ATC		contactin 3 precursor							99.0	94.0	95.0					3																	74420485		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74420485C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.520G>A	3.37:g.74420485C>T	ENSP00000263665:p.Val174Ile						p.V174I	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	5	600	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	174			Ig-like C2-type 2.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.520G>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144684	0.37825	.	.	ENSG00000113805	ENST00000263665	T	0.75938	-0.98	5.81	4.94	0.65067	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.133758	0.52532	N	0.000070	T	0.60143	0.2246	N	0.13371	0.34	0.46260	D	0.998957	B	0.02656	0.0	B	0.22880	0.042	T	0.54423	-0.8296	10	0.30078	T	0.28	.	14.8945	0.70633	0.0:0.9314:0.0:0.0686	.	174	Q9P232	CNTN3_HUMAN	I	174	ENSP00000263665:V174I	ENSP00000263665:V174I	V	-	1	0	CNTN3	74503175	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.133000	0.31430	1.460000	0.47911	0.655000	0.94253	GTC		0.418	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		4	56	0	0	0	0.000602	0	4	56				
CNTN3	5067	broad.mit.edu	37	3	74535768	74535768	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:74535768C>A	ENST00000263665.6	-	3	224	c.197G>T	c.(196-198)gGa>gTa	p.G66V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	66	Ig-like C2-type 1.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G66V(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AATATCACTTCCATTCAGCTG	0.338																																							uc003dpm.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(196-198)GGA>GTA		contactin 3 precursor							103.0	100.0	101.0					3																	74535768		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74535768C>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.197G>T	3.37:g.74535768C>A	ENSP00000263665:p.Gly66Val						p.G66V	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	3	277	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	66			Ig-like C2-type 1.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.197G>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864518	0.71949	.	.	ENSG00000113805	ENST00000263665	T	0.57907	0.37	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82967	0.5152	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88514	0.3091	10	0.87932	D	0	.	17.6078	0.88044	0.0:1.0:0.0:0.0	.	66	Q9P232	CNTN3_HUMAN	V	66	ENSP00000263665:G66V	ENSP00000263665:G66V	G	-	2	0	CNTN3	74618458	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	5.100000	0.64560	2.763000	0.94921	0.585000	0.79938	GGA		0.338	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		13	71	1	0	0.000219431	0.00245	0.00024066	13	71				
EPHA3	2042	broad.mit.edu	37	3	89498500	89498500	+	Silent	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:89498500A>T	ENST00000336596.2	+	14	2697	c.2472A>T	c.(2470-2472)ccA>ccT	p.P824P	EPHA3_ENST00000494014.1_Silent_p.P824P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	824	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.P824P(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GAGAGAGACCATACTGGGAGA	0.438										TSP Lung(6;0.00050)																													uc003dqy.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(2470-2472)CCA>CCT		ephrin receptor EphA3 isoform a precursor							250.0	228.0	235.0					3																	89498500		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89498500A>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2472A>T	3.37:g.89498500A>T		TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.P824P	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	14	2697	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	824			Cytoplasmic (Potential).|Protein kinase.		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.2472A>T	CCDS2922.1																																																																																				0.438	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		25	193	0	0	0	0.005443	0	25	193				
OR5K2	402135	broad.mit.edu	37	3	98217148	98217148	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:98217148C>A	ENST00000427338.1	+	1	701	c.624C>A	c.(622-624)gtC>gtA	p.V208V	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V208V(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAGTTCAAGTCTTTACCATAG	0.378																																							uc011bgx.1		NA																	1	Substitution - coding silent(1)	p.V208I(1)	lung(1)	ovary(2)	2						c.(622-624)GTC>GTA		olfactory receptor, family 5, subfamily K,							184.0	180.0	181.0					3																	98217148		2203	4298	6501	SO:0001819	synonymous_variant	402135				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98217148C>A	AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"""GPCR / Class A : Olfactory receptors"""	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.624C>A	3.37:g.98217148C>A							p.V208V	NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN			1	624	+			208			Helical; Name=5; (Potential).		B2RN70|Q6IF47	Silent	SNP	ENST00000427338.1	37	c.624C>A	CCDS33804.1																																																																																				0.378	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2			34	178	1	0	2.81731e-10	0.002096	3.66455e-10	34	178				
KIAA1524	57650	broad.mit.edu	37	3	108278872	108278872	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:108278872T>G	ENST00000295746.8	-	15	1907	c.1831A>C	c.(1831-1833)Aag>Cag	p.K611Q	KIAA1524_ENST00000491772.1_Missense_Mutation_p.K452Q|KIAA1524_ENST00000487834.1_5'Flank	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	611					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K611Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATCTGATCCTTTACCTACATT	0.249																																							uc003dxb.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1831-1833)AAG>CAG		p90 autoantigen							71.0	69.0	70.0					3																	108278872		2195	4296	6491	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108278872T>G	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1831A>C	3.37:g.108278872T>G	ENSP00000295746:p.Lys611Gln						p.K611Q	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			15	2100	-			611					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.1831A>C	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930993	0.34096	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.04360	3.64;3.64	5.7	5.7	0.88788	.	0.091285	0.85682	D	0.000000	T	0.06005	0.0156	L	0.35414	1.06	0.43073	D	0.994713	B	0.22003	0.063	B	0.23150	0.044	T	0.38542	-0.9656	10	0.38643	T	0.18	-9.7653	15.971	0.80019	0.0:0.0:0.0:1.0	.	611	Q8TCG1	CIP2A_HUMAN	Q	452;611	ENSP00000419487:K452Q;ENSP00000295746:K611Q	ENSP00000295746:K611Q	K	-	1	0	KIAA1524	109761562	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	5.672000	0.68102	2.175000	0.68902	0.533000	0.62120	AAG		0.249	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		4	43	0	0	0	0.001168	0	4	43				
RETNLB	84666	broad.mit.edu	37	3	108474748	108474748	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:108474748C>A	ENST00000295755.6	-	3	411	c.213G>T	c.(211-213)atG>atT	p.M71I	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	71					cell proliferation (GO:0008283)	extracellular region (GO:0005576)		p.M71I(1)		endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CAGTGACAGCCATCCCTGCAT	0.552																																							uc003dxh.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(211-213)ATG>ATT		resistin like beta precursor							93.0	87.0	89.0					3																	108474748		2203	4300	6503	SO:0001583	missense	84666				cell proliferation	extracellular region	hormone activity	g.chr3:108474748C>A	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.213G>T	3.37:g.108474748C>A	ENSP00000295755:p.Met71Ile						p.M71I	NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN			3	311	-			71					Q14D27	Missense_Mutation	SNP	ENST00000295755.6	37	c.213G>T	CCDS2953.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287180	0.23478	.	.	ENSG00000163515	ENST00000295755	T	0.42131	0.98	3.7	-5.85	0.02311	.	1.356200	0.05180	N	0.501095	T	0.33177	0.0854	L	0.43923	1.385	0.09310	N	1	B	0.28820	0.224	B	0.31495	0.131	T	0.40831	-0.9542	10	0.52906	T	0.07	-1.0885	7.6247	0.28206	0.2956:0.4127:0.2917:0.0	.	71	Q9BQ08	RETNB_HUMAN	I	71	ENSP00000295755:M71I	ENSP00000295755:M71I	M	-	3	0	RETNLB	109957438	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-1.435000	0.02423	-1.393000	0.02079	0.561000	0.74099	ATG		0.552	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355093.1			13	64	1	0	7.01153e-11	0.007291	9.2203e-11	13	64				
ARHGAP31	57514	broad.mit.edu	37	3	119134833	119134833	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:119134833C>G	ENST00000264245.4	+	12	4589	c.4057C>G	c.(4057-4059)Cct>Gct	p.P1353A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1353					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.P1353A(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ATTCAGTCCTCCTTTCCCCAT	0.522																																					Pancreas(7;176 297 5394 51128 51241)	Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(4057-4059)CCT>GCT		Cdc42 GTPase-activating protein							117.0	118.0	118.0					3																	119134833		1941	4133	6074	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119134833C>G		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.4057C>G	3.37:g.119134833C>G	ENSP00000264245:p.Pro1353Ala						p.P1353A	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			12	4589	+			1353					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.4057C>G	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003335	0.74932	.	.	ENSG00000031081	ENST00000264245	T	0.57595	0.39	5.37	5.37	0.77165	.	0.000000	0.56097	D	0.000037	T	0.64875	0.2638	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67469	-0.5663	10	0.87932	D	0	.	18.4708	0.90774	0.0:1.0:0.0:0.0	.	1353	Q2M1Z3	RHG31_HUMAN	A	1353	ENSP00000264245:P1353A	ENSP00000264245:P1353A	P	+	1	0	ARHGAP31	120617523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.193000	0.77780	2.677000	0.91161	0.563000	0.77884	CCT		0.522	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			15	207	0	0	0	0.006122	0	15	207				
GSK3B	2932	broad.mit.edu	37	3	119720926	119720926	+	Silent	SNP	G	G	A	rs141817453		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:119720926G>A	ENST00000264235.8	-	2	1231	c.249C>T	c.(247-249)gcC>gcT	p.A83A	GSK3B_ENST00000316626.5_Silent_p.A83A	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	83	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)	p.A83A(2)		endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CTTTCTTGATGGCGACCAGTT	0.353													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16538	0.0		0.0	False		,,,				2504	0.0						uc003edo.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(2)	2						c.(247-249)GCC>GCT		glycogen synthase kinase 3 beta isoform 2	Lithium(DB01356)						191.0	178.0	182.0					3																	119720926		2203	4300	6503	SO:0001819	synonymous_variant	2932				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	g.chr3:119720926G>A	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.249C>T	3.37:g.119720926G>A						GSK3B_uc003edn.2_Silent_p.A83A	p.A83A	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	2	1232	-			83			Protein kinase.		D3DN89|Q9BWH3|Q9UL47	Silent	SNP	ENST00000264235.8	37	c.249C>T	CCDS54628.1																																																																																				0.353	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2			61	208	0	0	0	0.00361	0	61	208				
LRRC58	116064	broad.mit.edu	37	3	120050100	120050100	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:120050100C>G	ENST00000295628.3	-	4	1158	c.1063G>C	c.(1063-1065)Gaa>Caa	p.E355Q		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	355								p.E355Q(1)		large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		GCTTCATCTTCTGAGTCAGAT	0.458																																							uc003edr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1063-1065)GAA>CAA		leucine rich repeat containing 58							80.0	81.0	81.0					3																	120050100		1951	4151	6102	SO:0001583	missense	116064							g.chr3:120050100C>G	BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.1063G>C	3.37:g.120050100C>G	ENSP00000295628:p.Glu355Gln						p.E355Q	NM_001099678	NP_001093148	Q96CX6	LRC58_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	4	1159	-			355						Missense_Mutation	SNP	ENST00000295628.3	37	c.1063G>C	CCDS46892.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022413	0.93462	.	.	ENSG00000163428	ENST00000295628	T	0.50277	0.75	5.61	5.61	0.85477	.	0.046657	0.85682	D	0.000000	T	0.66426	0.2788	M	0.76574	2.34	0.80722	D	1	D	0.71674	0.998	P	0.59761	0.863	T	0.66118	-0.6003	10	0.44086	T	0.13	-9.9323	18.612	0.91288	0.0:1.0:0.0:0.0	.	355	Q96CX6	LRC58_HUMAN	Q	355	ENSP00000295628:E355Q	ENSP00000295628:E355Q	E	-	1	0	LRRC58	121532790	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	7.633000	0.83260	2.638000	0.89438	0.655000	0.94253	GAA		0.458	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355142.1	XM_057296		3	88	0	0	0	0.009096	0	3	88				
HGD	3081	broad.mit.edu	37	3	120389380	120389380	+	Splice_Site	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:120389380C>T	ENST00000283871.5	-	4	636		c.e4-1		HGD_ENST00000488183.1_Splice_Site	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase						cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)	p.?(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ATACAGCCAGCTAGAGGGAAA	0.438																																							uc003edw.2		NA																	1	Unknown(1)		lung(1)		0						c.e4-1		homogentisate 1,2-dioxygenase							103.0	105.0	104.0					3																	120389380		2203	4296	6499	SO:0001630	splice_region_variant	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120389380C>T		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.177-1G>A	3.37:g.120389380C>T							p.S59_splice	NM_000187	NP_000178	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	4	547	-								A8K417|B2R8Z0	Splice_Site	SNP	ENST00000283871.5	37	c.177_splice	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.910063	0.72983	.	.	ENSG00000113924	ENST00000283871;ENST00000476082	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1221	0.89574	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HGD	121872070	1.000000	0.71417	0.997000	0.53966	0.759000	0.43091	6.498000	0.73679	2.871000	0.98454	0.655000	0.94253	.		0.438	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1		Intron	8	96	0	0	0	0.004482	0	8	96				
PARP9	83666	broad.mit.edu	37	3	122264292	122264292	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:122264292C>G	ENST00000360356.2	-	7	1703	c.1476G>C	c.(1474-1476)ttG>ttC	p.L492F	PARP9_ENST00000462315.1_Missense_Mutation_p.L457F|PARP9_ENST00000492382.1_Missense_Mutation_p.L37F|PARP9_ENST00000477522.2_Missense_Mutation_p.L457F|PARP9_ENST00000471785.1_Missense_Mutation_p.L457F	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	492					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L492F(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TGTAATTGTTCAAACTCAGCA	0.443																																							uc010hri.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|prostate(1)|skin(1)	4						c.(1474-1476)TTG>TTC		poly (ADP-ribose) polymerase family, member 9							200.0	179.0	186.0					3																	122264292		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122264292C>G	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1476G>C	3.37:g.122264292C>G	ENSP00000353512:p.Leu492Phe					PARP9_uc003eff.3_Missense_Mutation_p.L457F|PARP9_uc011bjs.1_Missense_Mutation_p.L457F|PARP9_uc003efg.2_Missense_Mutation_p.L37F|PARP9_uc003efi.2_Missense_Mutation_p.L457F|PARP9_uc003efh.2_Missense_Mutation_p.L492F|PARP9_uc003efj.2_Missense_Mutation_p.L457F	p.L492F	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	7	1621	-			492					A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.1476G>C	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	0.067	-1.211615	0.01555	.	.	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T;T	0.25250	1.81;2.83;1.81;1.81;1.81	4.13	0.408	0.16377	.	1.338140	0.05202	N	0.505158	T	0.23370	0.0565	L	0.60455	1.87	0.09310	N	1	B;B;B;B	0.17667	0.013;0.006;0.023;0.023	B;B;B;B	0.18871	0.005;0.004;0.023;0.021	T	0.27123	-1.0083	10	0.21014	T	0.42	.	3.9317	0.09288	0.3114:0.1917:0.4969:0.0	.	457;492;37;457	E9PFM7;Q8IXQ6;G5E9U8;Q8IXQ6-2	.;PARP9_HUMAN;.;.	F	492;37;457;457;415;457	ENSP00000353512:L492F;ENSP00000417664:L37F;ENSP00000419506:L457F;ENSP00000419001:L457F;ENSP00000418894:L457F	ENSP00000353512:L492F	L	-	3	2	PARP9	123746982	0.018000	0.18449	0.000000	0.03702	0.000000	0.00434	0.494000	0.22467	0.057000	0.16193	-0.867000	0.03001	TTG		0.443	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		16	144	0	0	0	0.00499	0	16	144				
CCDC14	64770	broad.mit.edu	37	3	123633788	123633788	+	Silent	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:123633788A>G	ENST00000488653.2	-	13	2790	c.2700T>C	c.(2698-2700)gaT>gaC	p.D900D	CCDC14_ENST00000433542.2_Silent_p.D859D|CCDC14_ENST00000489746.1_Silent_p.D700D|CCDC14_ENST00000485727.1_Silent_p.D700D|CCDC14_ENST00000310351.4_Silent_p.D740D|CCDC14_ENST00000483247.1_5'UTR			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	900					substantia nigra development (GO:0021762)	centrosome (GO:0005813)		p.D740D(1)|p.D859D(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AAACACTACCATCACAGACAG	0.478																																							uc011bjx.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(2698-2700)GAT>GAC		coiled-coil domain containing 14							124.0	111.0	115.0					3																	123633788		2203	4300	6503	SO:0001819	synonymous_variant	64770					centrosome		g.chr3:123633788A>G	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.2700T>C	3.37:g.123633788A>G						CCDC14_uc003egv.3_Silent_p.D541D|CCDC14_uc003egx.3_Silent_p.D700D|CCDC14_uc010hrt.2_Silent_p.D859D|CCDC14_uc003egy.3_Silent_p.D700D|CCDC14_uc003egz.2_3'UTR	p.D900D	NM_022757	NP_073594	Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	13	2791	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	900					B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Silent	SNP	ENST00000488653.2	37	c.2700T>C																																																																																					0.478	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		5	36	0	0	0	0.001168	0	5	36				
ISY1	57461	broad.mit.edu	37	3	128849008	128849008	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:128849008C>T	ENST00000393295.3	-	11	1091	c.774G>A	c.(772-774)agG>agA	p.R258R	ISY1_ENST00000393292.3_3'UTR|ISY1-RAB43_ENST00000418265.1_Silent_p.R258R|ISY1_ENST00000273541.8_Silent_p.R280R|ISY1_ENST00000471497.1_5'UTR	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	258					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)	p.R258R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						CCATTTTCTTCCTTCGCACCA	0.567																																							uc003elo.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(772-774)AGG>AGA		ISY1 splicing factor homolog							107.0	109.0	109.0					3																	128849008		1938	4143	6081	SO:0001819	synonymous_variant	339122				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr3:128849008C>T		CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 33"""	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.774G>A	3.37:g.128849008C>T						ISY1_uc010hsz.1_Silent_p.R78R|ISY1_uc003elp.1_Silent_p.R258R|ISY1_uc010hta.1_Silent_p.R280R	p.R258R	NM_020701	NP_065752	Q86YS6	RAB43_HUMAN			11	985	-			Error:Variant_position_missing_in_Q86YS6_after_alignment					Q96IL2|Q9BT05	Silent	SNP	ENST00000393295.3	37	c.774G>A	CCDS43149.1																																																																																				0.567	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701		15	120	0	0	0	0.006122	0	15	120				
CPNE4	131034	broad.mit.edu	37	3	131418774	131418774	+	Silent	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:131418774T>G	ENST00000512055.1	-	8	2537	c.411A>C	c.(409-411)acA>acC	p.T137T	CPNE4_ENST00000512332.1_Silent_p.T155T|CPNE4_ENST00000511604.1_Silent_p.T137T|CPNE4_ENST00000429747.1_Silent_p.T137T|CPNE4_ENST00000502818.1_Silent_p.T155T			Q96A23	CPNE4_HUMAN	copine IV	137						extracellular vesicular exosome (GO:0070062)		p.T137T(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ATTTCCCTGCTGTGTTCCCAT	0.493																																							uc003eok.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(409-411)ACA>ACC		copine IV							78.0	69.0	72.0					3																	131418774		2203	4300	6503	SO:0001819	synonymous_variant	131034							g.chr3:131418774T>G	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.411A>C	3.37:g.131418774T>G						CPNE4_uc011blq.1_Silent_p.T155T|CPNE4_uc003eol.2_Silent_p.T155T|CPNE4_uc003eom.2_Silent_p.T137T	p.T137T	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN			4	846	-			137					D3DNC5|Q8TEX1	Silent	SNP	ENST00000512055.1	37	c.411A>C	CCDS3072.1																																																																																				0.493	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		27	43	0	0	0	0.009535	0	27	43				
PRR23B	389151	broad.mit.edu	37	3	138738769	138738769	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:138738769G>T	ENST00000329447.5	-	1	999	c.735C>A	c.(733-735)caC>caA	p.H245Q	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	245	Pro-rich.							p.H245Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGAGCGCGCGTGGGGACCTG	0.667																																							uc003esy.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(733-735)CAC>CAA		proline rich 23B							17.0	20.0	19.0					3																	138738769		2194	4286	6480	SO:0001583	missense	389151							g.chr3:138738769G>T	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.735C>A	3.37:g.138738769G>T	ENSP00000328768:p.His245Gln						p.H245Q	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	1000	-			245			Pro-rich.		B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.735C>A	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	4.740	0.137595	0.09032	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.63	-7.26	0.01466	.	1.019590	0.07861	N	0.966415	T	0.17662	0.0424	L	0.36672	1.1	0.09310	N	1	B	0.30236	0.274	B	0.28011	0.085	T	0.12915	-1.0529	9	0.15499	T	0.54	.	0.3829	0.00398	0.3228:0.2149:0.1244:0.3379	.	245	Q6ZRT6	PR23B_HUMAN	Q	245	.	ENSP00000328768:H245Q	H	-	3	2	PRR23B	140221459	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-3.648000	0.00404	-3.333000	0.00185	-0.119000	0.15052	CAC		0.667	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		9	45	1	0	0.00621372	0.006214	0.00651623	9	45				
RBP2	5948	broad.mit.edu	37	3	139181102	139181102	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:139181102A>T	ENST00000232217.2	-	2	160	c.104T>A	c.(103-105)gTa>gAa	p.V35E	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	35					epidermis development (GO:0008544)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.V35E(1)		breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	AGTGAGACGTACTGCAATCTT	0.428																																							uc003eth.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(103-105)GTA>GAA		retinol binding protein 2, cellular	Vitamin A(DB00162)						208.0	176.0	187.0					3																	139181102		2203	4300	6503	SO:0001583	missense	5948				epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity	g.chr3:139181102A>T	U13831	CCDS3109.1	3q23	2013-03-01	2001-11-28		ENSG00000114113	ENSG00000114113		"""Fatty acid binding protein family"""	9920	protein-coding gene	gene with protein product		180280	"""retinol-binding protein 2, cellular"""			7657783, 10072590	Standard	NM_004164		Approved	CRBP2, RBPC2, CRBPII, CRABP-II	uc003eth.3	P50120	OTTHUMG00000159956	ENST00000232217.2:c.104T>A	3.37:g.139181102A>T	ENSP00000232217:p.Val35Glu						p.V35E	NM_004164	NP_004155	P50120	RET2_HUMAN			2	155	-			35					A8K7G3|Q6ISQ9|Q6ISS7	Missense_Mutation	SNP	ENST00000232217.2	37	c.104T>A	CCDS3109.1	.	.	.	.	.	.	.	.	.	.	A	0.025	-1.379167	0.01204	.	.	ENSG00000114113	ENST00000232217;ENST00000511956	T;T	0.05580	3.42;3.42	5.9	1.66	0.24008	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.387400	0.04161	N	0.323019	T	0.07188	0.0182	L	0.52573	1.65	0.09310	N	1	B	0.23377	0.084	B	0.30495	0.116	T	0.46034	-0.9220	10	0.02654	T	1	.	4.8376	0.13473	0.5292:0.0:0.1529:0.3179	.	35	P50120	RET2_HUMAN	E	35	ENSP00000232217:V35E;ENSP00000424333:V35E	ENSP00000232217:V35E	V	-	2	0	RBP2	140663792	0.000000	0.05858	0.002000	0.10522	0.572000	0.35998	0.471000	0.22100	0.471000	0.27319	-0.297000	0.09499	GTA		0.428	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358490.1	NM_004164		39	168	0	0	0	0.007835	0	39	168				
ATR	545	broad.mit.edu	37	3	142253921	142253921	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:142253921C>A	ENST00000350721.4	-	21	4067		c.e21+1		ATR_ENST00000383101.3_Splice_Site	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TATTAGCATACCTGATTTTTA	0.313								Other conserved DNA damage response genes																															uc003eux.3		NA																	1	Unknown(1)		lung(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.e21+1	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							46.0	48.0	47.0					3																	142253921		2203	4299	6502	SO:0001630	splice_region_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142253921C>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3945+1G>T	3.37:g.142253921C>A							p.Q1315_splice	NM_001184	NP_001175	Q13535	ATR_HUMAN			21	4067	-								Q59HB2|Q7KYL3|Q93051|Q9BXK4	Splice_Site	SNP	ENST00000350721.4	37	c.3945_splice	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683402	0.88542	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.808	0.96537	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATR	143736611	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.129000	0.77225	2.671000	0.90904	0.655000	0.94253	.		0.313	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	Intron	15	32	1	0	7.81268e-19	0.00499	1.1719e-18	15	32				
PLOD2	5352	broad.mit.edu	37	3	145806427	145806427	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:145806427T>C	ENST00000360060.3	-	9	1128	c.951A>G	c.(949-951)atA>atG	p.I317M	PLOD2_ENST00000461497.1_5'Flank|PLOD2_ENST00000494950.1_Missense_Mutation_p.I262M|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000282903.5_Missense_Mutation_p.I317M	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	317					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.I317M(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	GTGTCAACAATATGTCCAGAA	0.308																																							uc003evs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(949-951)ATA>ATG		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Vitamin C(DB00126)						84.0	79.0	81.0					3																	145806427		2202	4298	6500	SO:0001583	missense	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	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-lysine 5-dioxygenase activity|protein binding	g.chr3:145806427T>C	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.951A>G	3.37:g.145806427T>C	ENSP00000353170:p.Ile317Met					PLOD2_uc003evq.1_5'Flank|PLOD2_uc011bnm.1_Missense_Mutation_p.I262M|PLOD2_uc003evr.1_Missense_Mutation_p.I317M	p.I317M	NM_000935	NP_000926	O00469	PLOD2_HUMAN			9	1457	-			317					B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.951A>G	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	T	6.475	0.455790	0.12283	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950	D;D;D	0.84800	-1.9;-1.9;-1.9	5.33	-1.01	0.10169	.	0.642466	0.15945	N	0.237002	T	0.65923	0.2738	N	0.08118	0	0.09310	N	1	B;B;B	0.15141	0.01;0.012;0.01	B;B;B	0.21546	0.017;0.035;0.01	T	0.54622	-0.8266	10	0.36615	T	0.2	-37.7684	5.6537	0.17631	0.1152:0.2595:0.0:0.6252	.	262;317;317	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	M	317;317;262	ENSP00000282903:I317M;ENSP00000353170:I317M;ENSP00000420094:I262M	ENSP00000282903:I317M	I	-	3	3	PLOD2	147289117	0.000000	0.05858	0.000000	0.03702	0.216000	0.24613	-0.103000	0.10940	0.034000	0.15491	-0.309000	0.09137	ATA		0.308	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		13	16	0	0	0	0.001855	0	13	16				
MED12L	116931	broad.mit.edu	37	3	151148114	151148114	+	Missense_Mutation	SNP	C	C	G	rs147600909		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:151148114C>G	ENST00000474524.1	+	42	6369	c.6331C>G	c.(6331-6333)Cag>Gag	p.Q2111E	MED12L_ENST00000273432.4_Missense_Mutation_p.Q1775E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2111	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCA	0.532																																							uc003eyp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(6331-6333)CAG>GAG		mediator of RNA polymerase II transcription,							60.0	59.0	59.0					3																	151148114		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151148114C>G	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6331C>G	3.37:g.151148114C>G	ENSP00000417235:p.Gln2111Glu					MED12L_uc011bnz.1_Missense_Mutation_p.Q1775E	p.Q2111E	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		42	6369	+			2111			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.6331C>G	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546566	0.65198	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.62232	0.19;0.04	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.66519	0.2797	L	0.29908	0.895	0.80722	D	1	P;P	0.43578	0.811;0.713	P;P	0.54924	0.764;0.585	T	0.69907	-0.5018	10	0.66056	D	0.02	-13.1991	17.2954	0.87169	0.0:1.0:0.0:0.0	.	1775;2111	F8WAE6;Q86YW9	.;MD12L_HUMAN	E	2111;1775	ENSP00000417235:Q2111E;ENSP00000273432:Q1775E	ENSP00000273432:Q1775E	Q	+	1	0	MED12L	152630804	0.999000	0.42202	0.998000	0.56505	0.999000	0.98932	5.238000	0.65366	2.383000	0.81215	0.650000	0.86243	CAG		0.532	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		8	80	0	0	0	0.000978	0	8	80				
NMD3	51068	broad.mit.edu	37	3	160951236	160951236	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:160951236G>T	ENST00000460469.1	+	4	781	c.326G>T	c.(325-327)aGa>aTa	p.R109I	NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Missense_Mutation_p.R109I|NMD3_ENST00000351193.2_Missense_Mutation_p.R109I			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	109					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)	p.R109I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CATTCTAAGAGACTTAAAGTT	0.378																																							uc003feb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(325-327)AGA>ATA		NMD3 homolog							125.0	118.0	120.0					3																	160951236		2203	4300	6503	SO:0001583	missense	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160951236G>T	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.326G>T	3.37:g.160951236G>T	ENSP00000419004:p.Arg109Ile					NMD3_uc003fec.2_Missense_Mutation_p.R109I|NMD3_uc003fed.1_Missense_Mutation_p.R109I|NMD3_uc010hwh.2_5'Flank	p.R109I	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		5	445	+			109					D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	ENST00000460469.1	37	c.326G>T	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102005	0.94245	.	.	ENSG00000169251	ENST00000460503;ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469	T;T;T;T;T;T;T	0.62232	0.17;0.32;0.1;0.04;0.32;0.24;0.1	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.86439	0.5933	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91137	0.4942	9	.	.	.	-18.309	17.7485	0.88427	0.0:0.0:1.0:0.0	.	109;109	C9JA08;Q96D46	.;NMD3_HUMAN	I	109	ENSP00000418980:R109I;ENSP00000419030:R109I;ENSP00000307525:R109I;ENSP00000417559:R109I;ENSP00000418908:R109I;ENSP00000419647:R109I;ENSP00000419004:R109I	.	R	+	2	0	NMD3	162433930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.986000	0.93492	2.499000	0.84300	0.591000	0.81541	AGA		0.378	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		13	33	1	0	5.50884e-06	0.001368	6.33193e-06	13	33				
SERPINI2	5276	broad.mit.edu	37	3	167183440	167183440	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:167183440G>A	ENST00000476257.1	-	5	798	c.500C>T	c.(499-501)tCa>tTa	p.S167L	SERPINI2_ENST00000471111.1_Missense_Mutation_p.S167L|SERPINI2_ENST00000264677.4_Missense_Mutation_p.S167L|SERPINI2_ENST00000461846.1_Missense_Mutation_p.S167L			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	167					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S167L(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TTCTTCCCCTGAAAACATGTC	0.403																																							uc003fer.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|urinary_tract(1)	3						c.(499-501)TCA>TTA		serpin peptidase inhibitor, clade I (pancpin),							43.0	44.0	43.0					3																	167183440		2199	4298	6497	SO:0001583	missense	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167183440G>A	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.500C>T	3.37:g.167183440G>A	ENSP00000420621:p.Ser167Leu					SERPINI2_uc003fes.1_Missense_Mutation_p.S177L|SERPINI2_uc003fet.1_Missense_Mutation_p.S167L	p.S167L	NM_006217	NP_006208	O75830	SPI2_HUMAN			3	558	-			167						Missense_Mutation	SNP	ENST00000476257.1	37	c.500C>T	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925915	0.92319	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903;ENST00000467583	D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.74	5.74	0.90152	Serpin domain (3);	0.307850	0.31859	N	0.006944	D	0.92561	0.7637	M	0.91612	3.225	0.40385	D	0.979482	D;D	0.54047	0.964;0.964	P;P	0.55055	0.767;0.767	D	0.93982	0.7259	10	0.66056	D	0.02	.	17.4314	0.87540	0.0:0.0:1.0:0.0	.	167;167	B4DDY9;O75830	.;SPI2_HUMAN	L	167;167;167;167;167;152	ENSP00000420621:S167L;ENSP00000417692:S167L;ENSP00000264677:S167L;ENSP00000419407:S167L;ENSP00000417752:S167L;ENSP00000419255:S152L	ENSP00000264677:S167L	S	-	2	0	SERPINI2	168666134	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	5.674000	0.68117	2.719000	0.93026	0.655000	0.94253	TCA		0.403	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		4	52	0	0	0	0.001984	0	4	52				
POLR2H	5437	broad.mit.edu	37	3	184082795	184082795	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:184082795C>G	ENST00000456318.1	+	3	1164	c.115C>G	c.(115-117)Cta>Gta	p.L39V	POLR2H_ENST00000430783.1_Missense_Mutation_p.L39V|POLR2H_ENST00000438240.1_Missense_Mutation_p.L3V|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000429568.1_Missense_Mutation_p.L39V|POLR2H_ENST00000452961.1_Missense_Mutation_p.L3V|POLR2H_ENST00000296223.3_Missense_Mutation_p.L39V|POLR2H_ENST00000443489.1_Missense_Mutation_p.L3V	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	39	Non-specific ssDNA binding.				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.L39V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAAGATGGATCTAATCTTAGA	0.398																																							uc003fok.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(115-117)CTA>GTA		RNA polymerase II, polypeptide H							118.0	109.0	112.0					3																	184082795		2203	4300	6503	SO:0001583	missense	5437				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr3:184082795C>G		CCDS3264.1, CCDS63861.1, CCDS63862.1, CCDS63859.1, CCDS63860.1	3q28	2013-01-21			ENSG00000163882	ENSG00000163882		"""RNA polymerase subunits"""	9195	protein-coding gene	gene with protein product		606023					Standard	NM_001278698		Approved	RPB8	uc003fok.2	P52434	OTTHUMG00000156746	ENST00000456318.1:c.115C>G	3.37:g.184082795C>G	ENSP00000392913:p.Leu39Val					POLR2H_uc003foj.1_RNA	p.L39V	NM_006232	NP_006223	P52434	RPAB3_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	202	+	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		39					C9J413|C9JBJ6|C9JCU7|C9JUA8|P53802|Q969R0	Missense_Mutation	SNP	ENST00000456318.1	37	c.115C>G	CCDS3264.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022941	0.75275	.	.	ENSG00000163882	ENST00000456318;ENST00000438240;ENST00000455712;ENST00000430783;ENST00000443489;ENST00000452961;ENST00000296223;ENST00000429568	.	.	.	5.85	4.97	0.65823	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.77785	0.4182	M	0.86178	2.8	0.80722	D	1	D	0.63880	0.993	D	0.71870	0.975	T	0.78076	-0.2345	9	0.45353	T	0.12	-12.8572	9.5468	0.39286	0.0:0.8408:0.0:0.1592	.	39	P52434	RPAB3_HUMAN	V	39;3;39;39;3;3;39;39	.	ENSP00000296223:L39V	L	+	1	2	POLR2H	185565489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.659000	0.54489	2.761000	0.94854	0.655000	0.94253	CTA		0.398	POLR2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345558.1	NM_006232		13	80	0	0	0	0.00245	0	13	80				
RNF212	285498	broad.mit.edu	37	4	1073450	1073450	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:1073450G>C	ENST00000433731.2	-	8	552	c.491C>G	c.(490-492)tCt>tGt	p.S164C	RNF212_ENST00000382968.5_Missense_Mutation_p.S164C			Q495C1	RN212_HUMAN	ring finger protein 212	164					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S164C(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CGGAGAAGGAGAGAGATCAAC	0.433																																							uc003gcj.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(490-492)TCT>TGT		ring finger protein 212 isoform a							193.0	170.0	178.0					4																	1073450		2203	4300	6503	SO:0001583	missense	285498						zinc ion binding	g.chr4:1073450G>C	AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.491C>G	4.37:g.1073450G>C	ENSP00000389709:p.Ser164Cys					RNF212_uc003gch.2_Missense_Mutation_p.S6C|RNF212_uc003gci.2_Missense_Mutation_p.S164C|RNF212_uc010ibp.2_Intron|RNF212_uc010ibq.2_Intron	p.S164C	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)	8	821	-			164					C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Missense_Mutation	SNP	ENST00000433731.2	37	c.491C>G	CCDS46996.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.549495	0.45383	.	.	ENSG00000178222	ENST00000382968;ENST00000433731	T	0.51574	0.7	3.66	2.81	0.32909	.	.	.	.	.	T	0.43144	0.1234	N	0.22421	0.69	0.29344	N	0.865823	D;D;D	0.69078	0.997;0.99;0.99	P;P;P	0.54460	0.753;0.634;0.634	T	0.33111	-0.9881	9	0.66056	D	0.02	-0.9135	7.171	0.25719	0.127:0.0:0.873:0.0	.	164;164;164	Q495C1;Q495C1-5;Q495C1-3	RN212_HUMAN;.;.	C	164	ENSP00000389709:S164C	ENSP00000372428:S164C	S	-	2	0	RNF212	1063450	0.001000	0.12720	0.015000	0.15790	0.101000	0.19017	0.260000	0.18424	0.856000	0.35383	0.651000	0.88453	TCT		0.433	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359124.2	NM_194439		17	88	0	0	0	0.006122	0	17	88				
EVC2	132884	broad.mit.edu	37	4	5624341	5624341	+	Missense_Mutation	SNP	C	C	G	rs541956407		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:5624341C>G	ENST00000344408.5	-	14	2477	c.2424G>C	c.(2422-2424)caG>caC	p.Q808H	EVC2_ENST00000310917.2_Missense_Mutation_p.Q728H|EVC2_ENST00000344938.1_Missense_Mutation_p.Q808H	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	808					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Q808H(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCTTCAGTCTCTGCCTCACGC	0.632																																							uc003gij.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)	5						c.(2422-2424)CAG>CAC		limbin							88.0	55.0	66.0					4																	5624341		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5624341C>G	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2424G>C	4.37:g.5624341C>G	ENSP00000342144:p.Gln808His					EVC2_uc011bwb.1_Missense_Mutation_p.Q248H|EVC2_uc003gik.2_Missense_Mutation_p.Q728H	p.Q808H	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			14	2478	-			808					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.2424G>C	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847145	0.51164	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.75704	-0.96;-0.95;-0.96	5.44	4.4	0.53042	.	0.000000	0.64402	D	0.000001	T	0.75406	0.3845	L	0.59436	1.845	0.29120	N	0.880324	D	0.67145	0.996	P	0.52710	0.707	T	0.72453	-0.4289	10	0.56958	D	0.05	-26.2662	8.4091	0.32634	0.0:0.7161:0.151:0.1329	.	808	Q86UK5	LBN_HUMAN	H	808;728;808	ENSP00000339954:Q808H;ENSP00000311683:Q728H;ENSP00000342144:Q808H	ENSP00000311683:Q728H	Q	-	3	2	EVC2	5675242	0.997000	0.39634	1.000000	0.80357	0.651000	0.38670	0.264000	0.18497	2.549000	0.85964	0.462000	0.41574	CAG		0.632	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		5	37	0	0	0	0.000602	0	5	37				
PPP2R2C	5522	broad.mit.edu	37	4	6349667	6349667	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:6349667C>T	ENST00000382599.4	-	6	912	c.696G>A	c.(694-696)ccG>ccA	p.P232P	PPP2R2C_ENST00000506140.1_Silent_p.P225P|PPP2R2C_ENST00000507294.1_Silent_p.P225P|PPP2R2C_ENST00000515571.1_Silent_p.P215P|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000335585.5_Silent_p.P232P			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	232					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.P232P(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TGCAGTGGTGCGGATGGAACT	0.597																																							uc003gjc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(694-696)CCG>CCA		gamma isoform of regulatory subunit B55, protein							243.0	172.0	196.0					4																	6349667		2203	4300	6503	SO:0001819	synonymous_variant	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6349667C>T	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.696G>A	4.37:g.6349667C>T						PPP2R2C_uc003gjb.2_Silent_p.P215P|PPP2R2C_uc011bwd.1_Silent_p.P225P|PPP2R2C_uc011bwe.1_Silent_p.P225P|PPP2R2C_uc003gja.2_Silent_p.P232P|PPP2R2C_uc003gjd.1_Silent_p.P320P	p.P232P	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN			6	1066	-			232			WD 4.		A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Silent	SNP	ENST00000382599.4	37	c.696G>A																																																																																					0.597	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		13	47	0	0	0	0.003163	0	13	47				
CLNK	116449	broad.mit.edu	37	4	10502976	10502976	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:10502976C>A	ENST00000226951.6	-	18	1283	c.1044G>T	c.(1042-1044)ttG>ttT	p.L348F	CLNK_ENST00000515667.1_Missense_Mutation_p.L86F	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	348	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)	p.L348F(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AAAACACAGCCAAAACATAGG	0.448																																					GBM(87;402 1286 6949 13902 35851)	GBM(87;402 1286 6949 13902 35851)	uc003gmo.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1042-1044)TTG>TTT		mast cell immunoreceptor signal transducer							88.0	80.0	83.0					4																	10502976		1869	4101	5970	SO:0001583	missense	116449				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	g.chr4:10502976C>A	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.1044G>T	4.37:g.10502976C>A	ENSP00000226951:p.Leu348Phe						p.L348F	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN			18	1181	-			348			SH2.		Q05C27|Q9P2U9	Missense_Mutation	SNP	ENST00000226951.6	37	c.1044G>T	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629563	0.46944	.	.	ENSG00000109684	ENST00000226951;ENST00000515667;ENST00000429087	D;D	0.81499	-1.5;-1.5	5.39	4.55	0.56014	SH2 motif (4);	0.000000	0.56097	D	0.000031	D	0.91788	0.7402	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93150	0.6549	10	0.87932	D	0	-12.1243	12.0696	0.53609	0.0:0.916:0.0:0.084	.	348	Q7Z7G1	CLNK_HUMAN	F	348;86;312	ENSP00000226951:L348F;ENSP00000427256:L86F	ENSP00000226951:L348F	L	-	3	2	CLNK	10112074	1.000000	0.71417	0.996000	0.52242	0.066000	0.16364	4.809000	0.62591	1.266000	0.44231	-0.157000	0.13467	TTG		0.448	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964		3	26	1	0	0.004672	0.004672	0.00490423	3	26				
GPR125	166647	broad.mit.edu	37	4	22390301	22390301	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:22390301C>A	ENST00000334304.5	-	19	3262	c.2993G>T	c.(2992-2994)gGg>gTg	p.G998V	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	998					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.G998V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AAGGCTGGCCCCCAAGAGCTG	0.398																																							uc003gqm.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2992-2994)GGG>GTG		G protein-coupled receptor 125 precursor							95.0	99.0	98.0					4																	22390301		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390301C>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2993G>T	4.37:g.22390301C>A	ENSP00000334952:p.Gly998Val					GPR125_uc010ieo.1_Missense_Mutation_p.G854V|GPR125_uc003gql.1_Missense_Mutation_p.G125V	p.G998V	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			19	3258	-		Breast(46;0.198)	998			Helical; Name=6; (Potential).		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2993G>T	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993912	0.54041	.	.	ENSG00000152990	ENST00000334304	T	0.41065	1.01	5.94	5.1	0.69264	GPCR, family 2-like (1);	0.047096	0.85682	D	0.000000	T	0.54159	0.1841	L	0.41236	1.265	0.80722	D	1	B;D	0.71674	0.097;0.998	B;D	0.65233	0.061;0.933	T	0.57665	-0.7772	10	0.72032	D	0.01	-29.8368	15.0906	0.72192	0.0:0.9323:0.0:0.0677	.	855;998	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	V	998	ENSP00000334952:G998V	ENSP00000334952:G998V	G	-	2	0	GPR125	21999399	1.000000	0.71417	0.995000	0.50966	0.794000	0.44872	4.504000	0.60414	1.519000	0.48950	0.650000	0.86243	GGG		0.398	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			10	46	1	0	5.50884e-06	0.001368	6.33193e-06	10	46				
GABRG1	2565	broad.mit.edu	37	4	46060556	46060556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:46060556G>A	ENST00000295452.4	-	6	876	c.709C>T	c.(709-711)Cag>Tag	p.Q237*		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	237					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Q237E(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	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)|Ketazolam(DB01587)|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)	AATGCAAACTGATATAATCTC	0.353																																							uc003gxb.2		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(709-711)CAG>TAG		gamma-aminobutyric acid A receptor, gamma 1							89.0	86.0	87.0					4																	46060556		2203	4300	6503	SO:0001587	stop_gained	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060556G>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.709C>T	4.37:g.46060556G>A	ENSP00000295452:p.Gln237*						p.Q237*	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	6	861	-			237			Extracellular (Probable).		Q5H9T8	Nonsense_Mutation	SNP	ENST00000295452.4	37	c.709C>T	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	38	7.045435	0.98025	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	.	.	.	5.83	5.83	0.93111	.	0.057035	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1642	0.93548	0.0:0.0:1.0:0.0	.	.	.	.	X	237	.	ENSP00000295452:Q237X	Q	-	1	0	GABRG1	45755313	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.776000	0.99001	2.775000	0.95449	0.650000	0.86243	CAG		0.353	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		5	35	0	0	0	0.001168	0	5	35				
GABRG1	2565	broad.mit.edu	37	4	46125848	46125848	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:46125848A>G	ENST00000295452.4	-	1	250	c.83T>C	c.(82-84)cTg>cCg	p.L28P		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	28					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L28P(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	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)|Ketazolam(DB01587)|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)	ATGCAGGGTCAGTAACAAGAA	0.413																																							uc003gxb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(82-84)CTG>CCG		gamma-aminobutyric acid A receptor, gamma 1							75.0	79.0	77.0					4																	46125848		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46125848A>G	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.83T>C	4.37:g.46125848A>G	ENSP00000295452:p.Leu28Pro						p.L28P	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	1	235	-			28					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.83T>C	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.621181	0.28889	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.69926	-0.44	4.88	4.88	0.63580	.	0.495709	0.19304	N	0.117562	T	0.76018	0.3929	L	0.56280	1.765	0.58432	D	0.999998	D	0.65815	0.995	D	0.72982	0.979	T	0.75593	-0.3264	10	0.49607	T	0.09	.	11.06	0.47942	1.0:0.0:0.0:0.0	.	28	Q8N1C3	GBRG1_HUMAN	P	28	ENSP00000295452:L28P	ENSP00000295452:L28P	L	-	2	0	GABRG1	45820605	1.000000	0.71417	0.994000	0.49952	0.310000	0.27922	4.248000	0.58760	2.189000	0.69895	0.460000	0.39030	CTG		0.413	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		3	29	0	0	0	0.004672	0	3	29				
GABRA2	2555	broad.mit.edu	37	4	46314713	46314713	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:46314713G>T	ENST00000510861.1	-	5	449	c.276C>A	c.(274-276)ttC>ttA	p.F92L	GABRA2_ENST00000507069.1_Missense_Mutation_p.F92L|GABRA2_ENST00000356504.1_Missense_Mutation_p.F92L|GABRA2_ENST00000515082.1_Missense_Mutation_p.F92L|GABRA2_ENST00000540012.1_Missense_Mutation_p.F37L|GABRA2_ENST00000381620.4_Missense_Mutation_p.F92L|GABRA2_ENST00000514090.1_Missense_Mutation_p.F92L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	92					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F92L(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTTGTCGAAAGAAAACATCAA	0.274																																							uc003gxc.3		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|skin(2)	4						c.(274-276)TTC>TTA		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						28.0	29.0	29.0					4																	46314713		2188	4290	6478	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46314713G>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.276C>A	4.37:g.46314713G>T	ENSP00000421828:p.Phe92Leu					GABRA2_uc010igc.2_Missense_Mutation_p.F92L|GABRA2_uc011bzc.1_Missense_Mutation_p.F37L|GABRA2_uc003gxe.2_Missense_Mutation_p.F92L	p.F92L	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			4	949	-			92			Extracellular (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.276C>A	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044222	0.75732	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961	T;T;T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.95	2.37	0.29283	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.84188	0.5417	M	0.66939	2.045	0.47308	D	0.999387	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.997;0.998;0.996	T	0.82151	-0.0599	10	0.87932	D	0	.	8.6218	0.33866	0.3559:0.0:0.6441:0.0	.	37;92;92	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	L	92;92;92;92;37;92;92;92;92	ENSP00000421828:F92L;ENSP00000421300:F92L;ENSP00000371033:F92L;ENSP00000348897:F92L;ENSP00000444409:F37L;ENSP00000427603:F92L;ENSP00000423840:F92L;ENSP00000424362:F92L;ENSP00000424093:F92L	ENSP00000348897:F92L	F	-	3	2	GABRA2	46009470	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	1.282000	0.33226	0.138000	0.18790	0.563000	0.77884	TTC		0.274	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			7	26	1	0	5.18039e-06	0.00308	5.99923e-06	7	26				
CNGA1	1259	broad.mit.edu	37	4	47939841	47939841	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:47939841G>C	ENST00000514170.1	-	11	989	c.670C>G	c.(670-672)Cta>Gta	p.L224V	CNGA1_ENST00000358519.4_Missense_Mutation_p.L224V|CNGA1_ENST00000420489.2_Missense_Mutation_p.L224V|CNGA1_ENST00000402813.3_Missense_Mutation_p.L293V|CNGA1_ENST00000544810.1_Missense_Mutation_p.L224V			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	224					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.L224V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CCTTGTTCTAGGTAACCTAAA	0.299																																							uc003gxt.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(670-672)CTA>GTA		cyclic nucleotide gated channel alpha 1 isoform							48.0	51.0	50.0					4																	47939841		1799	4060	5859	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47939841G>C	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.670C>G	4.37:g.47939841G>C	ENSP00000426862:p.Leu224Val					uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.L293V	p.L224V	NM_000087	NP_000078	P29973	CNGA1_HUMAN			11	936	-			224			Cytoplasmic (Potential).		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.670C>G	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530593	0.45073	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.98296	-4.85;-4.85;-4.85;-4.85;-4.85	5.53	3.58	0.41010	Ion transport (1);	0.149549	0.46145	D	0.000314	D	0.96294	0.8791	M	0.64404	1.975	0.42742	D	0.993742	B;B	0.25441	0.126;0.126	B;B	0.30179	0.112;0.112	D	0.92464	0.5980	10	0.25106	T	0.35	.	8.3934	0.32542	0.2623:0.0:0.7377:0.0	.	224;224	Q4W5E3;P29973	.;CNGA1_HUMAN	V	293;224;224;224;224	ENSP00000384264:L293V;ENSP00000426862:L224V;ENSP00000443401:L224V;ENSP00000351320:L224V;ENSP00000389881:L224V	ENSP00000351320:L224V	L	-	1	2	CNGA1	47634598	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	3.256000	0.51492	0.514000	0.28300	0.650000	0.86243	CTA		0.299	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		17	52	0	0	0	0.004007	0	17	52				
SPATA18	132671	broad.mit.edu	37	4	52945942	52945942	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:52945942G>T	ENST00000295213.4	+	9	1586	c.1212G>T	c.(1210-1212)aaG>aaT	p.K404N	SPATA18_ENST00000419395.2_Missense_Mutation_p.K372N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	404					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.K404N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCAATCCCAAGATTTCATTCC	0.443																																							uc003gzl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1210-1212)AAG>AAT		spermatogenesis associated 18 homolog							289.0	270.0	277.0					4																	52945942		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52945942G>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1212G>T	4.37:g.52945942G>T	ENSP00000295213:p.Lys404Asn					SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.K372N|SPATA18_uc003gzk.1_Missense_Mutation_p.K404N	p.K404N	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		9	1490	+			404					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1212G>T	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559194	0.65538	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.34859	1.34;3.69	5.4	5.4	0.78164	.	0.318068	0.38326	N	0.001736	T	0.52322	0.1727	L	0.55481	1.735	0.43647	D	0.996057	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.973;0.973;0.997	T	0.51474	-0.8701	10	0.66056	D	0.02	-28.9994	9.989	0.41858	0.089:0.0:0.911:0.0	.	372;404;404	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	N	404;372	ENSP00000295213:K404N;ENSP00000415309:K372N	ENSP00000295213:K404N	K	+	3	2	SPATA18	52640699	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.347000	0.44036	2.814000	0.96858	0.655000	0.94253	AAG		0.443	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		39	304	1	0	3.43241e-23	0.009718	5.4204e-23	39	304				
LNX1	84708	broad.mit.edu	37	4	54347885	54347885	+	Splice_Site	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:54347885A>G	ENST00000263925.7	-	7	1800		c.e7+1		LNX1_ENST00000306888.2_Splice_Site|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase						protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TAGAGGCCTCACCTTGGGAGT	0.562																																							uc003hag.3		NA																	2	Unknown(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.e7+1		ligand of numb-protein X 1 isoform a							34.0	33.0	33.0					4																	54347885		2203	4300	6503	SO:0001630	splice_region_variant	84708					cytoplasm	zinc ion binding	g.chr4:54347885A>G	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1485+1T>C	4.37:g.54347885A>G						PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Splice_Site_p.K399_splice|LNX1_uc003hah.3_Splice_Site	p.K495_splice	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		7	1741	-	all_neural(26;0.153)							Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Splice_Site	SNP	ENST00000263925.7	37	c.1485_splice	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.005602	0.35415	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4926	0.67663	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LNX1	54042642	1.000000	0.71417	0.999000	0.59377	0.137000	0.21094	6.963000	0.76055	2.005000	0.58758	0.459000	0.35465	.		0.562	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2		Intron	6	28	0	0	0	0.001168	0	6	28				
CENPC	1060	broad.mit.edu	37	4	68374577	68374577	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:68374577C>A	ENST00000273853.6	-	10	2109	c.1859G>T	c.(1858-1860)aGt>aTt	p.S620I		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	620					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)	p.S620I(1)									TGCCTCATCACTTTCCAATGG	0.368																																							uc003hdd.1		NA																	1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|lung(1)	2						c.(1858-1860)AGT>ATT		centromere protein C 1							97.0	92.0	94.0					4																	68374577		1885	4110	5995	SO:0001583	missense	1060				mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding	g.chr4:68374577C>A	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.1859G>T	4.37:g.68374577C>A	ENSP00000273853:p.Ser620Ile					CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Missense_Mutation_p.S620I	p.S620I	NM_001812	NP_001803	Q03188	CENPC_HUMAN			10	2042	-			620					Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	c.1859G>T	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	C	8.245	0.807734	0.16467	.	.	ENSG00000145241	ENST00000273853	.	.	.	5.1	-3.27	0.05048	.	1.737180	0.02406	N	0.081160	T	0.30510	0.0767	L	0.42245	1.32	0.09310	N	1	B;B	0.22003	0.063;0.022	B;B	0.15870	0.014;0.014	T	0.06698	-1.0812	9	0.32370	T	0.25	0.395	2.4333	0.04477	0.1334:0.2413:0.1306:0.4947	.	620;620	Q8IW27;Q03188	.;CENPC_HUMAN	I	620	.	ENSP00000273853:S620I	S	-	2	0	CENPC1	68057172	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.029000	0.03585	-0.637000	0.05516	-0.145000	0.13849	AGT		0.368	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			14	69	1	0	1.02788e-11	0.00499	1.396e-11	14	69				
UBA6	55236	broad.mit.edu	37	4	68488607	68488607	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:68488607C>G	ENST00000322244.5	-	32	3024	c.2965G>C	c.(2965-2967)Gga>Cga	p.G989R		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	989					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)	p.G989R(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ATTTTGACTCCCTGTACCACC	0.333																																							uc003hdg.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2965-2967)GGA>CGA		ubiquitin-activating enzyme E1-like 2							139.0	129.0	132.0					4																	68488607		2203	4300	6503	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68488607C>G	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.2965G>C	4.37:g.68488607C>G	ENSP00000313454:p.Gly989Arg						p.G989R	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			32	3017	-			989					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.2965G>C	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070178	0.93950	.	.	ENSG00000033178	ENST00000322244	T	0.53640	0.61	6.07	6.07	0.98685	Ubiquitin-activating enzyme e1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76730	0.4028	M	0.92507	3.315	0.80722	D	1	D	0.69078	0.997	D	0.64776	0.929	T	0.80289	-0.1445	10	0.59425	D	0.04	-1.0608	20.6593	0.99626	0.0:1.0:0.0:0.0	.	989	A0AVT1	UBA6_HUMAN	R	989	ENSP00000313454:G989R	ENSP00000313454:G989R	G	-	1	0	UBA6	68171202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.298000	0.78815	2.885000	0.99019	0.655000	0.94253	GGA		0.333	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		10	87	0	0	0	0.001368	0	10	87				
EPGN	255324	broad.mit.edu	37	4	75178861	75178861	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:75178861T>A	ENST00000413830.1	+	4	442	c.381T>A	c.(379-381)gtT>gtA	p.V127V	EPGN_ENST00000509145.1_Intron|EPGN_ENST00000332112.4_Silent_p.V118V|EPGN_ENST00000503098.1_Intron|EPGN_ENST00000505212.1_Intron|EPGN_ENST00000502358.1_Intron|EPGN_ENST00000514968.1_Intron	NM_001270989.1	NP_001257918.1	Q6UW88	EPGN_HUMAN	epithelial mitogen	127					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|MAP kinase kinase activity (GO:0004708)	p.V118V(1)		breast(3)|liver(1)|lung(1)|skin(1)	6			Lung(101;0.196)			GTTTTCTTGTTATTTTTTACT	0.318																																							uc003hic.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(379-381)GTT>GTA		SubName: Full=cDNA FLJ75542;							134.0	139.0	138.0					4																	75178861		2202	4299	6501	SO:0001819	synonymous_variant	255324				activation of MAPK activity|angiogenesis|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	extracellular region|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity	g.chr4:75178861T>A		CCDS59475.1, CCDS59476.1, CCDS59477.1, CCDS59478.1, CCDS59479.1	4q13.3	2012-12-07	2012-12-07						17470	protein-coding gene	gene with protein product			"""epithelial mitogen homolog (mouse)"""				Standard	NM_001270989		Approved	epigen, EPG, PRO9904, ALGV3072	uc003hic.2	Q6UW88		ENST00000413830.1:c.381T>A	4.37:g.75178861T>A						uc003hhv.1_Intron|EPGN_uc003hhw.2_Silent_p.V118V|EPGN_uc003hhx.1_Intron|EPGN_uc003hhy.1_Intron|EPGN_uc003hhz.1_Intron|EPGN_uc010iin.1_Intron|EPGN_uc003hia.1_Intron|EPGN_uc003hib.1_Intron	p.V127V			Q6UW88	EPGN_HUMAN	Lung(101;0.196)		4	428	+			127			Helical; (Potential).		A1BMM3|A1BMM4|A1BMM5|A1BMM6|A1BMM7|A1BMM8|A8K090	Silent	SNP	ENST00000413830.1	37	c.381T>A	CCDS59478.1	.	.	.	.	.	.	.	.	.	.	T	9.466	1.094330	0.20471	.	.	ENSG00000182585	ENST00000446430	.	.	.	5.93	3.56	0.40772	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50634	-0.8805	4	.	.	.	-0.3348	6.4284	0.21782	0.0:0.2524:0.0:0.7476	.	.	.	.	N	103	.	.	Y	+	1	0	EPGN	75397725	0.043000	0.20138	0.992000	0.48379	0.886000	0.51366	0.018000	0.13422	1.075000	0.40932	0.528000	0.53228	TAT		0.318	EPGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362738.1	NM_001013442		7	46	0	0	0	0.001984	0	7	46				
SOWAHB	345079	broad.mit.edu	37	4	77817832	77817832	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:77817832G>T	ENST00000334306.2	-	1	1170	c.1171C>A	c.(1171-1173)Ctc>Atc	p.L391I		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	391								p.L391I(1)									AGATCTTGGAGGGACAGCTGA	0.572																																							uc003hki.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1171-1173)CTC>ATC		ankyrin repeat domain 56							72.0	78.0	76.0					4																	77817832		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77817832G>T		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1171C>A	4.37:g.77817832G>T	ENSP00000334879:p.Leu391Ile						p.L391I	NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN			1	1171	-			391					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1171C>A	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782499	0.49891	.	.	ENSG00000186212	ENST00000334306	T	0.17213	2.29	4.56	3.72	0.42706	.	0.246208	0.20977	U	0.082282	T	0.14787	0.0357	L	0.27053	0.805	0.26694	N	0.971306	D	0.54047	0.964	P	0.45310	0.476	T	0.04635	-1.0937	10	0.49607	T	0.09	-6.9025	11.5408	0.50665	0.0884:0.0:0.9116:0.0	.	391	A6NEL2	ANR56_HUMAN	I	391	ENSP00000334879:L391I	ENSP00000334879:L391I	L	-	1	0	ANKRD56	78036856	1.000000	0.71417	0.993000	0.49108	0.315000	0.28087	3.357000	0.52277	1.136000	0.42199	0.655000	0.94253	CTC		0.572	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		12	133	1	0	4.93089e-13	0.00245	6.85235e-13	12	133				
FRAS1	80144	broad.mit.edu	37	4	79393416	79393416	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:79393416C>G	ENST00000264895.6	+	52	7894	c.7454C>G	c.(7453-7455)aCg>aGg	p.T2485R		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2485					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.T2485R(1)|p.T2486R(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAGATAACGACGGGCCCTAAG	0.542																																							uc003hlb.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(5)	5						c.(7453-7455)ACG>AGG		Fraser syndrome 1							55.0	57.0	57.0					4																	79393416		2010	4175	6185	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79393416C>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7454C>G	4.37:g.79393416C>G	ENSP00000264895:p.Thr2485Arg						p.T2485R	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			52	7894	+			2484			CSPG 12.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.7454C>G	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.343|0.343	-0.949058|-0.949058	0.02304|0.02304	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.41400	.|1.0	5.09|5.09	0.205|0.205	0.15204|0.15204	.|.	.|0.488214	.|0.21607	.|N	.|0.071858	T|T	0.15262|0.15262	0.0368|0.0368	N|N	0.16266|0.16266	0.395|0.395	0.09310|0.09310	N|N	1|1	.|P	.|0.45569	.|0.861	.|B	.|0.34590	.|0.186	T|T	0.16837|0.16837	-1.0389|-1.0389	5|10	.|0.20046	.|T	.|0.44	.|.	0.9548|0.9548	0.01383|0.01383	0.2253:0.3077:0.1104:0.3566|0.2253:0.3077:0.1104:0.3566	.|.	.|2485	.|E9PHH6	.|.	E|R	713|2485	.|ENSP00000264895:T2485R	.|ENSP00000264895:T2485R	D|T	+|+	3|2	2|0	FRAS1|FRAS1	79612440|79612440	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.838000|0.838000	0.27572|0.27572	-0.202000|-0.202000	0.10268|0.10268	0.655000|0.655000	0.94253|0.94253	GAC|ACG		0.542	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	35	0	0	0	0.004482	0	7	35				
RASGEF1B	153020	broad.mit.edu	37	4	82369249	82369249	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:82369249C>A	ENST00000264400.2	-	5	779	c.628G>T	c.(628-630)Gcc>Tcc	p.A210S	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.A168S|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.A209S	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	210	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.A210S(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						AGCTGCTGGGCCAACGTGTAA	0.463																																							uc003hmi.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(628-630)GCC>TCC		RasGEF domain family, member 1B							212.0	179.0	190.0					4																	82369249		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82369249C>A	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.628G>T	4.37:g.82369249C>A	ENSP00000264400:p.Ala210Ser					RASGEF1B_uc003hmj.1_Missense_Mutation_p.A209S|RASGEF1B_uc010ijq.1_Missense_Mutation_p.A168S	p.A210S	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN			5	772	-			210			Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.628G>T	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941202	0.92526	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	5.31	5.31	0.75309	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	D	0.88168	0.6364	M	0.93594	3.435	0.80722	D	1	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.69654	0.919;0.965;0.951	D	0.90522	0.4489	10	0.66056	D	0.02	.	18.7741	0.91902	0.0:1.0:0.0:0.0	.	168;209;210	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	S	209;210;168;55	ENSP00000425393:A209S;ENSP00000264400:A210S;ENSP00000338437:A168S;ENSP00000426929:A55S	ENSP00000264400:A210S	A	-	1	0	RASGEF1B	82588273	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.320000	0.79064	2.779000	0.95612	0.591000	0.81541	GCC		0.463	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		15	131	1	0	3.45872e-05	0.004007	3.90465e-05	15	131				
WDFY3	23001	broad.mit.edu	37	4	85639672	85639672	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:85639672C>A	ENST00000295888.4	-	48	8064	c.7657G>T	c.(7657-7659)Ggg>Tgg	p.G2553W	WDFY3_ENST00000322366.6_Missense_Mutation_p.G2536W	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2553	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.G2553W(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGAAGGAGCCCCTCACTGGTA	0.398																																							uc003hpd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(7657-7659)GGG>TGG		WD repeat and FYVE domain containing 3 isoform							99.0	102.0	101.0					4																	85639672		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85639672C>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7657G>T	4.37:g.85639672C>A	ENSP00000295888:p.Gly2553Trp					WDFY3_uc003hpe.1_Missense_Mutation_p.G164W	p.G2553W	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	48	8065	-		Hepatocellular(203;0.114)	2553					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.7657G>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856525	0.91355	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	D;D;T	0.83163	-1.64;-1.69;-1.12	5.83	5.83	0.93111	PH-BEACH domain (1);	0.000000	0.85682	D	0.000000	D	0.91754	0.7392	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91904	0.5534	10	0.87932	D	0	.	20.1047	0.97888	0.0:1.0:0.0:0.0	.	2553	Q8IZQ1	WDFY3_HUMAN	W	2536;2553;156	ENSP00000318466:G2536W;ENSP00000295888:G2553W;ENSP00000424987:G156W	ENSP00000295888:G2553W	G	-	1	0	WDFY3	85858696	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.487000	0.81328	2.762000	0.94881	0.655000	0.94253	GGG		0.398	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		16	107	1	0	1.33834e-09	0.007413	1.72828e-09	16	107				
WDFY3	23001	broad.mit.edu	37	4	85678286	85678286	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:85678286C>A	ENST00000295888.4	-	33	5624	c.5217G>T	c.(5215-5217)ggG>ggT	p.G1739G	WDFY3_ENST00000322366.6_Silent_p.G1739G	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1739					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.G1739G(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCGTCGATCTCCCACCAGCAC	0.443																																							uc003hpd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(5215-5217)GGG>GGT		WD repeat and FYVE domain containing 3 isoform							116.0	108.0	111.0					4																	85678286		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85678286C>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5217G>T	4.37:g.85678286C>A							p.G1739G	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	33	5625	-		Hepatocellular(203;0.114)	1739					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.5217G>T	CCDS3609.1																																																																																				0.443	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		19	53	1	0	8.34094e-07	0.008871	9.84999e-07	19	53				
HSP90AB3P	3327	broad.mit.edu	37	4	88813117	88813117	+	IGR	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:88813117G>T								MEPE (45148 upstream) : SPP1 (83701 downstream)																							TTTTCCTTCAGGAGTTGATCT	0.448																																							uc010iko.1		NA																	0					NA						c.(121-123)CAG>CAT		SubName: Full=Heat shock protein 90kDa alpha (Cytosolic), class B member 1, isoform CRA_a; SubName: Full=cDNA, FLJ92550, Homo sapiens heat shock 90kDa protein 1, beta (HSPCB), mRNA;																																				SO:0001628	intergenic_variant	0							g.chr4:88813117G>T																													4.37:g.88813117G>T							p.Q41H							1	123	+									Missense_Mutation	SNP		37	c.123G>T																																																																																				0	0.448									13	133	1	0	7.03913e-09	0.001368	8.92949e-09	13	133				
PDHA2	5161	broad.mit.edu	37	4	96761513	96761513	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:96761513G>A	ENST00000295266.4	+	1	275	c.212G>A	c.(211-213)cGc>cAc	p.R71H		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	71					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.R71H(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ACTGTTCGCCGCATGGAATTG	0.507																																							uc003htr.3		NA																	2	Substitution - Missense(2)		lung(1)|prostate(1)	central_nervous_system(1)	1						c.(211-213)CGC>CAC		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						98.0	85.0	89.0					4																	96761513		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761513G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.212G>A	4.37:g.96761513G>A	ENSP00000295266:p.Arg71His						p.R71H	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	275	+		Hepatocellular(203;0.114)	71					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.212G>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049563	0.55218	.	.	ENSG00000163114	ENST00000295266	D	0.97041	-4.22	4.8	3.96	0.45880	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.96580	0.8884	M	0.87456	2.885	0.58432	D	0.999999	B	0.33379	0.41	B	0.34991	0.193	D	0.96396	0.9293	10	0.87932	D	0	-17.6409	11.3432	0.49546	0.0892:0.0:0.9108:0.0	.	71	P29803	ODPAT_HUMAN	H	71	ENSP00000295266:R71H	ENSP00000295266:R71H	R	+	2	0	PDHA2	96980536	1.000000	0.71417	0.911000	0.35937	0.781000	0.44180	3.431000	0.52814	1.402000	0.46780	-0.459000	0.05422	CGC		0.507	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			10	77	0	0	0	0.008291	0	10	77				
CYP2U1	113612	broad.mit.edu	37	4	108866742	108866742	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:108866742G>T	ENST00000332884.6	+	2	1382	c.1107G>T	c.(1105-1107)tcG>tcT	p.S369S	CYP2U1_ENST00000508453.1_Silent_p.S160S|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	369					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.S369S(1)		breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		TGTATATGTCGCTGAACCCCG	0.403																																							uc003hyp.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1105-1107)TCG>TCT		cytochrome P450, family 2, subfamily U,							139.0	136.0	137.0					4																	108866742		2203	4300	6503	SO:0001819	synonymous_variant	113612				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr4:108866742G>T	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.1107G>T	4.37:g.108866742G>T						CYP2U1_uc011cfi.1_Silent_p.S160S	p.S369S	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	2	1190	+		Hepatocellular(203;0.217)	369					B2RMV7|Q96EQ6	Silent	SNP	ENST00000332884.6	37	c.1107G>T	CCDS34047.1																																																																																				0.403	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		24	181	1	0	9.39395e-14	0.00632	1.32599e-13	24	181				
ALPK1	80216	broad.mit.edu	37	4	113353610	113353610	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:113353610C>G	ENST00000458497.1	+	11	3186	c.2907C>G	c.(2905-2907)atC>atG	p.I969M	ALPK1_ENST00000177648.9_Missense_Mutation_p.I969M|ALPK1_ENST00000504176.2_Missense_Mutation_p.I891M	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	969							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I969M(1)|p.I969I(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GGAAAGAGATCCTTGAGGCTC	0.488																																							uc003iap.3		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(5)	5						c.(2905-2907)ATC>ATG		alpha-kinase 1							81.0	83.0	82.0					4																	113353610		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113353610C>G	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2907C>G	4.37:g.113353610C>G	ENSP00000398048:p.Ile969Met					ALPK1_uc003ian.3_Missense_Mutation_p.I969M|ALPK1_uc011cfx.1_Missense_Mutation_p.I891M|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.I797M	p.I969M	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	3186	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	969					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.2907C>G	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038522	0.35989	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.04015	3.81;3.81;3.73	5.42	1.48	0.22813	.	0.686043	0.14402	N	0.321815	T	0.10766	0.0263	M	0.72118	2.19	0.09310	N	1	D;D;P	0.54397	0.958;0.966;0.93	P;P;B	0.51866	0.682;0.564;0.388	T	0.13072	-1.0523	10	0.87932	D	0	-0.3783	6.3582	0.21412	0.1184:0.6808:0.1151:0.0857	.	891;891;969	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	M	969;969;891	ENSP00000398048:I969M;ENSP00000177648:I969M;ENSP00000426044:I891M	ENSP00000177648:I969M	I	+	3	3	ALPK1	113573059	0.026000	0.19158	0.003000	0.11579	0.345000	0.29048	0.011000	0.13264	-0.034000	0.13713	0.655000	0.94253	ATC		0.488	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		18	68	0	0	0	0.008871	0	18	68				
ZGRF1	55345	broad.mit.edu	37	4	113541196	113541196	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:113541196G>A	ENST00000505019.1	-	5	438	c.313C>T	c.(313-315)Ctt>Ttt	p.L105F	C4orf21_ENST00000309071.5_Missense_Mutation_p.L105F|C4orf21_ENST00000445203.2_Missense_Mutation_p.L74F	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		105						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.L105F(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGACATCCAAGAGATCGGCCA	0.343																																							uc003iau.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(313-315)CTT>TTT		prematurely terminated mRNA decay factor-like							67.0	63.0	64.0					4																	113541196		2203	4300	6503	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113541196G>A																												ENST00000505019.1:c.313C>T	4.37:g.113541196G>A	ENSP00000424737:p.Leu105Phe					C4orf21_uc003iaw.2_Missense_Mutation_p.L105F	p.L105F	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	5	524	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.313C>T		.	.	.	.	.	.	.	.	.	.	G	18.72	3.683479	0.68157	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203;ENST00000503172	D;T;T	0.83506	-1.73;1.77;1.34	5.19	2.19	0.27852	.	1.438520	0.04836	N	0.439511	D	0.83496	0.5267	M	0.62723	1.935	0.09310	N	1	B;B	0.30021	0.265;0.226	B;B	0.40477	0.271;0.33	T	0.70178	-0.4943	10	0.49607	T	0.09	-3.5692	4.9041	0.13789	0.254:0.0:0.5773:0.1688	.	105;105	Q86YA3;G5EA02	CD021_HUMAN;.	F	105;105;74;105	ENSP00000424737:L105F;ENSP00000309095:L105F;ENSP00000390505:L74F	ENSP00000309095:L105F	L	-	1	0	C4orf21	113760645	0.000000	0.05858	0.004000	0.12327	0.860000	0.49131	0.260000	0.18424	1.178000	0.42870	0.591000	0.81541	CTT		0.343	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			10	63	0	0	0	0.000978	0	10	63				
CEP170P1	645455	broad.mit.edu	37	4	119444550	119444550	+	RNA	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:119444550G>T	ENST00000412784.2	+	0	123					NR_003135.2		Q96L14	C170L_HUMAN	centrosomal protein 170kDa pseudogene 1								identical protein binding (GO:0042802)	p.E13D(1)									GGATTAAAGAGCAGGAAGACT	0.428																																							uc003icb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(37-39)GAG>GAT		RecName: Full=Cep170-like protein;																																						645455							g.chr4:119444550G>T	BC014590		4q26	2010-10-11	2010-10-11	2010-10-11	ENSG00000154608	ENSG00000154608			28364	pseudogene	pseudogene			"""KIAA0470-like"", ""centrosomal protein 170kDa-like"""	KIAA0470L, CEP170L			Standard	NR_003135		Approved	MGC26143, FAM68B	uc003icb.3	Q96L14	OTTHUMG00000132958		4.37:g.119444550G>T							p.E13D	NR_003135						2	123	+									Missense_Mutation	SNP	ENST00000412784.2	37	c.39G>T																																																																																					0.428	CEP170P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000364033.2	NR_003135.2		4	5	1	0	0.00024832	0.009096	0.000271513	4	5				
SPRY1	10252	broad.mit.edu	37	4	124322828	124322828	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:124322828G>A	ENST00000394339.2	+	2	422	c.82G>A	c.(82-84)Gac>Aac	p.D28N	SPRY1_ENST00000339241.1_Missense_Mutation_p.D28N	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	28					epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.D28N(1)		NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						TCAGAGATTAGACTATGAGAG	0.468																																							uc003ifa.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(82-84)GAC>AAC		sprouty homolog 1, antagonist of FGF signaling							182.0	193.0	189.0					4																	124322828		2203	4300	6503	SO:0001583	missense	10252				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane		g.chr4:124322828G>A	AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.82G>A	4.37:g.124322828G>A	ENSP00000377871:p.Asp28Asn					SPRY1_uc003ifb.2_Missense_Mutation_p.D28N	p.D28N	NM_199327	NP_955359	O43609	SPY1_HUMAN			2	270	+			28					D3DNX6|Q6PNE0	Missense_Mutation	SNP	ENST00000394339.2	37	c.82G>A	CCDS3731.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281340	0.40394	.	.	ENSG00000164056	ENST00000505319;ENST00000339241;ENST00000507703;ENST00000394339;ENST00000508849	T;T;T	0.56275	0.47;1.45;0.47	4.46	3.61	0.41365	.	0.266536	0.30455	N	0.009590	T	0.46639	0.1403	L	0.44542	1.39	0.39431	D	0.967076	P	0.34934	0.476	B	0.37198	0.243	T	0.50030	-0.8875	10	0.40728	T	0.16	-22.8681	13.9178	0.63911	0.0:0.0:0.8468:0.1532	.	28	O43609	SPY1_HUMAN	N	28	ENSP00000343785:D28N;ENSP00000421036:D28N;ENSP00000377871:D28N	ENSP00000343785:D28N	D	+	1	0	SPRY1	124542278	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	8.440000	0.90311	1.225000	0.43566	0.561000	0.74099	GAC		0.468	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256711.1			33	222	0	0	0	0.002096	0	33	222				
PLK4	10733	broad.mit.edu	37	4	128816214	128816214	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:128816214C>G	ENST00000270861.5	+	14	2943	c.2669C>G	c.(2668-2670)tCt>tGt	p.S890C	PLK4_ENST00000513090.1_Missense_Mutation_p.S858C|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000514379.1_Missense_Mutation_p.S849C|PLK4_ENST00000515069.1_Missense_Mutation_p.S812C|PLK4_ENST00000507249.1_Missense_Mutation_p.S829C	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	890					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S890C(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CTTTTGAAATCTGTTTTTGTG	0.348																																					Colon(135;508 1718 19061 31832 42879)	Colon(135;508 1718 19061 31832 42879)	uc003ifo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2668-2670)TCT>TGT		polo-like kinase 4							110.0	113.0	112.0					4																	128816214		2202	4299	6501	SO:0001583	missense	10733				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128816214C>G	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2669C>G	4.37:g.128816214C>G	ENSP00000270861:p.Ser890Cys					PLK4_uc011cgs.1_Missense_Mutation_p.S858C|PLK4_uc011cgt.1_Missense_Mutation_p.S849C	p.S890C	NM_014264	NP_055079	O00444	PLK4_HUMAN			14	2914	+			890					B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.2669C>G	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460626	0.84317	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379;ENST00000508113	T;T;T;T;T;T	0.71817	-0.45;-0.42;-0.6;-0.42;-0.52;0.62	5.27	5.27	0.74061	.	0.052718	0.85682	D	0.000000	T	0.82056	0.4954	L	0.59436	1.845	0.58432	D	0.999995	D;D	0.89917	0.996;1.0	D;D	0.70487	0.941;0.969	T	0.83127	-0.0115	10	0.72032	D	0.01	-7.9847	18.667	0.91493	0.0:1.0:0.0:0.0	.	858;890	O00444-2;O00444	.;PLK4_HUMAN	C	890;812;858;829;849;136	ENSP00000270861:S890C;ENSP00000421774:S812C;ENSP00000427554:S858C;ENSP00000423412:S829C;ENSP00000423582:S849C;ENSP00000427568:S136C	ENSP00000270861:S890C	S	+	2	0	PLK4	129035664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.133000	0.71682	2.734000	0.93682	0.484000	0.47621	TCT		0.348	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			11	79	0	0	0	0.001368	0	11	79				
PCDH10	57575	broad.mit.edu	37	4	134071803	134071803	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:134071803G>C	ENST00000264360.5	+	1	1334	c.508G>C	c.(508-510)Gac>Cac	p.D170H	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	170	Cadherin 2. {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.D170H(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTTCTCCCTGGACGTGCAGAC	0.637																																							uc003iha.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(508-510)GAC>CAC		protocadherin 10 isoform 1 precursor							68.0	62.0	64.0					4																	134071803		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071803G>C	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.508G>C	4.37:g.134071803G>C	ENSP00000264360:p.Asp170His					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.D170H	p.D170H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1334	+			170			Extracellular (Potential).|Cadherin 2.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.508G>C	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372821	0.42105	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.20598	2.06	4.63	3.79	0.43588	Cadherin (3);Cadherin-like (1);	0.000000	0.47455	D	0.000221	T	0.45518	0.1346	M	0.79614	2.46	0.58432	D	0.999999	D;P	0.89917	1.0;0.754	D;P	0.87578	0.998;0.665	T	0.45041	-0.9288	10	0.54805	T	0.06	.	12.0138	0.53303	0.0849:0.0:0.9151:0.0	.	170;170	Q9P2E7;Q96SF0	PCD10_HUMAN;.	H	170	ENSP00000264360:D170H	ENSP00000264360:D170H	D	+	1	0	PCDH10	134291253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.649000	0.98487	1.145000	0.42336	0.555000	0.69702	GAC		0.637	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		6	79	0	0	0	0.00308	0	6	79				
INPP4B	8821	broad.mit.edu	37	4	143129581	143129581	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:143129581T>A	ENST00000513000.1	-	15	1502	c.1069A>T	c.(1069-1071)Aaa>Taa	p.K357*	INPP4B_ENST00000509777.1_Nonsense_Mutation_p.K357*|INPP4B_ENST00000308502.4_Nonsense_Mutation_p.K357*|INPP4B_ENST00000508116.1_Nonsense_Mutation_p.K357*|INPP4B_ENST00000262992.4_Nonsense_Mutation_p.K357*	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	357					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.K357*(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ATGATACCTTTCAAGTGAGGG	0.328																																							uc003iix.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1069-1071)AAA>TAA		inositol polyphosphate-4-phosphatase, type II,							87.0	88.0	88.0					4																	143129581		2203	4300	6503	SO:0001587	stop_gained	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143129581T>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1069A>T	4.37:g.143129581T>A	ENSP00000425487:p.Lys357*					INPP4B_uc003iiw.3_Nonsense_Mutation_p.K357*|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Nonsense_Mutation_p.K172*|INPP4B_uc011cho.1_Intron|INPP4B_uc011chp.1_Nonsense_Mutation_p.K228*	p.K357*	NM_003866	NP_003857	O15327	INP4B_HUMAN			15	1664	-	all_hematologic(180;0.158)		357					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Nonsense_Mutation	SNP	ENST00000513000.1	37	c.1069A>T	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	T	35	5.553213	0.96501	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	.	.	.	5.71	4.51	0.55191	.	0.050491	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1743	0.54176	0.0:0.0:0.1431:0.8569	.	.	.	.	X	357;357;357;228;357;357;172;172;357;228	.	ENSP00000262992:K357X	K	-	1	0	INPP4B	143349031	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	5.557000	0.67313	0.975000	0.38392	-0.501000	0.04562	AAA		0.328	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		8	67	0	0	0	0.004482	0	8	67				
INPP4B	8821	broad.mit.edu	37	4	143191873	143191873	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:143191873C>A	ENST00000513000.1	-	11	991	c.558G>T	c.(556-558)atG>atT	p.M186I	INPP4B_ENST00000509777.1_Missense_Mutation_p.M186I|INPP4B_ENST00000308502.4_Missense_Mutation_p.M186I|INPP4B_ENST00000508116.1_Missense_Mutation_p.M186I|INPP4B_ENST00000262992.4_Missense_Mutation_p.M186I	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	186					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.M186I(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CAATCTCCCCCATCTTCACGA	0.433																																							uc003iix.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(556-558)ATG>ATT		inositol polyphosphate-4-phosphatase, type II,							228.0	204.0	212.0					4																	143191873		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143191873C>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.558G>T	4.37:g.143191873C>A	ENSP00000425487:p.Met186Ile					INPP4B_uc003iiw.3_Missense_Mutation_p.M186I|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.M1I|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.M57I	p.M186I	NM_003866	NP_003857	O15327	INP4B_HUMAN			11	1153	-	all_hematologic(180;0.158)		186					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.558G>T	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856017	0.91355	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.54255	0.1847	L	0.47716	1.5	0.58432	D	0.999998	D;D	0.63046	0.962;0.992	D;D	0.66716	0.946;0.939	T	0.46679	-0.9174	10	0.42905	T	0.14	.	19.3348	0.94312	0.0:1.0:0.0:0.0	.	57;186	B7Z6T2;O15327	.;INP4B_HUMAN	I	186;186;186;57;186;186;1;1;186;57	ENSP00000425487:M186I;ENSP00000262992:M186I;ENSP00000308441:M186I;ENSP00000423954:M186I;ENSP00000422793:M186I;ENSP00000426207:M1I;ENSP00000427250:M186I;ENSP00000421065:M57I	ENSP00000262992:M186I	M	-	3	0	INPP4B	143411323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.588000	0.67517	2.660000	0.90430	0.655000	0.94253	ATG		0.433	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		10	106	1	0	0.000219431	0.00245	0.00024066	10	106				
OTUD4	54726	broad.mit.edu	37	4	146067520	146067520	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:146067520C>A	ENST00000447906.2	-	14	1508	c.1321G>T	c.(1321-1323)Ggc>Tgc	p.G441C	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Missense_Mutation_p.G376C			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	441					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.G375C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GGGGAAAGGCCGAAATAGTTA	0.398																																							uc003ika.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1126-1128)GGC>TGC		OTU domain containing 4 protein isoform 3							132.0	135.0	134.0					4																	146067520		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146067520C>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1321G>T	4.37:g.146067520C>A	ENSP00000395487:p.Gly441Cys					OTUD4_uc003ijz.3_Missense_Mutation_p.G375C	p.G376C	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			14	1264	-	all_hematologic(180;0.151)		440					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.1126G>T		.	.	.	.	.	.	.	.	.	.	C	23.2	4.387006	0.82902	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.47177	0.85;0.87	5.85	5.01	0.66863	.	0.000000	0.64402	D	0.000001	T	0.49626	0.1568	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61544	-0.7041	10	0.87932	D	0	-0.921	14.8148	0.70024	0.0:0.9313:0.0:0.0687	.	441;440	G3V0I6;Q01804	.;OTUD4_HUMAN	C	376;441	ENSP00000409279:G376C;ENSP00000395487:G441C	ENSP00000395487:G441C	G	-	1	0	OTUD4	146286970	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.091000	0.64505	1.488000	0.48433	0.655000	0.94253	GGC		0.398	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		8	73	1	0	1.06961e-07	0.00308	1.31504e-07	8	73				
FBXW7	55294	broad.mit.edu	37	4	153244298	153244298	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:153244298G>C	ENST00000281708.4	-	12	3088	c.1859C>G	c.(1858-1860)cCc>cGc	p.P620R	FBXW7_ENST00000603841.1_Missense_Mutation_p.P620R|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000263981.5_Missense_Mutation_p.P540R|FBXW7_ENST00000603548.1_Missense_Mutation_p.P620R|FBXW7_ENST00000393956.3_Missense_Mutation_p.P444R|FBXW7_ENST00000296555.5_Missense_Mutation_p.P502R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	620					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.P620R(2)|p.P540R(1)|p.P381R(1)|p.P502R(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCTTGTTGGGACCTAGACA	0.338			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																		uc003ims.2		NA		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		6	Substitution - Missense(5)|Unknown(1)		lung(5)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1858-1860)CCC>CGC		F-box and WD repeat domain containing 7 isoform							53.0	50.0	51.0					4																	153244298		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153244298G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1859C>G	4.37:g.153244298G>C	ENSP00000281708:p.Pro620Arg					FBXW7_uc011cii.1_Missense_Mutation_p.P620R|FBXW7_uc003imt.2_Missense_Mutation_p.P620R|FBXW7_uc011cih.1_Missense_Mutation_p.P444R|FBXW7_uc003imq.2_Missense_Mutation_p.P540R|FBXW7_uc003imr.2_Missense_Mutation_p.P502R	p.P620R	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			12	2008	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	620					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1859C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247207	0.22796	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.67	4.82	0.62117	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	N	0.11201	0.11	0.80722	D	1	B;P;P;P	0.52463	0.231;0.953;0.746;0.746	B;P;B;B	0.53722	0.168;0.733;0.17;0.17	T	0.12372	-1.0550	10	0.59425	D	0.04	-10.9008	16.5614	0.84567	0.0:0.1307:0.8693:0.0	.	444;620;502;540	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	R	620;502;540;444	ENSP00000281708:P620R;ENSP00000296555:P502R;ENSP00000263981:P540R;ENSP00000377528:P444R	ENSP00000263981:P540R	P	-	2	0	FBXW7	153463748	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.827000	0.99397	1.379000	0.46325	0.655000	0.94253	CCC		0.338	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			7	37	0	0	0	0.001984	0	7	37				
FHDC1	85462	broad.mit.edu	37	4	153896824	153896824	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:153896824G>C	ENST00000511601.1	+	12	2569	c.2381G>C	c.(2380-2382)aGa>aCa	p.R794T	FHDC1_ENST00000260008.3_Missense_Mutation_p.R794T			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	794								p.R794T(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TCCAGACCCAGAGGCGGGGAC	0.607																																							uc003inf.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(2380-2382)AGA>ACA		FH2 domain containing 1							59.0	70.0	66.0					4																	153896824		2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153896824G>C	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2381G>C	4.37:g.153896824G>C	ENSP00000427567:p.Arg794Thr						p.R794T	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			11	2456	+	all_hematologic(180;0.093)		794						Missense_Mutation	SNP	ENST00000511601.1	37	c.2381G>C	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.355285	0.01256	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.29917	1.55;1.55	4.83	0.417	0.16421	.	1.798690	0.02810	N	0.124203	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.14023	0.01	T	0.17745	-1.0359	10	0.11485	T	0.65	.	6.5442	0.22397	0.2008:0.3912:0.408:0.0	.	794	Q9C0D6	FHDC1_HUMAN	T	794	ENSP00000427567:R794T;ENSP00000260008:R794T	ENSP00000260008:R794T	R	+	2	0	FHDC1	154116274	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.035000	0.12205	0.021000	0.15133	-0.300000	0.09419	AGA		0.607	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		17	112	0	0	0	0.007413	0	17	112				
TLR2	7097	broad.mit.edu	37	4	154624696	154624696	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:154624696C>T	ENST00000260010.6	+	1	2045	c.637C>T	c.(637-639)Ctg>Ttg	p.L213L		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	213					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|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 oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|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)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.L213L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	GCATATTTTACTGCTGGAGAT	0.378																																							uc003inq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(637-639)CTG>TTG		toll-like receptor 2 precursor							92.0	91.0	91.0					4																	154624696		2203	4300	6503	SO:0001819	synonymous_variant	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154624696C>T	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.637C>T	4.37:g.154624696C>T						TLR2_uc003inr.2_Silent_p.L213L|TLR2_uc003ins.2_Silent_p.L213L	p.L213L	NM_003264	NP_003255	O60603	TLR2_HUMAN			3	856	+	all_hematologic(180;0.093)	Renal(120;0.117)	213			Extracellular (Potential).		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Silent	SNP	ENST00000260010.6	37	c.637C>T	CCDS3784.1																																																																																				0.378	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			13	76	0	0	0	0.00245	0	13	76				
DCHS2	54798	broad.mit.edu	37	4	155278470	155278470	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:155278470T>C	ENST00000357232.4	-	6	700	c.701A>G	c.(700-702)tAt>tGt	p.Y234C	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	234	Cadherin 2. {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.Y234C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ctctggactatagagtcctaa	0.428																																							uc003inw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(700-702)TAT>TGT		dachsous 2 isoform 1							71.0	74.0	73.0					4																	155278470		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155278470T>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.701A>G	4.37:g.155278470T>C	ENSP00000349768:p.Tyr234Cys					DCHS2_uc003inx.2_Intron	p.Y234C	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	6	701	-	all_hematologic(180;0.208)	Renal(120;0.0854)	234			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.701A>G	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	0.305	-0.971224	0.02232	.	.	ENSG00000197410	ENST00000357232	T	0.54071	0.59	0.149	0.149	0.14863	Cadherin (1);	11.598300	0.00738	U	0.000988	T	0.33469	0.0864	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33650	-0.9860	9	0.87932	D	0	.	.	.	.	.	234	Q6V1P9	PCD23_HUMAN	C	234	ENSP00000349768:Y234C	ENSP00000349768:Y234C	Y	-	2	0	DCHS2	155497920	0.048000	0.20356	0.019000	0.16419	0.034000	0.12701	0.285000	0.18883	0.166000	0.19597	0.164000	0.16699	TAT		0.428	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		4	59	0	0	0	0.000602	0	4	59				
NPY2R	4887	broad.mit.edu	37	4	156135639	156135639	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:156135639T>A	ENST00000329476.3	+	2	1037	c.548T>A	c.(547-549)cTg>cAg	p.L183Q	NPY2R_ENST00000506608.1_Missense_Mutation_p.L183Q	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	183					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)	p.L183Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	GCAAGTCCCCTGGCCATCTTC	0.542																																							uc003ioq.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(547-549)CTG>CAG		neuropeptide Y receptor Y2							59.0	59.0	59.0					4																	156135639		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135639T>A	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.548T>A	4.37:g.156135639T>A	ENSP00000332591:p.Leu183Gln					NPY2R_uc003ior.2_Missense_Mutation_p.L183Q	p.L183Q	NM_000910	NP_000901	P49146	NPY2R_HUMAN			2	1043	+	all_hematologic(180;0.24)	Renal(120;0.0854)	183			Helical; Name=4; (Potential).		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.548T>A	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.734819	0.69189	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.37752	1.18;1.18	5.74	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	L	0.42686	1.345	0.80722	D	1	D	0.64830	0.994	P	0.58266	0.836	T	0.31586	-0.9938	10	0.45353	T	0.12	.	12.2774	0.54744	0.0:0.0:0.142:0.858	.	183	P49146	NPY2R_HUMAN	Q	183	ENSP00000332591:L183Q;ENSP00000426366:L183Q	ENSP00000332591:L183Q	L	+	2	0	NPY2R	156355089	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.139000	0.71728	0.978000	0.38470	0.523000	0.50628	CTG		0.542	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		6	60	0	0	0	0.001984	0	6	60				
GRIA2	2891	broad.mit.edu	37	4	158257770	158257770	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:158257770G>A	ENST00000264426.9	+	11	1994	c.1715G>A	c.(1714-1716)tGg>tAg	p.W572*	GRIA2_ENST00000507898.1_Nonsense_Mutation_p.W525*|GRIA2_ENST00000393815.2_Nonsense_Mutation_p.W525*|GRIA2_ENST00000296526.7_Nonsense_Mutation_p.W572*|GRIA2_ENST00000449365.1_Nonsense_Mutation_p.W525*	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	572					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.W572*(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CCCTACGAGTGGCACACTGAG	0.413																																							uc003ipm.3		NA																	2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(1714-1716)TGG>TAG		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						157.0	150.0	152.0					4																	158257770		2203	4300	6503	SO:0001587	stop_gained	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158257770G>A		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1715G>A	4.37:g.158257770G>A	ENSP00000264426:p.Trp572*					GRIA2_uc011cit.1_Nonsense_Mutation_p.W525*|GRIA2_uc003ipl.3_Nonsense_Mutation_p.W572*|GRIA2_uc003ipk.3_Nonsense_Mutation_p.W525*|GRIA2_uc010iqh.1_RNA	p.W572*	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	11	2174	+	all_hematologic(180;0.24)	Renal(120;0.0458)	572			Cytoplasmic (Potential).		A8MT92|I6L997|Q96FP6	Nonsense_Mutation	SNP	ENST00000264426.9	37	c.1715G>A	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	40	8.105230	0.98657	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6634	0.95882	0.0:0.0:1.0:0.0	.	.	.	.	X	525;525;572;572;525	.	ENSP00000264426:W572X	W	+	2	0	GRIA2	158477220	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.720000	0.93068	0.655000	0.94253	TGG		0.413	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			18	104	0	0	0	0.007413	0	18	104				
FSTL5	56884	broad.mit.edu	37	4	162459330	162459330	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:162459330C>A	ENST00000306100.5	-	10	1736	c.1300G>T	c.(1300-1302)Gct>Tct	p.A434S	FSTL5_ENST00000536695.1_Missense_Mutation_p.A433S|FSTL5_ENST00000379164.4_Missense_Mutation_p.A433S|FSTL5_ENST00000427802.2_Missense_Mutation_p.A433S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	434						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.A434S(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTCTTTCTAGCAGAGTCTTCC	0.398																																							uc003iqh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(1300-1302)GCT>TCT		follistatin-like 5 isoform a							248.0	229.0	235.0					4																	162459330		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162459330C>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1300G>T	4.37:g.162459330C>A	ENSP00000305334:p.Ala434Ser					FSTL5_uc003iqi.2_Missense_Mutation_p.A433S|FSTL5_uc010iqv.2_Missense_Mutation_p.A433S	p.A434S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	10	1736	-	all_hematologic(180;0.24)		434					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.1300G>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576352	0.86645	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.73152	-0.7;-0.68;-0.72;-0.68	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.79076	0.4385	M	0.66939	2.045	0.80722	D	1	D;B;B	0.60575	0.988;0.307;0.346	P;B;B	0.54759	0.76;0.077;0.064	T	0.79150	-0.1922	10	0.42905	T	0.14	.	18.027	0.89272	0.0:1.0:0.0:0.0	.	433;433;434	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	S	434;433;433;433	ENSP00000305334:A434S;ENSP00000368462:A433S;ENSP00000389270:A433S;ENSP00000440409:A433S	ENSP00000305334:A434S	A	-	1	0	FSTL5	162678780	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.398000	0.79919	2.545000	0.85829	0.563000	0.77884	GCT		0.398	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		29	222	1	0	2.42023e-17	0.003271	3.58048e-17	29	222				
PALLD	23022	broad.mit.edu	37	4	169632897	169632897	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:169632897G>A	ENST00000505667.1	+	10	1960	c.1787G>A	c.(1786-1788)aGg>aAg	p.R596K	PALLD_ENST00000261509.6_Missense_Mutation_p.R596K|PALLD_ENST00000512127.1_Missense_Mutation_p.R214K|PALLD_ENST00000335742.7_Missense_Mutation_p.R214K			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	596					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)	p.R596K(1)|p.R214K(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GGCCTGAGCAGGGCAGCCCTT	0.512									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1786-1788)AGG>AAG		palladin isoform 2							83.0	76.0	78.0					4																	169632897		2203	4300	6503	SO:0001583	missense	23022	Pancreatic_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169632897G>A	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1787G>A	4.37:g.169632897G>A	ENSP00000425556:p.Arg596Lys					PALLD_uc003iru.2_Missense_Mutation_p.R596K|PALLD_uc003irv.2_Missense_Mutation_p.R214K	p.R596K	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	10	1998	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	596					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.1787G>A	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	G	1.470	-0.560036	0.03967	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127	T;T;T;T	0.61627	0.11;0.09;0.38;0.12	5.69	1.93	0.25924	.	0.195274	0.24615	U	0.037020	T	0.30978	0.0782	N	0.16656	0.425	0.09310	N	0.999991	B;B;B	0.14438	0.01;0.001;0.01	B;B;B	0.08055	0.003;0.002;0.003	T	0.24368	-1.0162	10	0.05833	T	0.94	.	6.4643	0.21973	0.0:0.1508:0.1494:0.6998	.	596;214;596	B7ZMM5;B3KTG2;B2RTX2	.;.;.	K	596;214;596;214	ENSP00000261509:R596K;ENSP00000336735:R214K;ENSP00000425556:R596K;ENSP00000426947:R214K	ENSP00000261509:R596K	R	+	2	0	PALLD	169869472	0.162000	0.22906	0.675000	0.29917	0.023000	0.10783	0.560000	0.23500	0.097000	0.17492	-0.176000	0.13171	AGG		0.512	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		21	36	0	0	0	0.001882	0	21	36				
GALNTL6	442117	broad.mit.edu	37	4	173803979	173803979	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:173803979G>A	ENST00000506823.1	+	8	1619	c.962G>A	c.(961-963)cGg>cAg	p.R321Q	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R304Q	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	321	Catalytic subdomain B.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R321Q(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GCTGTGGATCGGAAATGGTTT	0.423																																							uc003isv.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(961-963)CGG>CAG		N-acetylgalactosaminyltransferase-like 6							185.0	193.0	190.0					4																	173803979		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173803979G>A		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.962G>A	4.37:g.173803979G>A	ENSP00000423313:p.Arg321Gln						p.R321Q	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			8	1698	+			321			Catalytic subdomain B.|Lumenal (Potential).		Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.962G>A	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	G	35	5.593268	0.96602	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.69306	-0.39;-0.39	5.46	5.46	0.80206	Glycosyl transferase, family 2 (1);	0.000000	0.56097	D	0.000024	D	0.88584	0.6476	H	0.97874	4.095	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	D	0.92515	0.6020	10	0.66056	D	0.02	.	19.2983	0.94132	0.0:0.0:1.0:0.0	.	321	Q49A17	GLTL6_HUMAN	Q	321;304	ENSP00000423313:R321Q;ENSP00000423827:R304Q	ENSP00000423313:R321Q	R	+	2	0	GALNTL6	174040554	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.624000	0.98398	2.567000	0.86603	0.462000	0.41574	CGG		0.423	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		33	154	0	0	0	0.009535	0	33	154				
FAT1	2195	broad.mit.edu	37	4	187540161	187540161	+	Missense_Mutation	SNP	C	C	A	rs373112377		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:187540161C>A	ENST00000441802.2	-	10	7788	c.7579G>T	c.(7579-7581)Gtt>Ttt	p.V2527F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2527	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2530F(1)|p.V2527F(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGTAAGTAACGTGACCATAA	0.408										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(7579-7581)GTT>TTT		FAT tumor suppressor 1 precursor							133.0	125.0	127.0					4																	187540161		1854	4090	5944	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540161C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7579G>T	4.37:g.187540161C>A	ENSP00000406229:p.Val2527Phe	HNSCC(5;0.00058)					p.V2527F	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	7767	-			2527			Extracellular (Potential).|Cadherin 23.			Missense_Mutation	SNP	ENST00000441802.2	37	c.7579G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437347	0.25900	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01871	4.59	5.09	-8.48	0.00935	Cadherin (4);Cadherin-like (1);	0.545986	0.20693	N	0.087433	T	0.03783	0.0107	M	0.86864	2.845	0.18873	N	0.999989	P	0.35174	0.488	B	0.40534	0.332	T	0.01720	-1.1288	10	0.62326	D	0.03	.	4.6831	0.12745	0.0967:0.3322:0.3945:0.1766	.	2527	Q14517	FAT1_HUMAN	F	2527;2529	ENSP00000406229:V2527F	ENSP00000260147:V2529F	V	-	1	0	FAT1	187777155	0.005000	0.15991	0.000000	0.03702	0.012000	0.07955	-0.050000	0.11904	-1.620000	0.01564	-0.312000	0.09012	GTT		0.408	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		21	125	1	0	3.62473e-10	0.001882	4.70342e-10	21	125				
SDHA	6389	broad.mit.edu	37	5	228396	228396	+	Missense_Mutation	SNP	G	G	C	rs1041946		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:228396G>C	ENST00000264932.6	+	6	833	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q|SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	240			E -> Q (in dbSNP:rs1041946).		cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.E240Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ACTGTGCATAGAGGACGGGTC	0.418									Familial Paragangliomas																														uc003jao.3		NA																	2	Substitution - Missense(2)		lung(1)|prostate(1)		0						c.(718-720)GAG>CAG		succinate dehydrogenase complex, subunit A,	Succinic acid(DB00139)						100.0	92.0	95.0					5																	228396		2203	4300	6503	SO:0001583	missense	6389	Familial_Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:228396G>C	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.718G>C	5.37:g.228396G>C	ENSP00000264932:p.Glu240Gln					SDHA_uc003jan.2_Missense_Mutation_p.E240Q|SDHA_uc011clv.1_Missense_Mutation_p.E240Q|SDHA_uc011clw.1_Missense_Mutation_p.E192Q|SDHA_uc003jap.3_Missense_Mutation_p.E240Q|SDHA_uc003jaq.3_Missense_Mutation_p.E15Q|SDHA_uc003jar.3_5'Flank	p.E240Q	NM_004168	NP_004159	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		6	833	+			240					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.718G>C	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	c	18.02	3.531241	0.64972	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.70399	-0.48;-0.48;-0.48	5.23	5.23	0.72850	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.063690	0.64402	U	0.000008	T	0.81973	0.4936	M	0.67397	2.05	0.80722	D	1	P;P;D;P;P	0.69078	0.494;0.614;0.997;0.605;0.605	P;P;D;B;B	0.65874	0.457;0.493;0.939;0.2;0.315	D	0.83437	0.0041	10	0.66056	D	0.02	.	16.7213	0.85410	0.0:0.0:1.0:0.0	rs1041946;rs3181411;rs17410941	192;240;240;240;246	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	Q	240;240;192	ENSP00000264932:E240Q;ENSP00000426514:E240Q;ENSP00000427703:E192Q	ENSP00000264932:E240Q	E	+	1	0	SDHA	281396	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	7.579000	0.82511	2.633000	0.89246	0.644000	0.83932	GAG		0.418	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		3	141	0	0	0	0.004672	0	3	141				
SLC9A3	6550	broad.mit.edu	37	5	476783	476783	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:476783C>T	ENST00000264938.3	-	12	1774	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.E580K|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	589					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.E589K(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CTGACATTTTCTCTCCTGCGT	0.667																																							uc003jbe.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1765-1767)GAA>AAA		solute carrier family 9 (sodium/hydrogen							50.0	43.0	46.0					5																	476783		2203	4300	6503	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:476783C>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1765G>A	5.37:g.476783C>T	ENSP00000264938:p.Glu589Lys					SLC9A3_uc011clx.1_Missense_Mutation_p.E580K|uc011cly.1_5'Flank	p.E589K	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		12	1877	-			589			Cytoplasmic (Potential).		B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1765G>A	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396220	0.62177	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.76709	-1.04;-1.04	4.56	4.56	0.56223	.	1.705140	0.03474	N	0.214143	T	0.82019	0.4946	M	0.77103	2.36	0.44736	D	0.997738	P;P	0.44627	0.839;0.651	B;B	0.38562	0.276;0.272	T	0.75164	-0.3414	10	0.51188	T	0.08	.	16.9225	0.86167	0.0:1.0:0.0:0.0	.	580;589	E9PF67;P48764	.;SL9A3_HUMAN	K	589;580	ENSP00000264938:E589K;ENSP00000422983:E580K	ENSP00000264938:E589K	E	-	1	0	SLC9A3	529783	1.000000	0.71417	0.996000	0.52242	0.032000	0.12392	5.075000	0.64407	2.099000	0.63709	0.561000	0.74099	GAA		0.667	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		4	56	0	0	0	0.001168	0	4	56				
NSUN2	54888	broad.mit.edu	37	5	6620303	6620303	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:6620303G>A	ENST00000264670.6	-	7	1042	c.731C>T	c.(730-732)tCc>tTc	p.S244F	NSUN2_ENST00000506139.1_Missense_Mutation_p.S209F|NSUN2_ENST00000539938.1_Missense_Mutation_p.S8F|NSUN2_ENST00000505264.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	244					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)	p.S244F(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						GGGTATGCTGGAGGCATCATG	0.493																																							uc003jdu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(730-732)TCC>TTC		NOL1/NOP2/Sun domain family, member 2							102.0	101.0	101.0					5																	6620303		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6620303G>A	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.731C>T	5.37:g.6620303G>A	ENSP00000264670:p.Ser244Phe					NSUN2_uc003jdt.2_Missense_Mutation_p.S8F|NSUN2_uc011cmk.1_Missense_Mutation_p.S209F|NSUN2_uc003jdv.2_Missense_Mutation_p.S8F	p.S244F	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			7	796	-			244					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.731C>T	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730152	0.69074	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.39229	1.09;3.06;1.12	6.02	6.02	0.97574	.	0.249390	0.49305	D	0.000156	T	0.67571	0.2907	M	0.76328	2.33	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.74023	0.963;0.982	T	0.68066	-0.5507	10	0.87932	D	0	-16.4551	20.5407	0.99260	0.0:0.0:1.0:0.0	.	209;244	B4DQW2;Q08J23	.;NSUN2_HUMAN	F	244;8;209	ENSP00000264670:S244F;ENSP00000444338:S8F;ENSP00000420957:S209F	ENSP00000264670:S244F	S	-	2	0	NSUN2	6673303	1.000000	0.71417	0.962000	0.40283	0.229000	0.25112	7.318000	0.79029	2.865000	0.98341	0.655000	0.94253	TCC		0.493	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		19	170	0	0	0	0.002299	0	19	170				
CTNND2	1501	broad.mit.edu	37	5	11199641	11199641	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:11199641G>T	ENST00000304623.8	-	11	2083	c.1894C>A	c.(1894-1896)Ctg>Atg	p.L632M	CTNND2_ENST00000503622.1_Missense_Mutation_p.L295M|CTNND2_ENST00000359640.2_Missense_Mutation_p.L632M|CTNND2_ENST00000511377.1_Missense_Mutation_p.L541M|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.L199M	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	632					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L632M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CAGTTTTTCAGGGCAATTTTG	0.507																																							uc003jfa.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1894-1896)CTG>ATG		catenin (cadherin-associated protein), delta 2							170.0	167.0	168.0					5																	11199641		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11199641G>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1894C>A	5.37:g.11199641G>T	ENSP00000307134:p.Leu632Met					CTNND2_uc010itt.2_Missense_Mutation_p.L541M|CTNND2_uc011cmy.1_Missense_Mutation_p.L295M|CTNND2_uc011cmz.1_Missense_Mutation_p.L199M|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.L199M	p.L632M	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			11	2039	-			632			ARM 4.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1894C>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217952	0.39201	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74596	0.3737	L	0.34521	1.04	0.52099	D	0.999949	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.67841	-0.5566	10	0.14252	T	0.57	-13.0816	14.2256	0.65858	0.0709:0.0:0.9291:0.0	.	295;199;632	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	M	632;632;541;199;295	ENSP00000307134:L632M;ENSP00000352661:L632M;ENSP00000426510:L541M;ENSP00000391155:L199M;ENSP00000426887:L295M	ENSP00000307134:L632M	L	-	1	2	CTNND2	11252641	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.490000	0.60319	2.722000	0.93159	0.655000	0.94253	CTG		0.507	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		122	130	1	0	5.58585e-45	0.00361	9.35609e-45	122	130				
CTNND2	1501	broad.mit.edu	37	5	11236895	11236895	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:11236895G>T	ENST00000304623.8	-	10	1858	c.1669C>A	c.(1669-1671)Cag>Aag	p.Q557K	CTNND2_ENST00000503622.1_Missense_Mutation_p.Q220K|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q557K|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q466K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.Q124K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	557					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q557K(1)|p.Q557E(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCAACATCTGAATCACTTCC	0.483																																							uc003jfa.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1669-1671)CAG>AAG		catenin (cadherin-associated protein), delta 2							116.0	114.0	115.0					5																	11236895		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11236895G>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1669C>A	5.37:g.11236895G>T	ENSP00000307134:p.Gln557Lys					CTNND2_uc010itt.2_Missense_Mutation_p.Q466K|CTNND2_uc011cmy.1_Missense_Mutation_p.Q220K|CTNND2_uc011cmz.1_Missense_Mutation_p.Q124K|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.Q124K	p.Q557K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			10	1814	-			557			ARM 2.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1669C>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.931996	0.73442	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55226	0.1907	L	0.38531	1.155	0.80722	D	1	D;D;D	0.54964	0.969;0.969;0.965	D;D;P	0.64877	0.93;0.93;0.829	T	0.40515	-0.9559	10	0.02654	T	1	-16.5153	20.0734	0.97734	0.0:0.0:1.0:0.0	.	220;124;557	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	K	557;557;466;124;220	ENSP00000307134:Q557K;ENSP00000352661:Q557K;ENSP00000426510:Q466K;ENSP00000391155:Q124K;ENSP00000426887:Q220K	ENSP00000307134:Q557K	Q	-	1	0	CTNND2	11289895	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	9.869000	0.99810	2.751000	0.94390	0.555000	0.69702	CAG		0.483	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		12	156	1	0	9.31168e-06	0.001855	1.06462e-05	12	156				
MARCH11	441061	broad.mit.edu	37	5	16091000	16091000	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:16091000A>G	ENST00000332432.8	-	3	1083	c.884T>C	c.(883-885)aTa>aCa	p.I295T	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	295					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.I295T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						GGTCTTACCTATGCACACTAG	0.433																																							uc003jfo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(883-885)ATA>ACA		membrane-associated ring finger (C3HC4) 11							90.0	88.0	89.0					5																	16091000		2010	4170	6180	SO:0001583	missense	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16091000A>G	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.884T>C	5.37:g.16091000A>G	ENSP00000333181:p.Ile295Thr					MARCH11_uc010itw.1_Missense_Mutation_p.I51T	p.I295T	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN			3	1097	-			295			Helical; (Potential).		A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	37	c.884T>C	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.397311	0.83120	.	.	ENSG00000183654	ENST00000332432	T	0.61510	0.1	5.54	5.54	0.83059	.	0.097992	0.64402	D	0.000002	T	0.72676	0.3490	M	0.61703	1.905	0.58432	D	0.999999	D	0.71674	0.998	D	0.67900	0.954	T	0.75935	-0.3142	10	0.87932	D	0	-12.6526	15.6674	0.77242	1.0:0.0:0.0:0.0	.	295	A6NNE9	MARHB_HUMAN	T	295	ENSP00000333181:I295T	ENSP00000333181:I295T	I	-	2	0	MARCH11	16144000	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.116000	0.64780	0.533000	0.62120	ATA		0.433	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		11	32	0	0	0	0.003163	0	11	32				
CDH18	1016	broad.mit.edu	37	5	19838966	19838966	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:19838966C>T	ENST00000507958.1	-	5	1120	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	CDH18_ENST00000506372.1_Missense_Mutation_p.E44K|CDH18_ENST00000382275.1_Missense_Mutation_p.E44K|CDH18_ENST00000502796.1_Missense_Mutation_p.E44K|CDH18_ENST00000274170.4_Missense_Mutation_p.E44K|CDH18_ENST00000511273.1_Missense_Mutation_p.E44K			Q13634	CAD18_HUMAN	cadherin 18, type 2	44					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E44K(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACTTCGGTTTCACCTTCAATG	0.448																																							uc003jgc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(130-132)GAA>AAA		cadherin 18, type 2 preproprotein							223.0	184.0	197.0					5																	19838966		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19838966C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.130G>A	5.37:g.19838966C>T	ENSP00000425093:p.Glu44Lys					CDH18_uc003jgd.2_Missense_Mutation_p.E44K|CDH18_uc011cnm.1_Missense_Mutation_p.E44K	p.E44K	NM_004934	NP_004925	Q13634	CAD18_HUMAN			2	507	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		44					A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.130G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727038	0.69074	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.23727	0.0574	N	0.22421	0.69	0.53005	D	0.999967	B;B	0.20671	0.047;0.013	B;B	0.15870	0.014;0.004	T	0.05146	-1.0903	9	.	.	.	.	18.9006	0.92440	0.0:1.0:0.0:0.0	.	44;44	B4DHG6;Q13634	.;CAD18_HUMAN	K	44	ENSP00000371710:E44K;ENSP00000425093:E44K;ENSP00000274170:E44K;ENSP00000424931:E44K;ENSP00000422138:E44K;ENSP00000425854:E44K	.	E	-	1	0	CDH18	19874723	1.000000	0.71417	0.964000	0.40570	0.957000	0.61999	5.684000	0.68197	2.805000	0.96524	0.655000	0.94253	GAA		0.448	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		4	83	0	0	0	0.000602	0	4	83				
PRDM9	56979	broad.mit.edu	37	5	23527537	23527537	+	Missense_Mutation	SNP	G	G	T	rs553295911		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:23527537G>T	ENST00000296682.3	+	11	2522	c.2340G>T	c.(2338-2340)gaG>gaT	p.E780D		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	780					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.E780D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCTGCAGGGAGTGTGGGCGGG	0.582										HNSCC(3;0.000094)																													uc003jgo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2338-2340)GAG>GAT		PR domain containing 9							80.0	78.0	79.0					5																	23527537		2186	4292	6478	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527537G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2340G>T	5.37:g.23527537G>T	ENSP00000296682:p.Glu780Asp	HNSCC(3;0.000094)					p.E780D	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2522	+			780			C2H2-type 11.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2340G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	4.115	0.019457	0.08006	.	.	ENSG00000164256	ENST00000296682	T	0.32988	1.43	2.92	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17323	0.0416	N	0.17474	0.49	0.22896	N	0.998595	P	0.35821	0.523	B	0.36666	0.23	T	0.16188	-1.0411	9	0.44086	T	0.13	.	5.2552	0.15544	0.4121:0.0:0.5879:0.0	.	780	Q9NQV7	PRDM9_HUMAN	D	780	ENSP00000296682:E780D	ENSP00000296682:E780D	E	+	3	2	PRDM9	23563294	0.000000	0.05858	0.997000	0.53966	0.030000	0.12068	-1.727000	0.01860	0.283000	0.22279	0.478000	0.44815	GAG		0.582	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		81	142	1	0	1.14225e-51	0.00361	1.91919e-51	81	142				
CDH10	1008	broad.mit.edu	37	5	24488132	24488132	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:24488132G>T	ENST00000264463.4	-	12	2514	c.2007C>A	c.(2005-2007)gcC>gcA	p.A669A	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	669					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A669A(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CGATATCAAAGGCCTGGGTGT	0.463										HNSCC(23;0.051)																													uc003jgr.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(2005-2007)GCC>GCA		cadherin 10, type 2 preproprotein							63.0	65.0	65.0					5																	24488132		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488132G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2007C>A	5.37:g.24488132G>T		HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.A669A	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2339	-			669			Cytoplasmic (Potential).		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.2007C>A	CCDS3892.1																																																																																				0.463	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		60	39	1	0	2.05175e-36	0.00361	3.40484e-36	60	39				
CDH10	1008	broad.mit.edu	37	5	24537495	24537495	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:24537495C>G	ENST00000264463.4	-	3	1027	c.520G>C	c.(520-522)Gtt>Ctt	p.V174L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	174	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V174L(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTACCTACAACAGACATTTCG	0.323										HNSCC(23;0.051)																													uc003jgr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(520-522)GTT>CTT		cadherin 10, type 2 preproprotein							125.0	131.0	129.0					5																	24537495		2203	4299	6502	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537495C>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.520G>C	5.37:g.24537495C>G	ENSP00000264463:p.Val174Leu	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.V174L	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	852	-			174			Cadherin 2.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.520G>C	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777237	0.31411	.	.	ENSG00000040731	ENST00000264463	T	0.50548	0.74	5.72	4.84	0.62591	Cadherin (4);Cadherin-like (1);	0.111408	0.56097	N	0.000024	T	0.30103	0.0754	N	0.04820	-0.15	0.38092	D	0.936995	B	0.09022	0.002	B	0.12156	0.007	T	0.11567	-1.0582	10	0.49607	T	0.09	.	15.7334	0.77822	0.0:0.8631:0.1369:0.0	.	174	Q9Y6N8	CAD10_HUMAN	L	174	ENSP00000264463:V174L	ENSP00000264463:V174L	V	-	1	0	CDH10	24573252	0.952000	0.32445	0.969000	0.41365	0.581000	0.36288	2.155000	0.42301	1.380000	0.46344	0.557000	0.71058	GTT		0.323	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		28	183	0	0	0	0.002096	0	28	183				
ADAMTS12	81792	broad.mit.edu	37	5	33535001	33535001	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:33535001C>A	ENST00000504830.1	-	23	4878	c.4543G>T	c.(4543-4545)Gat>Tat	p.D1515Y	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D1430Y	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1515	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D1515Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGTTTGTGATCACATAGACAT	0.488										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4543-4545)GAT>TAT		ADAM metallopeptidase with thrombospondin type 1							161.0	149.0	153.0					5																	33535001		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33535001C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4543G>T	5.37:g.33535001C>A	ENSP00000422554:p.Asp1515Tyr	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.D1430Y	p.D1515Y	NM_030955	NP_112217	P58397	ATS12_HUMAN			23	4706	-			1515			TSP type-1 8.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4543G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366789	0.61513	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.61510	0.1;0.1	5.13	5.13	0.70059	.	0.230134	0.44688	D	0.000429	T	0.78553	0.4301	M	0.88906	2.99	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69824	0.943;0.966	T	0.82059	-0.0645	10	0.59425	D	0.04	.	14.4467	0.67356	0.0:1.0:0.0:0.0	.	1430;1515	P58397-3;P58397	.;ATS12_HUMAN	Y	1515;1430	ENSP00000422554:D1515Y;ENSP00000344847:D1430Y	ENSP00000344847:D1430Y	D	-	1	0	ADAMTS12	33570758	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	2.645000	0.46621	2.551000	0.86045	0.563000	0.77884	GAT		0.488	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		14	114	1	0	9.05144e-12	0.001855	1.23397e-11	14	114				
SPEF2	79925	broad.mit.edu	37	5	35795874	35795874	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:35795874A>T	ENST00000356031.3	+	33	4961	c.4807A>T	c.(4807-4809)Aat>Tat	p.N1603Y	SPEF2_ENST00000303129.4_Missense_Mutation_p.N400Y|SPEF2_ENST00000440995.2_Missense_Mutation_p.N1598Y|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1603					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.N1603Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTTCCATTTAATAGGCAGGA	0.323																																							uc003jjo.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(4807-4809)AAT>TAT		KPL2 protein isoform 1							106.0	103.0	104.0					5																	35795874		1818	4088	5906	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35795874A>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4807A>T	5.37:g.35795874A>T	ENSP00000348314:p.Asn1603Tyr					SPEF2_uc003jjp.1_Missense_Mutation_p.N1089Y|SPEF2_uc003jjr.2_Missense_Mutation_p.N658Y	p.N1603Y	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		33	4918	+	all_lung(31;7.56e-05)		1603					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.4807A>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.952859	0.53293	.	.	ENSG00000152582	ENST00000356031;ENST00000440995;ENST00000303129	T;T;T	0.63417	-0.04;-0.04;-0.04	5.52	4.34	0.51931	.	0.217976	0.46145	D	0.000310	T	0.74298	0.3698	M	0.69823	2.125	0.33400	D	0.577217	D;D;P	0.64830	0.994;0.96;0.933	P;P;B	0.62298	0.9;0.504;0.307	T	0.82544	-0.0404	10	0.66056	D	0.02	.	12.0392	0.53444	0.8553:0.1447:0.0:0.0	.	400;1598;1603	Q9C093-4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	Y	1603;1598;400	ENSP00000348314:N1603Y;ENSP00000412125:N1598Y;ENSP00000303843:N400Y	ENSP00000303843:N400Y	N	+	1	0	SPEF2	35831631	1.000000	0.71417	0.999000	0.59377	0.620000	0.37586	3.485000	0.53208	1.007000	0.39238	0.383000	0.25322	AAT		0.323	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		18	277	0	0	0	0.001882	0	18	277				
LIFR	3977	broad.mit.edu	37	5	38523600	38523600	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:38523600C>T	ENST00000263409.4	-	5	644	c.482G>A	c.(481-483)gGt>gAt	p.G161D	LIFR_ENST00000453190.2_Missense_Mutation_p.G161D|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	161					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.G161D(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAAAACTGAACCCCTGTCGTT	0.358			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	Melanoma(13;4 730 6426 9861 34751)	uc010ive.1		NA		Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(481-483)GGT>GAT		leukemia inhibitory factor receptor precursor							88.0	95.0	92.0					5																	38523600		2203	4299	6502	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38523600C>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.482G>A	5.37:g.38523600C>T	ENSP00000263409:p.Gly161Asp					LIFR_uc003jli.2_Missense_Mutation_p.G161D	p.G161D	NM_001127671	NP_001121143	P42702	LIFR_HUMAN			5	814	-	all_lung(31;0.00021)		161			Extracellular (Potential).		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.482G>A	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968175	0.74131	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.64991	-0.13;-0.13	5.53	5.53	0.82687	Immunoglobulin-like fold (1);	0.495642	0.24020	N	0.042282	T	0.75781	0.3896	L	0.58669	1.825	0.48632	D	0.999683	D	0.89917	1.0	D	0.85130	0.997	T	0.76096	-0.3084	10	0.54805	T	0.06	-13.0843	14.9587	0.71138	0.0:1.0:0.0:0.0	.	161	P42702	LIFR_HUMAN	D	161	ENSP00000263409:G161D;ENSP00000398368:G161D	ENSP00000263409:G161D	G	-	2	0	LIFR	38559357	0.662000	0.27439	0.960000	0.40013	0.855000	0.48748	4.097000	0.57741	2.579000	0.87056	0.655000	0.94253	GGT		0.358	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		11	117	0	0	0	0.000978	0	11	117				
GHR	2690	broad.mit.edu	37	5	42718755	42718755	+	Silent	SNP	C	C	A	rs533441671		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:42718755C>A	ENST00000230882.4	+	10	1336	c.1146C>A	c.(1144-1146)ggC>ggA	p.G382G	GHR_ENST00000537449.1_Silent_p.G195G|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Silent_p.G360G	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	382					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.G382G(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGAAGGATGGCGACTCTGGAC	0.463																																							uc003jmt.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|kidney(1)|skin(1)	6						c.(1144-1146)GGC>GGA		growth hormone receptor precursor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						154.0	120.0	132.0					5																	42718755		2203	4300	6503	SO:0001819	synonymous_variant	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42718755C>A		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1146C>A	5.37:g.42718755C>A						GHR_uc011cpq.1_Silent_p.G195G	p.G382G	NM_000163	NP_000154	P10912	GHR_HUMAN			10	1189	+		Myeloproliferative disorder(839;0.00878)	382			Cytoplasmic (Potential).		Q9HCX2	Silent	SNP	ENST00000230882.4	37	c.1146C>A	CCDS3940.1																																																																																				0.463	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		18	154	1	0	6.49762e-13	0.006122	8.98323e-13	18	154				
MRPS30	10884	broad.mit.edu	37	5	44815242	44815242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:44815242C>T	ENST00000507110.1	+	5	1296	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	420					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.Q420*(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TGTTCTACTTCAGATAGTTCA	0.318																																							uc003joh.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(1258-1260)CAG>TAG		mitochondrial ribosomal protein S30							58.0	58.0	58.0					5																	44815242		2203	4300	6503	SO:0001587	stop_gained	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44815242C>T	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.1258C>T	5.37:g.44815242C>T	ENSP00000424328:p.Gln420*						p.Q420*	NM_016640	NP_057724	Q9NP92	RT30_HUMAN			5	1296	+	Lung NSC(6;8.08e-07)		420					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Nonsense_Mutation	SNP	ENST00000507110.1	37	c.1258C>T	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	C	36	5.636409	0.96693	.	.	ENSG00000112996	ENST00000507110	.	.	.	5.86	4.97	0.65823	.	0.182863	0.51477	D	0.000093	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-8.6202	16.7785	0.85558	0.0:0.871:0.129:0.0	.	.	.	.	X	420	.	ENSP00000424328:Q420X	Q	+	1	0	MRPS30	44850999	1.000000	0.71417	0.970000	0.41538	0.866000	0.49608	3.061000	0.49963	1.420000	0.47138	0.650000	0.86243	CAG		0.318	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		4	34	0	0	0	0.000602	0	4	34				
ANKRD55	79722	broad.mit.edu	37	5	55455694	55455694	+	Nonsense_Mutation	SNP	G	G	T	rs376013990		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:55455694G>T	ENST00000341048.4	-	6	600	c.449C>A	c.(448-450)tCg>tAg	p.S150*	ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Nonsense_Mutation_p.S150*|ANKRD55_ENST00000513241.2_Nonsense_Mutation_p.S121*	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	150								p.S150*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GCTGATGTTCGACTGTTGCAA	0.463																																							uc003jqu.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(448-450)TCG>TAG		ankyrin repeat domain 55 isoform 1							150.0	131.0	137.0					5																	55455694		2203	4300	6503	SO:0001587	stop_gained	79722							g.chr5:55455694G>T	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.449C>A	5.37:g.55455694G>T	ENSP00000342295:p.Ser150*						p.S150*	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN			6	601	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	149			ANK 4.		B3KVT8|Q3KP45|Q9HAD3	Nonsense_Mutation	SNP	ENST00000341048.4	37	c.449C>A	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795503	0.90453	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000513241;ENST00000519586	.	.	.	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	14.9086	0.70737	0.0:0.0:1.0:0.0	.	.	.	.	X	150;150;150;121;150	.	ENSP00000342295:S150X	S	-	2	0	ANKRD55	55491451	1.000000	0.71417	0.963000	0.40424	0.452000	0.32318	4.272000	0.58908	2.654000	0.90174	0.650000	0.86243	TCG		0.463	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		13	255	1	0	1.5842e-08	0.001855	1.99554e-08	13	255				
FAM169A	26049	broad.mit.edu	37	5	74130338	74130338	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:74130338G>T	ENST00000389156.4	-	5	493	c.403C>A	c.(403-405)Cca>Aca	p.P135T	FAM169A_ENST00000380515.3_Intron|FAM169A_ENST00000510496.1_Missense_Mutation_p.P135T	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	135						membrane (GO:0016020)|nucleus (GO:0005634)		p.P135T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						CACAGGAATGGGATCTCATTT	0.398																																							uc003kdm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(403-405)CCA>ACA		hypothetical protein LOC26049							133.0	122.0	125.0					5																	74130338		1856	4089	5945	SO:0001583	missense	26049							g.chr5:74130338G>T		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.403C>A	5.37:g.74130338G>T	ENSP00000373808:p.Pro135Thr					FAM169A_uc010izm.2_Missense_Mutation_p.P135T|FAM169A_uc003kdl.2_Intron	p.P135T	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN			5	446	-			135					A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	37	c.403C>A	CCDS43330.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883080	0.72410	.	.	ENSG00000198780	ENST00000389156;ENST00000510496;ENST00000513277;ENST00000514200	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.88	5.88	0.94601	.	0.218721	0.32244	N	0.006362	T	0.64283	0.2584	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.62973	-0.6740	10	0.62326	D	0.03	-5.566	20.2187	0.98312	0.0:0.0:1.0:0.0	.	135;135	D6RB01;Q9Y6X4	.;F169A_HUMAN	T	135	ENSP00000373808:P135T;ENSP00000424578:P135T;ENSP00000423631:P135T;ENSP00000423883:P135T	ENSP00000373808:P135T	P	-	1	0	FAM169A	74166094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.585000	0.90802	2.780000	0.95670	0.655000	0.94253	CCA		0.398	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2			17	27	1	0	2.94398e-08	0.007413	3.67401e-08	17	27				
IQGAP2	10788	broad.mit.edu	37	5	75885525	75885525	+	Silent	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:75885525C>G	ENST00000274364.6	+	7	909	c.612C>G	c.(610-612)gcC>gcG	p.A204A	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	204					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.A204A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GTATTCTGGCCAATGAACTGT	0.368																																							uc003kek.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.(610-612)GCC>GCG		IQ motif containing GTPase activating protein 2							83.0	79.0	81.0					5																	75885525		2203	4300	6503	SO:0001819	synonymous_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75885525C>G	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.612C>G	5.37:g.75885525C>G							p.A204A	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	7	834	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	204					A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	c.612C>G	CCDS34188.1																																																																																				0.368	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		3	15	0	0	0	0.004672	0	3	15				
LVRN	206338	broad.mit.edu	37	5	115335573	115335573	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:115335573C>G	ENST00000357872.4	+	7	1613	c.1489C>G	c.(1489-1491)Ctc>Gtc	p.L497V	AQPEP_ENST00000395528.2_Missense_Mutation_p.L14V	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		497						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L497V(1)									AATACAGGAACTCTTTGACAT	0.368																																							uc003kro.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1489-1491)CTC>GTC		laeverin							85.0	85.0	85.0					5																	115335573		2202	4300	6502	SO:0001583	missense	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115335573C>G																												ENST00000357872.4:c.1489C>G	5.37:g.115335573C>G	ENSP00000350541:p.Leu497Val					AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	p.L497V	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN			7	1653	+			497			Lumenal (Potential).		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.1489C>G	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	C	3.774	-0.047045	0.07407	.	.	ENSG00000172901	ENST00000395528;ENST00000357872;ENST00000379578	T;T	0.05025	3.51;4.23	5.77	3.96	0.45880	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.305534	0.26915	N	0.021855	T	0.08044	0.0201	L	0.46885	1.475	0.25566	N	0.986947	P	0.38300	0.626	B	0.43809	0.432	T	0.20505	-1.0273	10	0.13470	T	0.59	.	9.1732	0.37096	0.2974:0.559:0.1437:0.0	.	497	Q6Q4G3	AMPQ_HUMAN	V	14;497;486	ENSP00000378899:L14V;ENSP00000350541:L497V	ENSP00000350541:L497V	L	+	1	0	AC010282.1	115363472	0.174000	0.23070	0.257000	0.24404	0.005000	0.04900	0.597000	0.24059	0.864000	0.35578	0.655000	0.94253	CTC		0.368	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			29	78	0	0	0	0.003271	0	29	78				
FBN2	2201	broad.mit.edu	37	5	127800495	127800495	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:127800495G>T	ENST00000508053.1	-	12	1722	c.748C>A	c.(748-750)Ccc>Acc	p.P250T	FBN2_ENST00000262464.4_Missense_Mutation_p.P250T|FBN2_ENST00000508989.1_Missense_Mutation_p.P217T			P35556	FBN2_HUMAN	fibrillin 2	250	TB 1.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P250T(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATCTCACAGGGATGGCCCCAC	0.597																																							uc003kuu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(748-750)CCC>ACC		fibrillin 2 precursor							91.0	84.0	86.0					5																	127800495		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127800495G>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.748C>A	5.37:g.127800495G>T	ENSP00000424571:p.Pro250Thr					FBN2_uc003kuv.2_Missense_Mutation_p.P217T|FBN2_uc003kuw.3_Missense_Mutation_p.P250T|FBN2_uc003kux.1_Missense_Mutation_p.P250T	p.P250T	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	6	1187	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	250			TB 1.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.748C>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153329	0.78114	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;D	0.93906	-2.2;-2.2;-3.31;-3.31	4.82	4.82	0.62117	Matrix fibril-associated (3);TGF-beta binding (1);	0.081704	0.50627	D	0.000103	D	0.96021	0.8704	M	0.65498	2.005	0.58432	D	0.999996	D;D;P;P	0.60160	0.965;0.987;0.895;0.749	P;D;P;P	0.67103	0.719;0.949;0.703;0.575	D	0.95889	0.8905	10	0.54805	T	0.06	.	18.7725	0.91898	0.0:0.0:1.0:0.0	.	217;250;217;250	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	T	250;250;217;250	ENSP00000262464:P250T;ENSP00000424571:P250T;ENSP00000425596:P217T;ENSP00000424753:P250T	ENSP00000262464:P250T	P	-	1	0	FBN2	127828394	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.871000	0.87180	2.608000	0.88229	0.484000	0.47621	CCC		0.597	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		26	80	1	0	1.75199e-13	0.007291	2.4505e-13	26	80				
SEPT8	23176	broad.mit.edu	37	5	132100012	132100012	+	Missense_Mutation	SNP	C	C	A	rs76417071	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:132100012C>A	ENST00000378719.2	-	3	488	c.251G>T	c.(250-252)cGg>cTg	p.R84L	SEPT8_ENST00000378721.4_Missense_Mutation_p.R84L|SEPT8_ENST00000458488.2_Missense_Mutation_p.R84L|SEPT8_ENST00000296873.7_Missense_Mutation_p.R84L|SEPT8_ENST00000378706.1_Missense_Mutation_p.R84L|SEPT8_ENST00000378701.1_Missense_Mutation_p.R84L|SEPT8_ENST00000448933.1_Missense_Mutation_p.R24L|SEPT8_ENST00000378699.2_Missense_Mutation_p.R24L	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	84	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.R84L(1)	SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTCTGGGGCCGCAGGCGCAC	0.562																																							uc003kxr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(250-252)CGG>CTG		septin 8 isoform a							88.0	96.0	93.0					5																	132100012		2155	4270	6425	SO:0001583	missense	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132100012C>A	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.251G>T	5.37:g.132100012C>A	ENSP00000367991:p.Arg84Leu					SEPT8_uc003kxs.1_Missense_Mutation_p.R84L|SEPT8_uc003kxu.2_Missense_Mutation_p.R84L|SEPT8_uc011cxi.1_Missense_Mutation_p.R84L|SEPT8_uc003kxv.2_Missense_Mutation_p.R84L|SEPT8_uc003kxt.2_Missense_Mutation_p.R24L	p.R84L	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	489	-		all_cancers(142;0.0751)|Breast(839;0.198)	84					A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	c.251G>T	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124862	0.56613	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488;ENST00000453480;ENST00000414594;ENST00000371493	T;T;T;T;T;T;T;T;T;T;T	0.51817	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;0.69;0.69	4.77	2.97	0.34412	.	0.141569	0.47852	D	0.000205	T	0.46946	0.1419	L	0.59436	1.845	0.58432	D	0.999994	P;P;B;P	0.47484	0.772;0.896;0.129;0.772	P;P;B;P	0.45310	0.476;0.476;0.079;0.476	T	0.51172	-0.8739	10	0.72032	D	0.01	.	10.4619	0.44585	0.0:0.8411:0.0:0.1589	.	84;84;84;84	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	L	84;84;84;24;84;24;84;84;24;24;24	ENSP00000367991:R84L;ENSP00000367993:R84L;ENSP00000296873:R84L;ENSP00000399840:R24L;ENSP00000367978:R84L;ENSP00000367971:R24L;ENSP00000367973:R84L;ENSP00000394766:R84L;ENSP00000407421:R24L;ENSP00000411823:R24L;ENSP00000360548:R24L	ENSP00000296873:R84L	R	-	2	0	SEPT8	132127911	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	2.008000	0.40893	1.000000	0.39049	0.467000	0.42956	CGG		0.562	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		11	48	1	0	2.68362e-12	0.001368	3.67717e-12	11	48				
DDX46	9879	broad.mit.edu	37	5	134126186	134126186	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:134126186A>T	ENST00000354283.4	+	13	1705	c.1570A>T	c.(1570-1572)Aca>Tca	p.T524S	DDX46_ENST00000452510.2_Missense_Mutation_p.T524S|DDX46_ENST00000509178.1_3'UTR			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	524	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.T524S(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCGAAGAGTGACATATGTTGT	0.308																																					Colon(13;391 453 4901 21675 24897)	Colon(13;391 453 4901 21675 24897)	uc003kzw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1570-1572)ACA>TCA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							85.0	84.0	85.0					5																	134126186		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134126186A>T		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1570A>T	5.37:g.134126186A>T	ENSP00000346236:p.Thr524Ser					DDX46_uc003kzv.1_RNA	p.T524S	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		13	1738	+			524			Helicase ATP-binding.		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.1570A>T	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905560	0.72868	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.13657	2.57;2.57	5.89	5.89	0.94794	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.091304	0.85682	D	0.000000	T	0.16811	0.0404	N	0.10629	0.01	0.80722	D	1	D	0.55800	0.973	P	0.57720	0.826	T	0.18840	-1.0324	10	0.51188	T	0.08	-18.7704	16.2912	0.82752	1.0:0.0:0.0:0.0	.	524	Q7L014	DDX46_HUMAN	S	524	ENSP00000416534:T524S;ENSP00000346236:T524S	ENSP00000346236:T524S	T	+	1	0	DDX46	134154085	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.339000	0.96797	2.251000	0.74343	0.482000	0.46254	ACA		0.308	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		20	56	0	0	0	0.010504	0	20	56				
ANKHD1	54882	broad.mit.edu	37	5	139908217	139908217	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:139908217G>T	ENST00000360839.2	+	29	5840	c.5686G>T	c.(5686-5688)Gtg>Ttg	p.V1896L	SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000544120.1_Missense_Mutation_p.V279L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.V1896L|ANKHD1_ENST00000297183.6_Missense_Mutation_p.V1896L	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1896						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V1896L(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGAGACCTGTGAATCCTGG	0.498																																							uc003lfs.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)	6						c.(5686-5688)GTG>TTG		ANKHD1-EIF4EBP3 protein							101.0	89.0	93.0					5																	139908217		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139908217G>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5686G>T	5.37:g.139908217G>T	ENSP00000354085:p.Val1896Leu					ANKHD1_uc003lfr.2_Missense_Mutation_p.V1896L|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.V635L|ANKHD1_uc003lfw.2_Missense_Mutation_p.V534L|ANKHD1_uc010jfl.2_Missense_Mutation_p.V331L|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.V33L	p.V1896L	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	5810	+			1896					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.5686G>T	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.11|13.11	2.140626|2.140626	0.37825|0.37825	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000435794;ENST00000432301|ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219	.|T;T;T;T;T;T	.|0.65916	.|-0.14;-0.18;1.9;1.92;1.5;-0.18	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67804|0.67804	0.2932|0.2932	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.69078	.|0.995;0.984;0.997;0.984;0.984;0.984	.|D;D;D;D;D;D	.|0.78314	.|0.98;0.967;0.991;0.967;0.956;0.956	T|T	0.59451|0.59451	-0.7452|-0.7452	5|10	.|0.07644	.|T	.|0.81	.|.	18.452|18.452	0.90707|0.90707	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|279;326;279;1896;1896;1896	.|Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3	.|.;.;.;.;.;ANKH1_HUMAN	F|L	386;346|1896;1896;1896;552;331;418;279;1896	.|ENSP00000354085:V1896L;ENSP00000297183:V1896L;ENSP00000393204:V552L;ENSP00000390034:V418L;ENSP00000437687:V279L;ENSP00000432016:V1896L	.|ENSP00000432016:V1896L	C|V	+|+	2|1	0|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139888401|139888401	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.263000|9.263000	0.95617|0.95617	2.595000|2.595000	0.87683|0.87683	0.650000|0.650000	0.86243|0.86243	TGT|GTG		0.498	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		21	73	1	0	3.62473e-10	0.001882	4.70342e-10	21	73				
PCDHA1	56147	broad.mit.edu	37	5	140168129	140168129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140168129C>T	ENST00000504120.2	+	1	2254	c.2254C>T	c.(2254-2256)Cag>Tag	p.Q752*	PCDHA1_ENST00000378133.3_Nonsense_Mutation_p.Q752*|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	752	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q752*(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCGAACTCACAGCAGAGGCG	0.642																																							uc003lhb.2		NA																	2	Substitution - Nonsense(2)		lung(2)	skin(1)	1						c.(2254-2256)CAG>TAG		protocadherin alpha 1 isoform 1 precursor							41.0	39.0	39.0					5																	140168129		2203	4300	6503	SO:0001587	stop_gained	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140168129C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2254C>T	5.37:g.140168129C>T	ENSP00000420840:p.Gln752*					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Nonsense_Mutation_p.Q752*	p.Q752*	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2254	+			752			Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.		O75288|Q9NRT7	Nonsense_Mutation	SNP	ENST00000504120.2	37	c.2254C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	16.02	3.003041	0.54254	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	.	.	.	4.16	3.28	0.37604	.	0.557687	0.14001	U	0.348083	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.7141	0.28694	0.1617:0.7495:0.0:0.0888	.	.	.	.	X	752	.	ENSP00000367373:Q752X	Q	+	1	0	PCDHA1	140148313	0.014000	0.17966	0.624000	0.29186	0.024000	0.10985	1.725000	0.38074	0.877000	0.35895	0.644000	0.83932	CAG		0.642	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		11	22	0	0	0	0.008291	0	11	22				
PCDHA10	56139	broad.mit.edu	37	5	140237095	140237095	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140237095C>A	ENST00000307360.5	+	1	1462	c.1462C>A	c.(1462-1464)Ctg>Atg	p.L488M	PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.L488M|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	488	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L488M(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAACGCCCTGGTGTCCTA	0.667																																							uc003lhx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|breast(1)	5						c.(1462-1464)CTG>ATG		protocadherin alpha 10 isoform 1 precursor							76.0	78.0	77.0					5																	140237095		2196	4273	6469	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237095C>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1462C>A	5.37:g.140237095C>A	ENSP00000304234:p.Leu488Met					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.L488M|PCDHA10_uc011dad.1_Missense_Mutation_p.L488M	p.L488M	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1462	+			488			Cadherin 5.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1462C>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	8.069	0.769791	0.15983	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.51574	4.06;0.7	3.74	3.74	0.42951	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.53997	0.1831	L	0.44542	1.39	0.09310	N	1	P;D;P	0.55605	0.937;0.972;0.57	P;P;B	0.59288	0.846;0.855;0.211	T	0.38415	-0.9662	9	0.51188	T	0.08	.	9.9209	0.41464	0.0:0.9044:0.0:0.0956	.	488;488;488	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	M	488	ENSP00000421030:L488M;ENSP00000304234:L488M	ENSP00000304234:L488M	L	+	1	2	PCDHA10	140217279	0.001000	0.12720	0.987000	0.45799	0.642000	0.38348	1.391000	0.34475	2.077000	0.62373	0.456000	0.33151	CTG		0.667	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		35	35	1	0	3.77016e-25	0.003214	6.0066e-25	35	35				
PCDHA12	56137	broad.mit.edu	37	5	140256759	140256759	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140256759A>G	ENST00000398631.2	+	1	1702	c.1702A>G	c.(1702-1704)Act>Gct	p.T568A	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	568					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T568A(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGCTGGCGACTCCGGCTGG	0.711																																					Pancreas(113;759 1672 13322 24104 50104)	Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1702-1704)ACT>GCT		protocadherin alpha 12 isoform 1 precursor							161.0	162.0	162.0					5																	140256759		2203	4299	6502	SO:0001583	missense	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140256759A>G	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1702A>G	5.37:g.140256759A>G	ENSP00000381628:p.Thr568Ala					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.T568A	p.T568A	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1829	+			568			Extracellular (Potential).		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1702A>G	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	A	0.223	-1.026853	0.02045	.	.	ENSG00000251664	ENST00000398631	T	0.37915	1.17	3.36	1.47	0.22746	Cadherin-like (1);	.	.	.	.	T	0.18425	0.0442	N	0.13168	0.305	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.24083	-1.0170	9	0.72032	D	0.01	.	1.9185	0.03302	0.2143:0.475:0.1878:0.1228	.	568;568	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	A	568	ENSP00000381628:T568A	ENSP00000381628:T568A	T	+	1	0	PCDHA12	140236943	0.000000	0.05858	0.008000	0.14137	0.009000	0.06853	0.177000	0.16801	-0.014000	0.14175	-1.275000	0.01399	ACT		0.711	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		10	131	0	0	0	0.006122	0	10	131				
PCDHA13	56136	broad.mit.edu	37	5	140262802	140262802	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140262802G>A	ENST00000289272.2	+	1	949	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.E317K|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	317	Cadherin 3. {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.E317K(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATTATATGAAATATCCGT	0.403																																					Melanoma(147;1739 1852 5500 27947 37288)	Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(949-951)GAA>AAA		protocadherin alpha 13 isoform 1 precursor							58.0	68.0	64.0					5																	140262802		2203	4300	6503	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140262802G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.949G>A	5.37:g.140262802G>A	ENSP00000289272:p.Glu317Lys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.E317K|PCDHA13_uc003lid.2_Missense_Mutation_p.E317K	p.E317K	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	949	+			317			Cadherin 3.|Extracellular (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.949G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163293	0.38217	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.54071	0.59;0.59	5.58	3.8	0.43715	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.41213	0.1149	L	0.35414	1.06	0.34081	D	0.659612	B;B;B	0.26147	0.101;0.105;0.143	B;B;B	0.32022	0.139;0.113;0.121	T	0.48043	-0.9069	9	0.35671	T	0.21	.	7.4419	0.27187	0.1479:0.1372:0.7149:0.0	.	317;317;317	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	K	317	ENSP00000386821:E317K;ENSP00000289272:E317K	ENSP00000289272:E317K	E	+	1	0	PCDHA13	140242986	1.000000	0.71417	0.898000	0.35279	0.977000	0.68977	3.381000	0.52455	0.715000	0.32103	0.561000	0.74099	GAA		0.403	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		39	99	0	0	0	0.005524	0	39	99				
PCDHB1	29930	broad.mit.edu	37	5	140432667	140432667	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140432667G>T	ENST00000306549.3	+	1	1689	c.1612G>T	c.(1612-1614)Ggc>Tgc	p.G538C		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G538C(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTGATGGGGGCTTCCTGTC	0.453																																							uc003lik.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1612-1614)GGC>TGC		protocadherin beta 1 precursor							79.0	82.0	81.0					5																	140432667		2203	4300	6503	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432667G>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1612G>T	5.37:g.140432667G>T	ENSP00000307234:p.Gly538Cys						p.G538C	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1689	+			538			Cadherin 5.|Extracellular (Potential).		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.1612G>T	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134094	0.56828	.	.	ENSG00000171815	ENST00000306549	T	0.68331	-0.32	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000178	D	0.91040	0.7181	H	0.99668	4.69	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.94637	0.7827	10	0.87932	D	0	.	19.7637	0.96333	0.0:0.0:1.0:0.0	.	538	Q9Y5F3	PCDB1_HUMAN	C	538	ENSP00000307234:G538C	ENSP00000307234:G538C	G	+	1	0	PCDHB1	140412851	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	6.721000	0.74728	2.758000	0.94735	0.655000	0.94253	GGC		0.453	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		19	64	1	0	1.00905e-13	0.008871	1.42058e-13	19	64				
PCDHB4	56131	broad.mit.edu	37	5	140502399	140502399	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140502399C>A	ENST00000194152.1	+	1	819	c.819C>A	c.(817-819)ttC>ttA	p.F273L	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	273	Cadherin 3. {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.F273L(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)			CTGGAAACTTCGGGAGTGTTT	0.403																																							uc003lip.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(817-819)TTC>TTA		protocadherin beta 4 precursor							103.0	117.0	112.0					5																	140502399		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.chr5:140502399C>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.819C>A	5.37:g.140502399C>A	ENSP00000194152:p.Phe273Leu						p.F273L	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	819	+			273			Cadherin 3.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.819C>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449297	0.26074	.	.	ENSG00000081818	ENST00000194152	T	0.50001	0.76	4.41	-4.9	0.03094	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.47820	0.1466	M	0.66297	2.02	0.29330	N	0.866778	B	0.14805	0.011	B	0.28232	0.087	T	0.51942	-0.8641	9	0.49607	T	0.09	.	16.3062	0.82849	0.0:0.1867:0.0:0.8133	.	273	Q9Y5E5	PCDB4_HUMAN	L	273	ENSP00000194152:F273L	ENSP00000194152:F273L	F	+	3	2	PCDHB4	140482583	0.000000	0.05858	0.854000	0.33618	0.780000	0.44128	-3.062000	0.00623	-0.845000	0.04179	-0.145000	0.13849	TTC		0.403	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		48	144	1	0	3.21987e-24	0.00361	5.12231e-24	48	144				
PCDHB6	56130	broad.mit.edu	37	5	140530549	140530549	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140530549C>A	ENST00000231136.1	+	1	711	c.711C>A	c.(709-711)aaC>aaA	p.N237K	PCDHB6_ENST00000543635.1_Missense_Mutation_p.N101K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	237	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)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.N237K(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGTCCCCGAGT	0.562																																							uc003lir.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(709-711)AAC>AAA		protocadherin beta 6 precursor							46.0	49.0	48.0					5																	140530549		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530549C>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.711C>A	5.37:g.140530549C>A	ENSP00000231136:p.Asn237Lys					PCDHB6_uc011dah.1_Missense_Mutation_p.N101K	p.N237K	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	711	+			237			Cadherin 2.|Extracellular (Potential).		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.711C>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478493	0.44044	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01705	4.68;4.68	4.85	-5.23	0.02798	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.24736	0.0600	H	0.99987	5.265	0.21386	N	0.999707	D	0.89917	1.0	D	0.91635	0.999	T	0.30765	-0.9967	9	0.87932	D	0	.	15.1903	0.73038	0.0:0.3239:0.0:0.6761	.	237	Q9Y5E3	PCDB6_HUMAN	K	101;237;22	ENSP00000438466:N101K;ENSP00000231136:N237K	ENSP00000231136:N237K	N	+	3	2	PCDHB6	140510733	0.000000	0.05858	0.013000	0.15412	0.715000	0.41141	-4.155000	0.00284	-0.896000	0.03915	0.561000	0.74099	AAC		0.562	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		9	53	1	0	0.000978159	0.000978	0.00104824	9	53				
PCDHB8	56128	broad.mit.edu	37	5	140559495	140559495	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140559495C>T	ENST00000239444.2	+	1	2125	c.1880C>T	c.(1879-1881)aCc>aTc	p.T627I	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	627	Cadherin 6. {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.T627I(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGTGCGCACCGCCAGGCTG	0.701																																							uc011dai.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(1879-1881)ACC>ATC		protocadherin beta 8 precursor							16.0	20.0	19.0					5																	140559495		1954	3920	5874	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559495C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1880C>T	5.37:g.140559495C>T	ENSP00000239444:p.Thr627Ile					PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.T627I	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2066	+			627			Cadherin 6.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1880C>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087486	0.55968	.	.	ENSG00000120322	ENST00000239444	T	0.55760	0.5	4.22	3.35	0.38373	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68860	0.3047	M	0.86953	2.85	0.30777	N	0.742427	P	0.36712	0.566	P	0.50934	0.654	T	0.71148	-0.4677	9	0.87932	D	0	.	9.3577	0.38177	0.0:0.8182:0.0:0.1818	.	627	Q9UN66	PCDB8_HUMAN	I	627	ENSP00000239444:T627I	ENSP00000239444:T627I	T	+	2	0	PCDHB8	140539679	0.000000	0.05858	0.989000	0.46669	0.870000	0.49936	-0.063000	0.11655	0.779000	0.33543	0.298000	0.19748	ACC		0.701	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		19	62	0	0	0	0.003271	0	19	62				
PCDHB14	56122	broad.mit.edu	37	5	140605057	140605057	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140605057G>T	ENST00000239449.4	+	1	1980	c.1980G>T	c.(1978-1980)gtG>gtT	p.V660V	PCDHB14_ENST00000515856.2_Silent_p.V507V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	660	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V660V(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGCACGTGCTCCTGGTGG	0.711																																					Ovarian(141;50 1831 27899 33809 37648)	Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1978-1980)GTG>GTT		protocadherin beta 14 precursor							27.0	32.0	30.0					5																	140605057		2062	4086	6148	SO:0001819	synonymous_variant	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605057G>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1980G>T	5.37:g.140605057G>T						PCDHB14_uc011dal.1_Silent_p.V507V	p.V660V	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1980	+			660			Cadherin 6.|Extracellular (Potential).		B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.1980G>T	CCDS4256.1																																																																																				0.711	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		8	68	1	0	2.17888e-05	0.006214	2.47016e-05	8	68				
PCDHB18	54660	broad.mit.edu	37	5	140615779	140615779	+	RNA	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140615779G>T	ENST00000526308.1	+	0	1842					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V498V(1)		endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCGTGCTGGTGCTGGACGCCA	0.706																																							uc003ljc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1492-1494)GTG>GTT		SubName: Full=Similar to protocadherin-3 (Pcdh3);																																						54660							g.chr5:140615779G>T	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615779G>T							p.V498V	NR_001281						1	1842	+								B3KTF8	Silent	SNP	ENST00000526308.1	37	c.1494G>T																																																																																					0.706	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			8	77	1	0	0.00448238	0.004482	0.00471438	8	77				
PCDHB18	54660	broad.mit.edu	37	5	140615835	140615835	+	RNA	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140615835C>T	ENST00000526308.1	+	0	1898					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A517V(1)		endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						AACGGCTCGGCGCCCTGCACC	0.716																																							uc003ljc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1549-1551)GCG>GTG		SubName: Full=Similar to protocadherin-3 (Pcdh3);																																						54660							g.chr5:140615835C>T	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615835C>T							p.A517V	NR_001281						1	1898	+								B3KTF8	Missense_Mutation	SNP	ENST00000526308.1	37	c.1550C>T																																																																																					0.716	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			9	24	0	0	0	0.006214	0	9	24				
PCDHB15	56121	broad.mit.edu	37	5	140625580	140625580	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140625580C>G	ENST00000231173.3	+	1	434	c.434C>G	c.(433-435)aCt>aGt	p.T145S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	145	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.T145S(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCCCAGAAACTAGCTCCCTT	0.413																																							uc003lje.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(1)	5						c.(433-435)ACT>AGT		protocadherin beta 15 precursor							67.0	71.0	69.0					5																	140625580		2203	4300	6503	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140625580C>G	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.434C>G	5.37:g.140625580C>G	ENSP00000231173:p.Thr145Ser						p.T145S	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	434	+			145			Extracellular (Potential).|Cadherin 2.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.434C>G	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.847193	0.00067	.	.	ENSG00000113248	ENST00000231173	T	0.18338	2.22	4.76	-9.52	0.00578	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.01730	0.0055	N	0.00028	-2.63	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.39961	-0.9588	9	0.09590	T	0.72	.	5.7098	0.17929	0.5765:0.1248:0.1974:0.1013	.	145	Q9Y5E8	PCDBF_HUMAN	S	145	ENSP00000231173:T145S	ENSP00000231173:T145S	T	+	2	0	PCDHB15	140605764	0.000000	0.05858	0.001000	0.08648	0.774000	0.43823	-5.328000	0.00131	-5.274000	0.00017	-0.657000	0.03884	ACT		0.413	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		24	115	0	0	0	0.007291	0	24	115				
PCDHB15	56121	broad.mit.edu	37	5	140625593	140625593	+	Silent	SNP	G	G	C	rs267600440		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140625593G>C	ENST00000231173.3	+	1	447	c.447G>C	c.(445-447)ggG>ggC	p.G149G		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	149	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.G149G(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCTTGGGACTGTGTTTC	0.418																																							uc003lje.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|skin(1)	5						c.(445-447)GGG>GGC		protocadherin beta 15 precursor							61.0	65.0	64.0					5																	140625593		2203	4300	6503	SO:0001819	synonymous_variant	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140625593G>C	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.447G>C	5.37:g.140625593G>C							p.G149G	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	447	+			149			Extracellular (Potential).|Cadherin 2.		Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.447G>C	CCDS4257.1																																																																																				0.418	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		19	107	0	0	0	0.002299	0	19	107				
PCDHB15	56121	broad.mit.edu	37	5	140626431	140626432	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140626431_140626432CC>AA	ENST00000231173.3	+	1	1285_1286	c.1285_1286CC>AA	c.(1285-1287)CCa>AAa	p.P429K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	429	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.P429K(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTGGGGACTCCAAGGCTGAAA	0.554																																							uc003lje.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(1)	5						c.(1285-1287)CCA>AAA		protocadherin beta 15 precursor																																				SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626431_140626432CC>AA	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	Exception_encountered	5.37:g.140626431_140626432delinsAA	ENSP00000231173:p.Pro429Lys						p.P429K	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1285_1286	+			429			Extracellular (Potential).|Cadherin 4.		Q8IUX5	Missense_Mutation	DNP	ENST00000231173.3	37	c.1285_1286CC>AA	CCDS4257.1																																																																																				0.554	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		32	118	0	0	0	0.004672	0	32	118				
PCDHGC3	5098	broad.mit.edu	37	5	140856219	140856219	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140856219A>G	ENST00000308177.3	+	1	640	c.536A>G	c.(535-537)tAc>tGc	p.Y179C	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y179C(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAATGAATACTTTGCGCTT	0.612																																							uc003lkv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(535-537)TAC>TGC		protocadherin gamma subfamily C, 3 isoform 1							46.0	47.0	47.0					5																	140856219		2203	4300	6503	SO:0001583	missense	5098				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140856219A>G	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.536A>G	5.37:g.140856219A>G	ENSP00000312070:p.Tyr179Cys					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_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.Y179C|PCDHGC3_uc003lkw.1_Intron	p.Y179C	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	651	+			179			Cadherin 2.|Extracellular (Potential).		O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.536A>G	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.569427	0.45798	.	.	ENSG00000240184	ENST00000308177	T	0.52057	0.68	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.42585	0.1209	L	0.48218	1.51	0.26732	N	0.970569	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.002	T	0.36335	-0.9752	9	0.62326	D	0.03	.	10.5788	0.45244	0.8564:0.0:0.0:0.1436	.	179;179	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	C	179	ENSP00000312070:Y179C	ENSP00000312070:Y179C	Y	+	2	0	PCDHGC3	140836403	0.747000	0.28283	1.000000	0.80357	0.721000	0.41392	1.680000	0.37607	2.198000	0.70561	0.533000	0.62120	TAC		0.612	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		4	65	0	0	0	0.009096	0	4	65				
KCTD16	57528	broad.mit.edu	37	5	143586702	143586702	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:143586702C>A	ENST00000507359.3	+	2	1516	c.425C>A	c.(424-426)gCc>gAc	p.A142D	KCTD16_ENST00000512467.1_Missense_Mutation_p.A142D	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	142					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)		p.A142D(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TTTGAAGATGCCTCCCAAGGA	0.537																																							uc003lnm.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(424-426)GCC>GAC		potassium channel tetramerisation domain							88.0	94.0	92.0					5																	143586702		2203	4300	6503	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143586702C>A	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.425C>A	5.37:g.143586702C>A	ENSP00000426548:p.Ala142Asp					KCTD16_uc003lnn.1_Missense_Mutation_p.A142D	p.A142D	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	1054	+		all_hematologic(541;0.118)	142					Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.425C>A	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	C	8.304	0.820577	0.16678	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.44881	0.91;0.91	5.75	2.64	0.31445	.	0.224693	0.46442	D	0.000292	T	0.21962	0.0529	N	0.19112	0.55	0.33203	D	0.552413	B	0.18166	0.026	B	0.20577	0.03	T	0.10941	-1.0608	10	0.32370	T	0.25	.	2.8351	0.05512	0.0:0.4143:0.2351:0.3506	.	142	Q68DU8	KCD16_HUMAN	D	142	ENSP00000424151:A142D;ENSP00000426548:A142D	ENSP00000426548:A142D	A	+	2	0	KCTD16	143566895	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	2.191000	0.42640	1.432000	0.47375	0.561000	0.74099	GCC		0.537	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		29	78	1	0	5.91797e-21	0.002445	9.11824e-21	29	78				
SPARC	6678	broad.mit.edu	37	5	151046061	151046061	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:151046061T>C	ENST00000231061.4	-	8	908	c.595A>G	c.(595-597)Atc>Gtc	p.I199V	SPARC_ENST00000537849.1_5'UTR	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	199					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)	p.I199V(1)		central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		TTCTCATGGATCTTCTTCACC	0.567																																							uc003luh.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(595-597)ATC>GTC		secreted protein, acidic, cysteine-rich	Becaplermin(DB00102)						44.0	43.0	43.0					5																	151046061		2203	4300	6503	SO:0001583	missense	6678				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	g.chr5:151046061T>C		CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"""cysteine-rich protein"", ""osteonectin"""	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.595A>G	5.37:g.151046061T>C	ENSP00000231061:p.Ile199Val					GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_Missense_Mutation_p.I33V|SPARC_uc003lui.2_Missense_Mutation_p.I199V	p.I199V	NM_003118	NP_003109	P09486	SPRC_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	7	619	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	199					D3DQH9|Q6IBK4	Missense_Mutation	SNP	ENST00000231061.4	37	c.595A>G	CCDS4318.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.324338	0.81580	.	.	ENSG00000113140	ENST00000231061;ENST00000538026;ENST00000521569	T	0.25085	1.82	5.7	4.51	0.55191	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.044425	0.85682	D	0.000000	T	0.40222	0.1108	M	0.84683	2.71	0.80722	D	1	B	0.33549	0.417	B	0.40410	0.328	T	0.37009	-0.9724	10	0.72032	D	0.01	-23.089	11.9736	0.53078	0.13:0.0:0.0:0.87	.	199	P09486	SPRC_HUMAN	V	199;108;108	ENSP00000231061:I199V	ENSP00000231061:I199V	I	-	1	0	SPARC	151026254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.438000	0.80431	0.950000	0.37743	0.533000	0.62120	ATC		0.567	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118		6	28	0	0	0	0.001168	0	6	28				
NMUR2	56923	broad.mit.edu	37	5	151784176	151784176	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:151784176G>T	ENST00000255262.3	-	1	664	c.499C>A	c.(499-501)Ctc>Atc	p.L167I	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	167					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.L167I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ACGATGCCGAGGATCCTGAGG	0.637																																							uc003luv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8						c.(499-501)CTC>ATC		neuromedin U receptor 2							52.0	59.0	57.0					5																	151784176		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784176G>T	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.499C>A	5.37:g.151784176G>T	ENSP00000255262:p.Leu167Ile						p.L167I	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		1	665	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	167			Helical; Name=4; (Potential).		Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.499C>A	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.922116	0.00498	.	.	ENSG00000132911	ENST00000255262	T	0.68025	-0.3	5.44	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.509628	0.19031	N	0.124542	T	0.28928	0.0718	N	0.01535	-0.81	0.34781	D	0.73469	B	0.12630	0.006	B	0.16289	0.015	T	0.35276	-0.9795	10	0.02654	T	1	-9.1437	4.9994	0.14257	0.0733:0.1222:0.5256:0.2789	.	167	Q9GZQ4	NMUR2_HUMAN	I	167	ENSP00000255262:L167I	ENSP00000255262:L167I	L	-	1	0	NMUR2	151764369	1.000000	0.71417	0.024000	0.17045	0.091000	0.18340	1.928000	0.40104	0.255000	0.21593	0.585000	0.79938	CTC		0.637	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		23	69	1	0	8.24728e-16	0.004656	1.19066e-15	23	69				
FAM114A2	10827	broad.mit.edu	37	5	153413916	153413916	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:153413916G>T	ENST00000351797.4	-	3	308	c.232C>A	c.(232-234)Ccc>Acc	p.P78T	FAM114A2_ENST00000522858.1_Missense_Mutation_p.P78T|FAM114A2_ENST00000520667.1_Missense_Mutation_p.P78T|FAM114A2_ENST00000520313.1_Intron	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	78							purine nucleotide binding (GO:0017076)	p.P78T(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						CTGGTCTGGGGTACATCTTTG	0.423																																							uc003lvb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(232-234)CCC>ACC		hypothetical protein LOC10827							94.0	90.0	91.0					5																	153413916		2203	4300	6503	SO:0001583	missense	10827						purine nucleotide binding	g.chr5:153413916G>T	AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.232C>A	5.37:g.153413916G>T	ENSP00000341597:p.Pro78Thr					FAM114A2_uc003lvc.2_Missense_Mutation_p.P78T|FAM114A2_uc003lvd.2_Missense_Mutation_p.P78T|FAM114A2_uc003lve.2_Intron|FAM114A2_uc011dda.1_Intron	p.P78T	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN			3	820	-			78					B2R8D8|Q9H7E0	Missense_Mutation	SNP	ENST00000351797.4	37	c.232C>A	CCDS4323.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396843	0.25205	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000433795;ENST00000522395;ENST00000523705;ENST00000519808;ENST00000518102;ENST00000522634	T;T;T;T;T;T	0.41065	2.6;2.6;2.6;1.6;1.59;1.01	5.8	0.444	0.16592	.	0.391216	0.26808	N	0.022389	T	0.16214	0.0390	N	0.14661	0.345	0.54753	D	0.999988	B	0.09022	0.002	B	0.14023	0.01	T	0.09122	-1.0689	10	0.09338	T	0.73	-1.6598	0.8091	0.01090	0.2274:0.3228:0.2206:0.2291	.	78	Q9NRY5	F1142_HUMAN	T	78	ENSP00000341597:P78T;ENSP00000430489:P78T;ENSP00000430384:P78T;ENSP00000430186:P78T;ENSP00000428827:P78T;ENSP00000429753:P78T	ENSP00000341597:P78T	P	-	1	0	FAM114A2	153394109	0.987000	0.35691	0.271000	0.24616	0.758000	0.43043	0.374000	0.20501	0.307000	0.22880	0.650000	0.86243	CCC		0.423	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	NM_018691		15	60	1	0	1.52009e-12	0.003163	2.09621e-12	15	60				
GEMIN5	25929	broad.mit.edu	37	5	154271039	154271039	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:154271039C>G	ENST00000285873.7	-	26	4099	c.4024G>C	c.(4024-4026)Gac>Cac	p.D1342H		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1342					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.D1342H(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGTCTCAAGTCTAGTTCTGAA	0.478																																							uc003lvx.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(4024-4026)GAC>CAC		gemin 5							181.0	173.0	176.0					5																	154271039		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154271039C>G	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.4024G>C	5.37:g.154271039C>G	ENSP00000285873:p.Asp1342His					GEMIN5_uc011ddk.1_Missense_Mutation_p.D1341H	p.D1342H	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		26	4107	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	1342					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.4024G>C	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	C	8.859	0.946475	0.18356	.	.	ENSG00000082516	ENST00000285873	T	0.71461	-0.57	5.8	1.41	0.22369	.	1.335400	0.04736	N	0.421949	T	0.62720	0.2451	L	0.44542	1.39	0.09310	N	1	P;P	0.46395	0.877;0.877	B;B	0.41723	0.365;0.365	T	0.51212	-0.8734	10	0.54805	T	0.06	-0.1126	4.3218	0.11020	0.0:0.503:0.1611:0.3359	.	1341;1342	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	H	1342	ENSP00000285873:D1342H	ENSP00000285873:D1342H	D	-	1	0	GEMIN5	154251232	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.445000	0.06845	-0.038000	0.13624	-0.345000	0.07892	GAC		0.478	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			5	283	0	0	0	0.001984	0	5	283				
EBF1	1879	broad.mit.edu	37	5	158523984	158523984	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:158523984T>A	ENST00000313708.6	-	2	571	c.289A>T	c.(289-291)Aaa>Taa	p.K97*	EBF1_ENST00000380654.4_Nonsense_Mutation_p.K97*|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Nonsense_Mutation_p.K97*	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	97					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|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.K97*(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACTTACTTTTTCCTTCTCC	0.632			T	HMGA2	lipoma																																		uc010jip.2		NA		Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	1	Substitution - Nonsense(1)		lung(1)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(289-291)AAA>TAA		early B-cell factor							61.0	50.0	54.0					5																	158523984		2203	4300	6503	SO:0001587	stop_gained	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158523984T>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.289A>T	5.37:g.158523984T>A	ENSP00000322898:p.Lys97*					EBF1_uc011ddw.1_5'Flank|EBF1_uc011ddx.1_Nonsense_Mutation_p.K97*|EBF1_uc003lxl.3_Nonsense_Mutation_p.K97*	p.K97*	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	591	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	97					Q8IW11	Nonsense_Mutation	SNP	ENST00000313708.6	37	c.289A>T	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	T	41	8.807963	0.98962	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3007	15.8481	0.78907	0.0:0.0:0.0:1.0	.	.	.	.	X	97	.	ENSP00000322898:K97X	K	-	1	0	EBF1	158456562	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.051000	0.64257	2.135000	0.66039	0.459000	0.35465	AAA		0.632	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		9	21	0	0	0	0.008291	0	9	21				
ATP10B	23120	broad.mit.edu	37	5	160029594	160029594	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:160029594T>C	ENST00000327245.5	-	21	4199	c.3353A>G	c.(3352-3354)tAc>tGc	p.Y1118C		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1118					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Y1118C(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACGTTCTTGTAGAGGTAGTA	0.572																																							uc003lym.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(3352-3354)TAC>TGC		ATPase, class V, type 10B							51.0	54.0	53.0					5																	160029594		2077	4206	6283	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160029594T>C	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3353A>G	5.37:g.160029594T>C	ENSP00000313600:p.Tyr1118Cys					ATP10B_uc010jit.1_Missense_Mutation_p.Y435C	p.Y1118C	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		21	4200	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1118			Helical; (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.3353A>G	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.342032	0.81911	.	.	ENSG00000118322	ENST00000327245	T	0.74002	-0.8	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.91633	0.7356	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.94323	0.7555	9	.	.	.	.	12.3063	0.54904	0.0:0.0:0.0:1.0	.	1118	O94823	AT10B_HUMAN	C	1118	ENSP00000313600:Y1118C	.	Y	-	2	0	ATP10B	159962172	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	7.861000	0.87004	2.061000	0.61500	0.528000	0.53228	TAC		0.572	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		5	34	0	0	0	0.000602	0	5	34				
RUFY1	80230	broad.mit.edu	37	5	179023586	179023586	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:179023586G>A	ENST00000319449.4	+	13	1547	c.1535G>A	c.(1534-1536)aGg>aAg	p.R512K	RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000437570.2_Missense_Mutation_p.R404K|RUFY1_ENST00000393438.2_Missense_Mutation_p.R404K|RUFY1_ENST00000377001.2_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	512					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.R404K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCGGGCGAGGCAGGGGGCT	0.592										HNSCC(44;0.11)																													uc003mka.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)	5						c.(1534-1536)AGG>AAG		RUN and FYVE domain-containing 1 isoform a							83.0	100.0	94.0					5																	179023586		2189	4270	6459	SO:0001583	missense	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:179023586G>A	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1535G>A	5.37:g.179023586G>A	ENSP00000325594:p.Arg512Lys	HNSCC(44;0.11)				RUFY1_uc003mkb.1_Missense_Mutation_p.R404K|RUFY1_uc003mkc.1_Missense_Mutation_p.R404K|RUFY1_uc003mkd.1_Missense_Mutation_p.R114K	p.R512K	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1535	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	512			Potential.		Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	c.1535G>A	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423544	0.43020	.	.	ENSG00000176783	ENST00000319449;ENST00000437570;ENST00000393438;ENST00000360569	T;T;T	0.51817	0.69;0.73;0.73	5.3	5.3	0.74995	.	0.096818	0.64402	D	0.000002	T	0.47600	0.1454	M	0.74647	2.275	0.80722	D	1	B	0.12013	0.005	B	0.17979	0.02	T	0.45469	-0.9259	10	0.09590	T	0.72	-26.2204	16.0344	0.80612	0.0:0.0:1.0:0.0	.	512	Q96T51	RUFY1_HUMAN	K	512;404;404;114	ENSP00000325594:R512K;ENSP00000390025:R404K;ENSP00000377087:R404K	ENSP00000325594:R512K	R	+	2	0	RUFY1	178956192	0.970000	0.33590	0.092000	0.20876	0.010000	0.07245	2.694000	0.47035	2.631000	0.89168	0.561000	0.74099	AGG		0.592	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		21	209	0	0	0	0.002299	0	21	209				
MAML1	9794	broad.mit.edu	37	5	179193482	179193482	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:179193482A>T	ENST00000292599.3	+	2	1734	c.1471A>T	c.(1471-1473)Agt>Tgt	p.S491C	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.S491C(1)|p.S528C(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAACCTGCTGAGTCACCAGCC	0.527																																							uc003mkm.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)	6						c.(1471-1473)AGT>TGT		mastermind-like 1							65.0	58.0	60.0					5																	179193482		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179193482A>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1471A>T	5.37:g.179193482A>T	ENSP00000292599:p.Ser491Cys					MAML1_uc003mkn.1_Missense_Mutation_p.S491C	p.S491C	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1734	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	491						Missense_Mutation	SNP	ENST00000292599.3	37	c.1471A>T	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.882480	0.51908	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.25085	1.82	5.15	2.36	0.29203	.	0.477764	0.22779	N	0.055742	T	0.35828	0.0945	M	0.67953	2.075	0.34027	D	0.653367	D;D	0.71674	0.995;0.998	P;P	0.61722	0.893;0.784	T	0.52170	-0.8611	10	0.66056	D	0.02	-8.4793	1.3853	0.02239	0.5376:0.1578:0.1519:0.1527	.	528;491	Q59GH4;Q92585	.;MAML1_HUMAN	C	491;528	ENSP00000292599:S491C	ENSP00000292599:S491C	S	+	1	0	MAML1	179126088	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	1.702000	0.37836	1.931000	0.55961	0.460000	0.39030	AGT		0.527	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		20	37	0	0	0	0.008361	0	20	37				
MAPK9	5601	broad.mit.edu	37	5	179691800	179691800	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:179691800G>C	ENST00000452135.2	-	4	590	c.292C>G	c.(292-294)Cta>Gta	p.L98V	MAPK9_ENST00000343111.6_Missense_Mutation_p.L98V|MAPK9_ENST00000425491.2_Missense_Mutation_p.L98V|MAPK9_ENST00000524170.1_5'Flank|MAPK9_ENST00000539014.1_Missense_Mutation_p.L98V|MAPK9_ENST00000455781.1_Missense_Mutation_p.L98V|MAPK9_ENST00000347470.4_Missense_Mutation_p.L98V|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Missense_Mutation_p.L98V			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)	p.L98V(4)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATTCTTCTAGAGTTTTTTGT	0.259																																							uc003mls.3		NA																	4	Substitution - Missense(4)		lung(4)	central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4						c.(292-294)CTA>GTA		mitogen-activated protein kinase 9 isoform JNK2							43.0	44.0	43.0					5																	179691800		2188	4284	6472	SO:0001583	missense	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding	g.chr5:179691800G>C	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.292C>G	5.37:g.179691800G>C	ENSP00000394560:p.Leu98Val					MAPK9_uc003mlt.3_Missense_Mutation_p.L98V|MAPK9_uc010jlc.2_Missense_Mutation_p.L98V|MAPK9_uc003mlv.3_Missense_Mutation_p.L98V|MAPK9_uc011dgx.1_Missense_Mutation_p.L98V	p.L98V	NM_002752	NP_002743	P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	563	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	98			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.292C>G	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348295	0.41599	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014;ENST00000523583	D;D;D;D;D;D;D;T	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;3.17	5.52	4.66	0.58398	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000012	T	0.72692	0.3492	N	0.17800	0.525	0.80722	D	1	B;B;B;B;B	0.21753	0.006;0.022;0.027;0.06;0.007	B;B;B;B;B	0.27262	0.019;0.078;0.019;0.069;0.046	T	0.70193	-0.4939	10	0.72032	D	0.01	-14.788	10.478	0.44676	0.1483:0.0:0.8517:0.0	.	98;98;98;98;98	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	V	98	ENSP00000394560:L98V;ENSP00000377028:L98V;ENSP00000389338:L98V;ENSP00000345524:L98V;ENSP00000321410:L98V;ENSP00000397422:L98V;ENSP00000443149:L98V;ENSP00000430608:L98V	ENSP00000345524:L98V	L	-	1	2	MAPK9	179624406	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.288000	0.51739	1.352000	0.45808	0.655000	0.94253	CTA		0.259	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			6	13	0	0	0	0.001984	0	6	13				
FLT4	2324	broad.mit.edu	37	5	180057260	180057260	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:180057260C>A	ENST00000261937.6	-	4	556	c.478G>T	c.(478-480)Gtg>Ttg	p.V160L	FLT4_ENST00000502649.1_Missense_Mutation_p.V160L|FLT4_ENST00000393347.3_Missense_Mutation_p.V160L|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	160	Ig-like C2-type 2.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V160L(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGGATGGACACCAGACAGGGC	0.622																																					Colon(97;1075 1466 27033 27547 35871)	Colon(97;1075 1466 27033 27547 35871)	uc003mma.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(478-480)GTG>TTG		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						109.0	93.0	98.0					5																	180057260		2200	4300	6500	SO:0001583	missense	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180057260C>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.478G>T	5.37:g.180057260C>A	ENSP00000261937:p.Val160Leu					FLT4_uc003mlz.3_Missense_Mutation_p.V160L|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Missense_Mutation_p.V160L|FLT4_uc011dgz.1_Missense_Mutation_p.V160L|FLT4_uc011dha.1_Missense_Mutation_p.W143C	p.V160L	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	4	557	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	160			Ig-like C2-type 2.|Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.478G>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999822	0.74818	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.25579	1.79;1.79;1.79	5.36	5.36	0.76844	Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53190	0.1781	M	0.81942	2.565	0.80722	D	1	D;D;P;P	0.62365	0.984;0.991;0.567;0.567	P;D;P;P	0.63283	0.821;0.913;0.533;0.533	T	0.53816	-0.8385	9	0.48119	T	0.1	.	19.461	0.94916	0.0:1.0:0.0:0.0	.	160;160;160;160	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	L	160	ENSP00000261937:V160L;ENSP00000377016:V160L;ENSP00000426057:V160L	ENSP00000261937:V160L	V	-	1	0	FLT4	179989866	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	6.713000	0.74686	2.679000	0.91253	0.511000	0.50034	GTG		0.622	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			10	55	1	0	6.40141e-05	0.000978	7.15178e-05	10	55				
LY86	9450	broad.mit.edu	37	6	6589040	6589040	+	Missense_Mutation	SNP	A	A	G	rs75006006		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:6589040A>G	ENST00000379953.2	+	2	425	c.73A>G	c.(73-75)Aaa>Gaa	p.K25E	LY86-AS1_ENST00000447858.1_RNA|LY86-AS1_ENST00000429345.1_RNA|LY86_ENST00000230568.4_Missense_Mutation_p.K25E|LY86-AS1_ENST00000435641.1_RNA			O95711	LY86_HUMAN	lymphocyte antigen 86	25					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.K25E(1)		large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CGGCGGTGGGAAAGCCTGGCC	0.572																																							uc003mwy.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(73-75)AAA>GAA		MD-1, RP105-associated precursor							87.0	83.0	84.0					6																	6589040		2203	4300	6503	SO:0001583	missense	9450				apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane		g.chr6:6589040A>G	AF057178	CCDS4498.1	6p24.3	2010-07-08			ENSG00000112799	ENSG00000112799			16837	protein-coding gene	gene with protein product		605241				9763566	Standard	NM_004271		Approved	MD-1, dJ80N2.1	uc003mwy.1	O95711	OTTHUMG00000014190	ENST00000379953.2:c.73A>G	6.37:g.6589040A>G	ENSP00000369286:p.Lys25Glu					LOC285780_uc003mww.3_Intron|LOC285780_uc003mwx.2_Intron	p.K25E	NM_004271	NP_004262	O95711	LY86_HUMAN			1	107	+	Ovarian(93;0.0377)		25					Q9UQC4	Missense_Mutation	SNP	ENST00000379953.2	37	c.73A>G	CCDS4498.1	.	.	.	.	.	.	.	.	.	.	A	0.220	-1.029592	0.02045	.	.	ENSG00000112799	ENST00000379953;ENST00000230568	T;T	0.42900	0.96;0.96	3.81	-5.67	0.02444	.	3.213800	0.00841	N	0.001754	T	0.03564	0.0102	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07252	-1.0782	10	0.05351	T	0.99	2.8017	1.5498	0.02572	0.4054:0.2837:0.1841:0.1268	.	25	O95711	LY86_HUMAN	E	25	ENSP00000369286:K25E;ENSP00000230568:K25E	ENSP00000230568:K25E	K	+	1	0	LY86	6534039	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.836000	0.01690	-1.246000	0.02510	-0.285000	0.09966	AAA		0.572	LY86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039762.2			15	82	0	0	0	0.001882	0	15	82				
TRIM27	5987	broad.mit.edu	37	6	28876835	28876835	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:28876835C>A	ENST00000377199.3	-	5	1157	c.801G>T	c.(799-801)tgG>tgT	p.W267C	TRIM27_ENST00000377194.3_Missense_Mutation_p.W267C|TRIM27_ENST00000498117.1_5'Flank	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	267					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.W267C(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GAGGTGTGATCCAAGGTTCAG	0.388			T	RET	papillary thyroid																																		uc003nlr.2		NA		Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(799-801)TGG>TGT		ret finger protein							80.0	83.0	82.0					6																	28876835		2203	4300	6503	SO:0001583	missense	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28876835C>A	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.801G>T	6.37:g.28876835C>A	ENSP00000366404:p.Trp267Cys					TRIM27_uc003nls.2_Missense_Mutation_p.W267C|TRIM27_uc003nlt.1_Missense_Mutation_p.W267C	p.W267C	NM_006510	NP_006501	P14373	TRI27_HUMAN			5	1160	-			267					A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	ENST00000377199.3	37	c.801G>T	CCDS4654.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115723	0.56505	.	.	ENSG00000204713	ENST00000377199;ENST00000377194	T;T	0.61742	0.61;0.08	4.29	4.29	0.51040	.	0.000000	0.48767	D	0.000176	T	0.57213	0.2038	L	0.38175	1.15	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.987;0.956	T	0.56938	-0.7896	10	0.46703	T	0.11	.	12.5492	0.56218	0.0:1.0:0.0:0.0	.	334;267;267	Q59EC6;P14373-2;P14373	.;.;TRI27_HUMAN	C	267	ENSP00000366404:W267C;ENSP00000366399:W267C	ENSP00000366399:W267C	W	-	3	0	TRIM27	28984814	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.439000	0.35013	2.675000	0.91044	0.655000	0.94253	TGG		0.388	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950		17	139	1	0	1.00905e-13	0.008871	1.42058e-13	17	139				
OR14J1	442191	broad.mit.edu	37	6	29274975	29274975	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:29274975G>C	ENST00000377160.2	+	1	573	c.509G>C	c.(508-510)aGa>aCa	p.R170T		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R170T(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TGTGGGAAGAGAGTCATTCAC	0.478																																							uc011dln.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(508-510)AGA>ACA		olfactory receptor, family 5, subfamily U member							170.0	170.0	170.0					6																	29274975		1510	2709	4219	SO:0001583	missense	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29274975G>C		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.509G>C	6.37:g.29274975G>C	ENSP00000366365:p.Arg170Thr						p.R170T	NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN			1	509	+			170			Extracellular (Potential).		A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	c.509G>C	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017739	0.54576	.	.	ENSG00000204695	ENST00000377160	T	0.00091	8.74	4.86	-5.08	0.02929	GPCR, rhodopsin-like superfamily (1);	0.432236	0.19367	N	0.115996	T	0.00039	0.0001	L	0.42686	1.345	0.09310	N	1	B	0.32365	0.367	B	0.40702	0.338	T	0.30592	-0.9973	10	0.72032	D	0.01	.	10.6971	0.45905	0.6444:0.1001:0.2555:0.0	.	170	Q9UGF5	O14J1_HUMAN	T	170	ENSP00000366365:R170T	ENSP00000366365:R170T	R	+	2	0	OR14J1	29382954	0.000000	0.05858	0.000000	0.03702	0.943000	0.58893	-0.361000	0.07612	-1.078000	0.03117	0.650000	0.86243	AGA		0.478	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			3	166	0	0	0	0.004672	0	3	166				
OR2H2	7932	broad.mit.edu	37	6	29555777	29555777	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:29555777C>A	ENST00000383640.2	+	1	95	c.56C>A	c.(55-57)cCa>cAa	p.P19Q	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	19					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P19Q(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TCTGAACACCCAGGGCTGGAA	0.557																																							uc003nmr.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(55-57)CCA>CAA		olfactory receptor, family 2, subfamily H,							171.0	177.0	175.0					6																	29555777		1511	2709	4220	SO:0001583	missense	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29555777C>A		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.56C>A	6.37:g.29555777C>A	ENSP00000373136:p.Pro19Gln					GABBR1_uc003nmp.3_Intron	p.P19Q	NM_007160	NP_009091	O95918	OR2H2_HUMAN			1	95	+			19			Extracellular (Potential).		Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	c.56C>A	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000679	0.35320	.	.	ENSG00000204657	ENST00000383640	T	0.20332	2.08	4.32	3.45	0.39498	.	0.000000	0.37669	N	0.001984	T	0.31544	0.0800	M	0.81341	2.54	0.19945	N	0.999947	D	0.71674	0.998	D	0.69654	0.965	T	0.11616	-1.0580	10	0.87932	D	0	.	11.2608	0.49083	0.0:0.9073:0.0:0.0927	.	19	O95918	OR2H2_HUMAN	Q	19	ENSP00000373136:P19Q	ENSP00000373136:P19Q	P	+	2	0	OR2H2	29663756	0.000000	0.05858	0.486000	0.27416	0.426000	0.31534	-0.050000	0.11904	1.025000	0.39708	0.585000	0.79938	CCA		0.557	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			24	242	1	0	1.85244e-09	0.00333	2.38646e-09	24	242				
GABBR1	2550	broad.mit.edu	37	6	29599302	29599302	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:29599302T>C	ENST00000377034.4	-	3	495	c.160A>G	c.(160-162)Atc>Gtc	p.I54V	GABBR1_ENST00000376977.3_Missense_Mutation_p.I54V|GABBR1_ENST00000377016.4_Missense_Mutation_p.I54V	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	54	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.I54V(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	AGGAAGTTGATAGCCTTCACC	0.632																																							uc003nmt.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|liver(1)|skin(1)	7						c.(160-162)ATC>GTC		gamma-aminobutyric acid (GABA) B receptor 1	Baclofen(DB00181)|Progabide(DB00837)						93.0	99.0	97.0					6																	29599302		2203	4300	6503	SO:0001583	missense	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29599302T>C	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.160A>G	6.37:g.29599302T>C	ENSP00000366233:p.Ile54Val					GABBR1_uc003nmu.3_Missense_Mutation_p.I54V|GABBR1_uc011dlr.1_5'UTR|GABBR1_uc011dls.1_Missense_Mutation_p.I54V	p.I54V	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN			3	496	-			54			Sushi 1.|Extracellular (Potential).		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.160A>G	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	T	3.939	-0.014571	0.07681	.	.	ENSG00000204681	ENST00000376977;ENST00000377016;ENST00000377034;ENST00000462632;ENST00000476670	T;T;T;T;T	0.80123	-0.89;-1.34;-0.35;0.84;0.84	4.49	3.34	0.38264	Complement control module (1);Sushi/SCR/CCP (1);	0.265266	0.30879	N	0.008696	T	0.29458	0.0734	N	0.02539	-0.55	0.20563	N	0.999886	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.08055	0.002;0.003;0.003	T	0.22487	-1.0215	10	0.15066	T	0.55	-27.1815	5.1682	0.15096	0.0:0.2153:0.0:0.7847	.	54;54;54	Q9UBS5-5;Q9UBS5-3;Q9UBS5	.;.;GABR1_HUMAN	V	54;54;54;54;59	ENSP00000366176:I54V;ENSP00000366215:I54V;ENSP00000366233:I54V;ENSP00000419755:I54V;ENSP00000417332:I59V	ENSP00000366176:I54V	I	-	1	0	GABBR1	29707281	0.990000	0.36364	1.000000	0.80357	0.995000	0.86356	2.134000	0.42102	1.680000	0.50976	0.374000	0.22700	ATC		0.632	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			20	218	0	0	0	0.00333	0	20	218				
DHX16	8449	broad.mit.edu	37	6	30630700	30630700	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:30630700C>T	ENST00000376442.3	-	8	1611	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K	DHX16_ENST00000480966.1_5'Flank|DHX16_ENST00000376437.5_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	472	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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.K472K(1)		kidney(2)|ovary(2)	4						CATTCCCAAGCTTCACACCCA	0.567																																							uc003nqz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(2)	4						c.(1414-1416)AAG>AAA		DEAH (Asp-Glu-Ala-His) box polypeptide 16							54.0	64.0	60.0					6																	30630700		1509	2707	4216	SO:0001819	synonymous_variant	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30630700C>T	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.1416G>A	6.37:g.30630700C>T						DHX16_uc003nqy.2_5'Flank|DHX16_uc011dmo.1_Silent_p.K412K	p.K472K	NM_003587	NP_003578	O60231	DHX16_HUMAN			8	1628	-			472			Helicase ATP-binding.		O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	ENST00000376442.3	37	c.1416G>A	CCDS4685.1																																																																																				0.567	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		7	85	0	0	0	0.004482	0	7	85				
CFB	629	broad.mit.edu	37	6	31916238	31916238	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:31916238A>T	ENST00000425368.2	+	7	1498	c.985A>T	c.(985-987)Agc>Tgc	p.S329C	CFB_ENST00000497841.1_3'UTR|CFB_ENST00000456570.1_Missense_Mutation_p.S831C|CFB_ENST00000477310.1_Missense_Mutation_p.S680C|CFB_ENST00000556679.1_Missense_Mutation_p.S831C	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	329	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)	p.S329C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGAAGCAGACAGCAGTAATGC	0.478																																							uc003nyj.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(985-987)AGC>TGC		complement factor B preproprotein							109.0	98.0	101.0					6																	31916238		2203	4300	6503	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31916238A>T	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.985A>T	6.37:g.31916238A>T	ENSP00000416561:p.Ser329Cys					CFB_uc011dor.1_Missense_Mutation_p.S831C|CFB_uc003nyi.2_Missense_Mutation_p.S329C	p.S329C	NM_001710	NP_001701	P00751	CFAB_HUMAN			7	1263	+			329			VWFA.		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.985A>T	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.656869	0.47467	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	5.63	5.63	0.86233	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000004	D	0.91168	0.7218	M	0.85041	2.73	0.42950	D	0.994374	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.997	D	0.92739	0.6206	10	0.87932	D	0	-34.6953	12.2269	0.54465	1.0:0.0:0.0:0.0	.	831;329;329	B4E1Z4;P00751;P00751-2	.;CFAB_HUMAN;.	C	831;329;831;680	ENSP00000451848:S831C;ENSP00000416561:S329C;ENSP00000410815:S831C;ENSP00000418996:S680C	ENSP00000416561:S329C	S	+	1	0	CFB;XXbac-BPG116M5.17	32024217	0.996000	0.38824	0.882000	0.34594	0.002000	0.02628	4.491000	0.60326	2.152000	0.67230	0.260000	0.18958	AGC		0.478	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		17	111	0	0	0	0.004007	0	17	111				
NOTCH4	4855	broad.mit.edu	37	6	32168733	32168733	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:32168733G>A	ENST00000375023.3	-	23	4328	c.4190C>T	c.(4189-4191)cCg>cTg	p.P1397L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1397					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.P1397L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCGGGATGCCGGGTGGTCAGG	0.632																																							uc003obb.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(4189-4191)CCG>CTG		notch4 preproprotein							67.0	47.0	54.0					6																	32168733		1511	2709	4220	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32168733G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4190C>T	6.37:g.32168733G>A	ENSP00000364163:p.Pro1397Leu					NOTCH4_uc003oba.2_Missense_Mutation_p.P60L|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.P1397L	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			23	4329	-			1397			Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.4190C>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743268	0.49151	.	.	ENSG00000204301	ENST00000375023	T	0.30981	1.51	4.74	3.86	0.44501	Notch, NODP domain (1);	0.183732	0.26546	N	0.023771	T	0.11153	0.0272	N	0.14661	0.345	0.21841	N	0.999516	B;P	0.50272	0.088;0.933	B;P	0.48524	0.095;0.58	T	0.03364	-1.1044	10	0.56958	D	0.05	.	8.645	0.34000	0.1039:0.0:0.8961:0.0	.	1397;1396	Q99466;B0S882	NOTC4_HUMAN;.	L	1397	ENSP00000364163:P1397L	ENSP00000364163:P1397L	P	-	2	0	NOTCH4	32276711	0.519000	0.26242	0.112000	0.21494	0.953000	0.61014	2.909000	0.48758	1.238000	0.43771	0.456000	0.33151	CCG		0.632	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			9	44	0	0	0	0.006214	0	9	44				
TFEB	7942	broad.mit.edu	37	6	41658482	41658482	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:41658482G>A	ENST00000230323.4	-	4	688	c.387C>T	c.(385-387)caC>caT	p.H129H	TFEB_ENST00000420312.1_Intron|TFEB_ENST00000358871.2_Silent_p.H143H|TFEB_ENST00000394283.1_Silent_p.H129H|TFEB_ENST00000403298.4_Silent_p.H129H|TFEB_ENST00000373033.1_Silent_p.H129H	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	129				GSPKPPPAASPGVRAGHVLSSSAGNSAPN -> ALRNPHQP PPQGCELDTCCPPPLATVLPI (in Ref. 1; AAA36730). {ECO:0000305}.	autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.H129H(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			AGGACAGCACGTGTCCAGCTC	0.637			T	ALPHA	renal (childhood epithelioid)																																		uc003oqs.1		NA		Dom	yes		6	6p21	7942	T	transcription factor EB			"""E,M"""	ALPHA		renal (childhood epithelioid)		2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(385-387)CAC>CAT		transcription factor EB							48.0	49.0	48.0					6																	41658482		2203	4300	6503	SO:0001819	synonymous_variant	7942				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr6:41658482G>A	M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.387C>T	6.37:g.41658482G>A						TFEB_uc003oqt.1_Silent_p.H129H|TFEB_uc003oqu.1_Silent_p.H143H|TFEB_uc003oqv.1_Silent_p.H129H|TFEB_uc010jxo.1_Silent_p.H129H|TFEB_uc003oqx.1_Silent_p.H129H|TFEB_uc003oqr.1_Intron|TFEB_uc003oqw.1_Silent_p.H129H	p.H129H	NM_007162	NP_009093	P19484	TFEB_HUMAN	Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		4	689	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		129	GSPKPPPAASPGVRAGHVLSSSAGNSAPN -> ALRNPHQP PPQGCELDTCCPPPLATVLPI (in Ref. 1; AAA36730).				Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Silent	SNP	ENST00000230323.4	37	c.387C>T	CCDS4858.1																																																																																				0.637	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3			15	50	0	0	0	0.00499	0	15	50				
MRPL2	51069	broad.mit.edu	37	6	43023909	43023909	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:43023909C>A	ENST00000388752.3	-	4	854	c.430G>T	c.(430-432)Ggg>Tgg	p.G144W	MRPL2_ENST00000489623.1_Intron|MRPL2_ENST00000230413.5_Missense_Mutation_p.G144W|CUL7_ENST00000265348.3_5'Flank|CUL7_ENST00000535468.1_5'Flank	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	144					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.G144W(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		CGGCTGCCCCCAGCAACCAGA	0.522																																							uc003ots.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(430-432)GGG>TGG		mitochondrial ribosomal protein L2 precursor							116.0	107.0	110.0					6																	43023909		2203	4300	6503	SO:0001583	missense	51069				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:43023909C>A	AB051617	CCDS34454.1, CCDS75458.1	6p21.3	2012-09-13			ENSG00000112651	ENSG00000112651		"""Mitochondrial ribosomal proteins / large subunits"""	14056	protein-coding gene	gene with protein product		611822					Standard	XM_005249161		Approved	MRP-L14, RPML14, CGI-22	uc003ots.1	Q5T653	OTTHUMG00000014719	ENST00000388752.3:c.430G>T	6.37:g.43023909C>A	ENSP00000373404:p.Gly144Trp					CUL7_uc011dvb.1_5'Flank|CUL7_uc003otq.2_5'Flank|CUL7_uc010jyh.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.1_Missense_Mutation_p.G144W	p.G144W	NM_015950	NP_057034	Q5T653	RM02_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)	4	553	-		Ovarian(999;0.0014)	144					B2RC56|Q8WUL1|Q96Q56|Q9Y311	Missense_Mutation	SNP	ENST00000388752.3	37	c.430G>T	CCDS34454.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914603	0.92178	.	.	ENSG00000112651	ENST00000388752;ENST00000230413	T	0.46451	0.87	5.7	5.7	0.88788	Nucleic acid-binding, OB-fold-like (1);Ribosomal Proteins L2, RNA binding domain (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.66056	0.2751	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71586	-0.4548	10	0.87932	D	0	-15.9627	18.0157	0.89239	0.0:1.0:0.0:0.0	.	144;144	B4DVE2;Q5T653	.;RM02_HUMAN	W	144	ENSP00000373404:G144W	ENSP00000230413:G144W	G	-	1	0	MRPL2	43131887	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.426000	0.80270	2.687000	0.91594	0.655000	0.94253	GGG		0.522	MRPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040577.2			26	118	1	0	4.43304e-23	0.00632	6.9699e-23	26	118				
AARS2	57505	broad.mit.edu	37	6	44270894	44270894	+	Missense_Mutation	SNP	G	G	A	rs145436818	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:44270894G>A	ENST00000244571.4	-	16	2166	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000491573.1_5'Flank|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.R722W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GATACCACCCGCACAGGGTCT	0.607													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		18526	0.0		0.0	False		,,,				2504	0.0						uc010jza.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2164-2166)CGG>TGG		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)	G	TRP/ARG	11,4395	17.9+/-39.9	0,11,2192	56.0	56.0	56.0		2164	5.3	1.0	6	dbSNP_134	56	0,8600		0,0,4300	yes	missense	AARS2	NM_020745.2	101	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	probably-damaging	722/986	44270894	11,12995	2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44270894G>A	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2164C>T	6.37:g.44270894G>A	ENSP00000244571:p.Arg722Trp					SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.R722W	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		16	2167	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		722						Missense_Mutation	SNP	ENST00000244571.4	37	c.2164C>T	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236023	0.79800	0.002497	0.0	ENSG00000124608	ENST00000244571	T	0.73681	-0.77	5.26	5.26	0.73747	Threonyl/alanyl tRNA synthetase, SAD (2);Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	D	0.89174	0.6640	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91733	0.5398	10	0.87932	D	0	-39.3663	14.8879	0.70584	0.0:0.0:0.8479:0.1521	.	722	Q5JTZ9	SYAM_HUMAN	W	722	ENSP00000244571:R722W	ENSP00000244571:R722W	R	-	1	2	AARS2	44378872	1.000000	0.71417	0.992000	0.48379	0.786000	0.44442	3.161000	0.50747	2.733000	0.93635	0.655000	0.94253	CGG		0.607	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		12	59	0	0	0	0.001855	0	12	59				
GPR116	221395	broad.mit.edu	37	6	46826211	46826211	+	Silent	SNP	C	C	A	rs142588297	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:46826211C>A	ENST00000283296.7	-	17	3717	c.3429G>T	c.(3427-3429)tcG>tcT	p.S1143S	GPR116_ENST00000545669.1_Silent_p.S572S|GPR116_ENST00000456426.2_Silent_p.S1001S|GPR116_ENST00000265417.7_Silent_p.S1143S|GPR116_ENST00000362015.4_Silent_p.S1143S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1143					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S1143S(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GCGTGATGACCGAGATGGCAA	0.552													C|||	2	0.000399361	0.0	0.0029	5008	,	,		19996	0.0		0.0	False		,,,				2504	0.0				NSCLC(59;410 1274 8751 36715 50546)	NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(3427-3429)TCG>TCT		G-protein coupled receptor 116 precursor							32.0	33.0	33.0					6																	46826211		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826211C>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3429G>T	6.37:g.46826211C>A						GPR116_uc011dwj.1_Silent_p.S698S|GPR116_uc011dwk.1_Silent_p.S572S|GPR116_uc003oyp.3_Silent_p.S1001S|GPR116_uc003oyq.3_Silent_p.S1143S|GPR116_uc010jzi.1_Silent_p.S815S	p.S1143S	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3718	-			1143			Helical; Name=4; (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.3429G>T	CCDS4919.1																																																																																				0.552	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		14	32	1	0	4.3838e-07	0.001855	5.25178e-07	14	32				
PGK2	5232	broad.mit.edu	37	6	49754060	49754060	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:49754060T>A	ENST00000304801.3	-	1	993	c.841A>T	c.(841-843)Act>Tct	p.T281S		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	281					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.T281S(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					ACAGGAAAAGTAATCCTTACA	0.443																																							uc003ozu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(841-843)ACT>TCT		phosphoglycerate kinase 2							143.0	140.0	141.0					6																	49754060		2203	4300	6503	SO:0001583	missense	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754060T>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.841A>T	6.37:g.49754060T>A	ENSP00000305995:p.Thr281Ser						p.T281S	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	948	-	Lung NSC(77;0.0402)		281					B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	c.841A>T	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.378017	0.24944	.	.	ENSG00000170950	ENST00000304801	D	0.91843	-2.92	4.09	4.09	0.47781	Phosphoglycerate kinase, C-terminal (1);	0.145306	0.64402	N	0.000009	D	0.84777	0.5547	L	0.45352	1.415	0.36176	D	0.849074	B	0.19583	0.037	B	0.32211	0.142	D	0.83820	0.0246	10	0.48119	T	0.1	-7.4494	11.6557	0.51318	0.0:0.0:0.0:1.0	.	281	P07205	PGK2_HUMAN	S	281	ENSP00000305995:T281S	ENSP00000305995:T281S	T	-	1	0	PGK2	49862019	1.000000	0.71417	0.838000	0.33150	0.530000	0.34684	7.252000	0.78309	2.070000	0.61991	0.477000	0.44152	ACT		0.443	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			32	284	0	0	0	0.002445	0	32	284				
PKHD1	5314	broad.mit.edu	37	6	51751937	51751937	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:51751937C>A	ENST00000371117.3	-	44	7378	c.7103G>T	c.(7102-7104)tGt>tTt	p.C2368F	PKHD1_ENST00000340994.4_Missense_Mutation_p.C2368F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2368					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.C2368F(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTACCTGGTACAAGAATGTGC	0.413																																							uc003pah.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(7102-7104)TGT>TTT		fibrocystin isoform 1							132.0	115.0	121.0					6																	51751937		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51751937C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7103G>T	6.37:g.51751937C>A	ENSP00000360158:p.Cys2368Phe					PKHD1_uc010jzn.1_Missense_Mutation_p.C351F|PKHD1_uc003pai.2_Missense_Mutation_p.C2368F	p.C2368F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			44	7379	-	Lung NSC(77;0.0605)		2368			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.7103G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911646	0.52439	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.80214	-1.35;-1.35	5.8	5.8	0.92144	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	D	0.87981	0.6315	M	0.78049	2.395	0.44619	D	0.997593	D;P;D	0.89917	1.0;0.649;0.999	D;B;D	0.97110	1.0;0.33;0.985	D	0.86412	0.1749	10	0.40728	T	0.16	.	17.2168	0.86946	0.0:1.0:0.0:0.0	.	2368;2368;2368	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	F	2368	ENSP00000360158:C2368F;ENSP00000341097:C2368F	ENSP00000341097:C2368F	C	-	2	0	PKHD1	51859896	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	4.576000	0.60915	2.755000	0.94549	0.655000	0.94253	TGT		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		4	62	1	0	1.6384e-10	0.001984	2.13627e-10	4	62				
MLIP	90523	broad.mit.edu	37	6	54025355	54025355	+	Silent	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:54025355C>G	ENST00000274897.5	+	6	905	c.792C>G	c.(790-792)ctC>ctG	p.L264L	MLIP_ENST00000370876.2_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000514921.1_Silent_p.L788L|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000502396.1_Silent_p.L799L	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	264						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.L264L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CTGAAGAGCTCTGTGCTACCA	0.393																																							uc003pcg.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(790-792)CTC>CTG		hypothetical protein LOC90523							72.0	67.0	68.0					6																	54025355		2203	4300	6503	SO:0001819	synonymous_variant	90523					nuclear envelope|PML body	protein binding	g.chr6:54025355C>G	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.792C>G	6.37:g.54025355C>G						C6orf142_uc003pcf.2_Silent_p.L788L|C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Silent_p.L799L	p.L264L	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN			6	905	+	Lung NSC(77;0.0317)		264					B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	ENST00000274897.5	37	c.792C>G	CCDS4954.1																																																																																				0.393	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		9	41	0	0	0	0.000978	0	9	41				
HCRTR2	3062	broad.mit.edu	37	6	55113470	55113470	+	Missense_Mutation	SNP	G	G	T	rs202073158		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:55113470G>T	ENST00000370862.3	+	2	593	c.257G>T	c.(256-258)aGg>aTg	p.R86M		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	86					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.R86M(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CACCACATGAGGACGGTAACC	0.453																																							uc003pcl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(256-258)AGG>ATG		orexin receptor 2							200.0	177.0	185.0					6																	55113470		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113470G>T	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.257G>T	6.37:g.55113470G>T	ENSP00000359899:p.Arg86Met					HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.R21M	p.R86M	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	572	+	Lung NSC(77;0.107)|Renal(3;0.122)		86			Cytoplasmic (Potential).		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.257G>T	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700345	0.88924	.	.	ENSG00000137252	ENST00000370862	T	0.45276	0.9	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76786	0.4036	H	0.98446	4.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86633	0.1887	10	0.87932	D	0	.	18.8648	0.92287	0.0:0.0:1.0:0.0	.	86;86	Q548Y0;O43614	.;OX2R_HUMAN	M	86	ENSP00000359899:R86M	ENSP00000359899:R86M	R	+	2	0	HCRTR2	55221429	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.476000	0.97823	2.461000	0.83175	0.650000	0.86243	AGG		0.453	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			13	139	1	0	3.27435e-08	0.00245	4.07685e-08	13	139				
KHDRBS2	202559	broad.mit.edu	37	6	62611152	62611152	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:62611152G>A	ENST00000281156.4	-	5	886	c.608C>T	c.(607-609)tCa>tTa	p.S203L		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	203					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.S203L(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)		AATGTACCTTGAAGGAGCTGT	0.403																																							uc003peg.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(3)|liver(1)	11						c.(607-609)TCA>TTA		KH domain-containing, RNA-binding, signal							106.0	106.0	106.0					6																	62611152		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62611152G>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.608C>T	6.37:g.62611152G>A	ENSP00000281156:p.Ser203Leu						p.S203L	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	5	855	-			203					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.608C>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601981	0.66445	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.45276	0.9	5.88	5.88	0.94601	.	0.337674	0.31847	N	0.006970	T	0.21801	0.0525	N	0.19112	0.55	0.45806	D	0.998682	B	0.24533	0.105	B	0.24006	0.05	T	0.03818	-1.1001	10	0.48119	T	0.1	.	20.2228	0.98330	0.0:0.0:1.0:0.0	.	203	Q5VWX1	KHDR2_HUMAN	L	203	ENSP00000281156:S203L	ENSP00000281156:S203L	S	-	2	0	KHDRBS2	62669111	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.469000	0.80959	2.789000	0.95967	0.655000	0.94253	TCA		0.403	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		15	120	0	0	0	0.004007	0	15	120				
B3GAT2	135152	broad.mit.edu	37	6	71571616	71571616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:71571616G>A	ENST00000230053.6	-	3	1410	c.802C>T	c.(802-804)Cag>Tag	p.Q268*	SMAP1_ENST00000370455.3_3'UTR	NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	268					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.Q268*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						ATCCCTGGCTGGGATCCACGA	0.363																																							uc003pfv.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(802-804)CAG>TAG		beta-1,3-glucuronyltransferase 2							131.0	132.0	132.0					6																	71571616		2203	4300	6503	SO:0001587	stop_gained	135152				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr6:71571616G>A	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.802C>T	6.37:g.71571616G>A	ENSP00000230053:p.Gln268*					SMAP1_uc003pfr.2_3'UTR|SMAP1_uc003pfs.2_3'UTR|SMAP1_uc010kao.2_3'UTR|SMAP1_uc010kap.2_3'UTR|B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Nonsense_Mutation_p.Q268*	p.Q268*	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN			3	1458	-			268			Lumenal (Potential).		Q5JS09|Q8TF38|Q96NK4	Nonsense_Mutation	SNP	ENST00000230053.6	37	c.802C>T	CCDS4974.1	.	.	.	.	.	.	.	.	.	.	G	41	8.707909	0.98922	.	.	ENSG00000112309	ENST00000230053	.	.	.	5.25	5.25	0.73442	.	0.059090	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.6384	18.8266	0.92122	0.0:0.0:1.0:0.0	.	.	.	.	X	268	.	ENSP00000230053:Q268X	Q	-	1	0	B3GAT2	71628337	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.695000	0.84257	2.431000	0.82371	0.650000	0.86243	CAG		0.363	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2	NM_080742		13	88	0	0	0	0.00245	0	13	88				
TTK	7272	broad.mit.edu	37	6	80745021	80745021	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:80745021G>T	ENST00000369798.2	+	16	1922	c.1811G>T	c.(1810-1812)tGt>tTt	p.C604F	TTK_ENST00000509894.1_Missense_Mutation_p.C603F|TTK_ENST00000230510.3_Missense_Mutation_p.C603F	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	604	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.C604F(1)|p.C588F(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GTAATGGAGTGTGGAAATATT	0.328																																							uc003pjc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11						c.(1810-1812)TGT>TTT		TTK protein kinase							117.0	113.0	114.0					6																	80745021		2203	4300	6503	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80745021G>T		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1811G>T	6.37:g.80745021G>T	ENSP00000358813:p.Cys604Phe					TTK_uc003pjb.3_Missense_Mutation_p.C603F	p.C604F	NM_003318	NP_003309	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	16	1885	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	604			Protein kinase.		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.1811G>T	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092857	0.56075	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.71579	-0.58;-0.58;-0.58	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.087445	0.85682	D	0.000000	T	0.70552	0.3237	N	0.26092	0.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.985;0.994	T	0.68758	-0.5324	10	0.33141	T	0.24	.	18.6865	0.91567	0.0:0.0:1.0:0.0	.	604;603	P33981;A8K8U5	TTK_HUMAN;.	F	603;603;604	ENSP00000422936:C603F;ENSP00000230510:C603F;ENSP00000358813:C604F	ENSP00000230510:C603F	C	+	2	0	TTK	80801740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.357000	0.97099	2.669000	0.90835	0.460000	0.39030	TGT		0.328	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			8	82	1	0	0.000442599	0.006214	0.00048004	8	82				
FAM46A	55603	broad.mit.edu	37	6	82461348	82461348	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:82461348C>T	ENST00000320172.6	-	2	825	c.511G>A	c.(511-513)Gag>Aag	p.E171K	FAM46A_ENST00000369754.3_Missense_Mutation_p.E190K|FAM46A_ENST00000369756.3_Missense_Mutation_p.E252K	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	171					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)	p.E171K(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TTCACCCCCTCGGGTAAGAAG	0.597																																							uc003pjg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(511-513)GAG>AAG		hypothetical protein LOC55603							119.0	99.0	106.0					6																	82461348		2203	4300	6503	SO:0001583	missense	55603							g.chr6:82461348C>T	AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"""chromosome 6 open reading frame 37"""	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.511G>A	6.37:g.82461348C>T	ENSP00000318298:p.Glu171Lys					FAM46A_uc003pjf.2_Missense_Mutation_p.E190K|FAM46A_uc003pjh.1_Missense_Mutation_p.E171K	p.E171K	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0428)	2	829	-		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)	171					A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	ENST00000320172.6	37	c.511G>A	CCDS34489.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.99|17.99	3.522658|3.522658	0.64747|0.64747	.|.	.|.	ENSG00000112773|ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756|ENST00000412306	T;T;T|.	0.23552|.	1.9;1.9;1.9|.	5.28|5.28	5.28|5.28	0.74379|0.74379	Domain of unknown function DUF1693 (1);|.	0.146424|.	0.64402|.	D|.	0.000009|.	T|T	0.51210|0.51210	0.1661|0.1661	L|L	0.37697|0.37697	1.125|1.125	0.80722|0.80722	D|D	1|1	P;P|.	0.52061|.	0.95;0.938|.	B;B|.	0.40702|.	0.338;0.228|.	T|T	0.42548|0.42548	-0.9445|-0.9445	10|5	0.31617|.	T|.	0.26|.	-12.7593|-12.7593	18.7079|18.7079	0.91645|0.91645	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	171;190|.	Q96IP4;Q96IP4-2|.	FA46A_HUMAN;.|.	K|Q	190;171;252|61	ENSP00000358769:E190K;ENSP00000318298:E171K;ENSP00000358771:E252K|.	ENSP00000318298:E171K|.	E|R	-|-	1|2	0|0	FAM46A|FAM46A	82518067|82518067	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.376000|0.376000	0.30014|0.30014	7.645000|7.645000	0.83430|0.83430	2.738000|2.738000	0.93877|0.93877	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.597	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1			13	134	0	0	0	0.001368	0	13	134				
BVES	11149	broad.mit.edu	37	6	105581345	105581345	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:105581345G>C	ENST00000314641.5	-	2	324	c.108C>G	c.(106-108)aaC>aaG	p.N36K	BVES_ENST00000446408.2_Missense_Mutation_p.N36K|BVES_ENST00000336775.5_Missense_Mutation_p.N36K|BVES-AS1_ENST00000580511.1_RNA	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	36					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)	p.N36K(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TCTCTCTCCAGTTTTCACAAG	0.378																																							uc003pqw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(106-108)AAC>AAG		blood vessel epicardial substance isoform 5							133.0	129.0	130.0					6																	105581345		2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105581345G>C	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.108C>G	6.37:g.105581345G>C	ENSP00000313172:p.Asn36Lys					BVES_uc003pqx.2_Missense_Mutation_p.N36K|BVES_uc003pqy.2_Missense_Mutation_p.N36K	p.N36K	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN			2	265	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	36			Extracellular (Potential).		A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.108C>G	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	G	9.481	1.098133	0.20552	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.16597	2.33;2.33;2.33	5.8	4.92	0.64577	.	0.160312	0.56097	D	0.000031	T	0.08670	0.0215	M	0.70595	2.14	0.43874	D	0.99648	B	0.31435	0.323	B	0.27380	0.079	T	0.11542	-1.0583	10	0.07175	T	0.84	-3.7302	18.0065	0.89211	0.0642:0.0:0.9358:0.0	.	36	Q8NE79	POPD1_HUMAN	K	36	ENSP00000313172:N36K;ENSP00000337259:N36K;ENSP00000397310:N36K	ENSP00000313172:N36K	N	-	3	2	BVES	105688038	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.768000	0.47645	0.807000	0.34208	-1.151000	0.01829	AAC		0.378	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		13	119	0	0	0	0.004007	0	13	119				
BVES	11149	broad.mit.edu	37	6	105581378	105581378	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:105581378T>A	ENST00000314641.5	-	2	291	c.75A>T	c.(73-75)atA>atT	p.I25I	BVES_ENST00000446408.2_Silent_p.I25I|BVES_ENST00000336775.5_Silent_p.I25I|BVES-AS1_ENST00000580511.1_RNA	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	25					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)	p.I25I(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AAGGCACAGGTATGATACTTT	0.363																																							uc003pqw.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(73-75)ATA>ATT		blood vessel epicardial substance isoform 5							141.0	140.0	140.0					6																	105581378		2203	4300	6503	SO:0001819	synonymous_variant	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105581378T>A	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.75A>T	6.37:g.105581378T>A						BVES_uc003pqx.2_Silent_p.I25I|BVES_uc003pqy.2_Silent_p.I25I	p.I25I	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN			2	232	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	25			Extracellular (Potential).		A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Silent	SNP	ENST00000314641.5	37	c.75A>T	CCDS5051.1																																																																																				0.363	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		17	119	0	0	0	0.004007	0	17	119				
GSTM2P1	442245	broad.mit.edu	37	6	111368494	111368494	+	IGR	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:111368494C>T								RPF2 (21191 upstream) : SLC16A10 (40286 downstream)																							CAATGCAGCCCAGGATGGCCT	0.527																																							uc003puq.2		NA																	0					0						c.(127-129)CTG>CTA		Homo sapiens chromosome 1 truncated glutathione S-transferase M1 mRNA, complete cds.																																				SO:0001628	intergenic_variant	442245							g.chr6:111368494C>T																													6.37:g.111368494C>T							p.L43L	NR_002932						1	264	-									Silent	SNP		37	c.129G>A																																																																																				0	0.527									8	126	0	0	0	0.006214	0	8	126				
REV3L	5980	broad.mit.edu	37	6	111695285	111695285	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:111695285T>A	ENST00000358835.3	-	14	4727	c.4273A>T	c.(4273-4275)Agt>Tgt	p.S1425C	REV3L_ENST00000368805.1_Missense_Mutation_p.S1425C|REV3L_ENST00000435970.1_Missense_Mutation_p.S1347C|REV3L_ENST00000368802.3_Missense_Mutation_p.S1425C			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1425					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.S1425C(1)|p.S1347C(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGCTGCTGACTGTCTTTGCAA	0.403								DNA polymerases (catalytic subunits)																															uc003puy.3		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|skin(2)	6						c.(4273-4275)AGT>TGT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							163.0	143.0	150.0					6																	111695285		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111695285T>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4273A>T	6.37:g.111695285T>A	ENSP00000351697:p.Ser1425Cys					REV3L_uc003pux.3_Missense_Mutation_p.S1347C|REV3L_uc003puz.3_Missense_Mutation_p.S1347C	p.S1425C	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	4596	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1425					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.4273A>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	17.00	3.277273	0.59758	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01705	4.77;4.77;4.77;4.68	6.03	6.03	0.97812	Ribonuclease H-like (1);	1.345240	0.04415	N	0.366678	T	0.03305	0.0096	L	0.47716	1.5	0.37155	D	0.902347	D	0.63880	0.993	P	0.53185	0.72	T	0.27434	-1.0074	10	0.87932	D	0	-7.1056	16.5724	0.84622	0.0:0.0:0.0:1.0	.	1425	O60673	DPOLZ_HUMAN	C	1425;1425;1425;1347	ENSP00000357792:S1425C;ENSP00000357795:S1425C;ENSP00000351697:S1425C;ENSP00000402003:S1347C	ENSP00000351697:S1425C	S	-	1	0	REV3L	111801978	1.000000	0.71417	0.985000	0.45067	0.869000	0.49853	5.857000	0.69525	2.313000	0.78055	0.455000	0.32223	AGT		0.403	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		21	205	0	0	0	0.00278	0	21	205				
LAMA4	3910	broad.mit.edu	37	6	112462651	112462651	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:112462651A>G	ENST00000230538.7	-	21	3119	c.2722T>C	c.(2722-2724)Tat>Cat	p.Y908H	LAMA4_ENST00000389463.4_Missense_Mutation_p.Y901H|LAMA4_ENST00000522006.1_Missense_Mutation_p.Y901H|LAMA4_ENST00000424408.2_Missense_Mutation_p.Y901H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	908	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.Y901H(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCCAAATTATAGACGTATACC	0.373																																							uc003pvu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(2722-2724)TAT>CAT		laminin, alpha 4 isoform 1 precursor							106.0	107.0	107.0					6																	112462651		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112462651A>G		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2722T>C	6.37:g.112462651A>G	ENSP00000230538:p.Tyr908His					LAMA4_uc003pvv.2_Missense_Mutation_p.Y901H|LAMA4_uc003pvt.2_Missense_Mutation_p.Y901H	p.Y908H	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	21	3031	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	908			Laminin G-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2722T>C	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.564919	0.65651	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	5.66	5.66	0.87406	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.056265	0.64402	D	0.000001	D	0.88793	0.6533	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90674	0.4600	10	0.87932	D	0	.	15.9642	0.79952	1.0:0.0:0.0:0.0	.	908;901	Q16363;Q16363-2	LAMA4_HUMAN;.	H	908;901;901;901	ENSP00000230538:Y908H;ENSP00000429488:Y901H;ENSP00000374114:Y901H;ENSP00000416470:Y901H	ENSP00000230538:Y908H	Y	-	1	0	LAMA4	112569344	1.000000	0.71417	0.782000	0.31804	0.263000	0.26337	8.879000	0.92398	2.167000	0.68274	0.451000	0.29950	TAT		0.373	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		5	79	0	0	0	0.000602	0	5	79				
GPRC6A	222545	broad.mit.edu	37	6	117121902	117121902	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:117121902C>T	ENST00000310357.3	-	4	1414	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N	GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Missense_Mutation_p.D290N	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	465					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D465N(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CCGTGAGCATCAAAATGAAAT	0.343																																							uc003pxj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1393-1395)GAT>AAT		G protein-coupled receptor, family C, group 6,							103.0	97.0	99.0					6																	117121902		2203	4300	6503	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117121902C>T	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1393G>A	6.37:g.117121902C>T	ENSP00000309493:p.Asp465Asn					GPRC6A_uc003pxk.1_Missense_Mutation_p.D290N|GPRC6A_uc003pxl.1_Intron	p.D465N	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	4	1415	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	465			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.1393G>A	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631718	0.67015	.	.	ENSG00000173612	ENST00000310357;ENST00000530250	D;D	0.89270	-2.49;-2.49	5.45	4.57	0.56435	Extracellular ligand-binding receptor (1);	0.000000	0.53938	D	0.000045	D	0.83105	0.5182	L	0.55213	1.73	0.53005	D	0.999963	P;P	0.40638	0.725;0.524	B;B	0.40602	0.334;0.255	D	0.84981	0.0888	10	0.52906	T	0.07	.	15.7336	0.77825	0.1376:0.8623:0.0:0.0	.	290;465	Q5T6X5-2;Q5T6X5	.;GPC6A_HUMAN	N	465;290	ENSP00000309493:D465N;ENSP00000433465:D290N	ENSP00000309493:D465N	D	-	1	0	GPRC6A	117228595	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	1.907000	0.39897	1.518000	0.48934	0.585000	0.79938	GAT		0.343	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			14	74	0	0	0	0.004007	0	14	74				
DCBLD1	285761	broad.mit.edu	37	6	117864321	117864321	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:117864321G>T	ENST00000338728.5	+	12	1512	c.1392G>T	c.(1390-1392)gtG>gtT	p.V464V	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000534777.1_Intron|DCBLD1_ENST00000368503.4_Silent_p.V265V|DCBLD1_ENST00000296955.8_Silent_p.V464V			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	464					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.V464V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TTCCATTGGTGCTCCTTGTTG	0.378																																							uc003pxs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1390-1392)GTG>GTT		discoidin, CUB and LCCL domain containing 1							287.0	264.0	272.0					6																	117864321		2203	4300	6503	SO:0001819	synonymous_variant	285761				cell adhesion	integral to membrane		g.chr6:117864321G>T	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.1392G>T	6.37:g.117864321G>T						GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.V464V|DCBLD1_uc003pxt.1_Silent_p.V119V	p.V464V	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	12	1517	+		all_cancers(87;0.171)	464			Helical; (Potential).		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Silent	SNP	ENST00000338728.5	37	c.1392G>T																																																																																					0.378	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		39	313	1	0	3.86361e-14	0.00361	5.46076e-14	39	313				
LAMA2	3908	broad.mit.edu	37	6	129637025	129637025	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:129637025G>T	ENST00000421865.2	+	26	3903	c.3854G>T	c.(3853-3855)aGa>aTa	p.R1285I		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1285	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.R1285I(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACTCATGCTAGAATTATCGTC	0.413																																							uc003qbn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(3853-3855)AGA>ATA		laminin alpha 2 subunit isoform a precursor							113.0	113.0	113.0					6																	129637025		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129637025G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3854G>T	6.37:g.129637025G>T	ENSP00000400365:p.Arg1285Ile					LAMA2_uc003qbo.2_Missense_Mutation_p.R1285I	p.R1285I	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	26	3959	+			1285			Laminin IV type A 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3854G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648925	0.47362	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.34072	1.38	5.55	5.55	0.83447	Laminin B type IV (2);Laminin B, subgroup (1);	0.106321	0.64402	D	0.000004	T	0.18002	0.0432	N	0.19112	0.55	0.80722	D	1	B;B	0.22851	0.069;0.076	B;B	0.28011	0.085;0.043	T	0.03807	-1.1002	10	0.34782	T	0.22	.	19.8741	0.96863	0.0:0.0:1.0:0.0	.	1285;1285	A6NF00;P24043	.;LAMA2_HUMAN	I	1285	ENSP00000400365:R1285I	ENSP00000346769:R1285I	R	+	2	0	LAMA2	129678718	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.296000	0.65698	2.761000	0.94854	0.655000	0.94253	AGA		0.413	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			29	107	1	0	5.45727e-16	0.008361	7.88923e-16	29	107				
LAMA2	3908	broad.mit.edu	37	6	129777622	129777622	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:129777622C>A	ENST00000421865.2	+	48	6899	c.6850C>A	c.(6850-6852)Ctg>Atg	p.L2284M		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2284	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.L2284M(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGTTGGTGGCCTGACTGGGAA	0.443																																							uc003qbn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(6850-6852)CTG>ATG		laminin alpha 2 subunit isoform a precursor							299.0	250.0	267.0					6																	129777622		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129777622C>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6850C>A	6.37:g.129777622C>A	ENSP00000400365:p.Leu2284Met					LAMA2_uc003qbo.2_Missense_Mutation_p.L2284M	p.L2284M	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	47	6955	+			2284			Laminin G-like 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.6850C>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231437	0.58777	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.79352	-1.26	5.82	0.98	0.19750	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.170075	0.51477	D	0.000081	T	0.69878	0.3160	L	0.32530	0.975	0.39001	D	0.959359	D;D	0.76494	0.999;0.998	D;D	0.74674	0.984;0.971	T	0.67952	-0.5537	9	.	.	.	.	9.8683	0.41157	0.0:0.4687:0.0:0.5313	.	2285;2284	A6NF00;P24043	.;LAMA2_HUMAN	M	2284;2283;2284;302	ENSP00000400365:L2284M	.	L	+	1	2	LAMA2	129819315	0.187000	0.23238	0.999000	0.59377	0.966000	0.64601	0.496000	0.22499	0.150000	0.19136	-0.484000	0.04775	CTG		0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			36	368	1	0	5.71845e-15	0.005524	8.17898e-15	36	368				
SAMD3	154075	broad.mit.edu	37	6	130465809	130465809	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:130465809A>T	ENST00000368134.2	-	14	2027	c.1419T>A	c.(1417-1419)ttT>ttA	p.F473L	SAMD3_ENST00000457563.2_Missense_Mutation_p.F497L|SAMD3_ENST00000437477.2_Missense_Mutation_p.F473L|RP11-73O6.3_ENST00000609978.1_RNA|RP11-73O6.3_ENST00000415964.1_RNA|SAMD3_ENST00000439090.2_Missense_Mutation_p.F473L	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	473								p.F473L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TAAATACATGAAAGGCAGCTA	0.423																																							uc003qbv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1417-1419)TTT>TTA		sterile alpha motif domain containing 3 isoform							90.0	85.0	87.0					6																	130465809		2203	4300	6503	SO:0001583	missense	154075							g.chr6:130465809A>T	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1419T>A	6.37:g.130465809A>T	ENSP00000357116:p.Phe473Leu					SAMD3_uc003qbx.2_Missense_Mutation_p.F473L|SAMD3_uc003qbw.2_Missense_Mutation_p.F473L	p.F473L	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	13	1745	-			473					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.1419T>A	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.565714	0.45694	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477	T;T;T;T	0.51574	0.73;0.7;0.73;0.73	5.29	-3.01	0.05463	.	0.000000	0.64402	D	0.000009	T	0.49029	0.1533	M	0.63843	1.955	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.58387	-0.7645	10	0.49607	T	0.09	.	13.5485	0.61717	0.4597:0.0:0.5403:0.0	.	473	Q8N6K7	SAMD3_HUMAN	L	473;497;473;473	ENSP00000357116:F473L;ENSP00000402092:F497L;ENSP00000403565:F473L;ENSP00000391163:F473L	ENSP00000357116:F473L	F	-	3	2	SAMD3	130507502	0.983000	0.35010	0.524000	0.27887	0.029000	0.11900	0.117000	0.15583	-0.436000	0.07254	0.460000	0.39030	TTT		0.423	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		34	71	0	0	0	0.003271	0	34	71				
TMEM200A	114801	broad.mit.edu	37	6	130762082	130762082	+	Missense_Mutation	SNP	C	C	A	rs149308469	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:130762082C>A	ENST00000296978.3	+	3	1386	c.515C>A	c.(514-516)aCg>aAg	p.T172K	TMEM200A_ENST00000545622.1_Missense_Mutation_p.T172K|TMEM200A_ENST00000392429.1_Missense_Mutation_p.T172K	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	172						integral component of membrane (GO:0016021)		p.T172K(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GACATTCACACGCTAAGAATC	0.413																																							uc003qca.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(514-516)ACG>AAG		transmembrane protein 200A							101.0	92.0	95.0					6																	130762082		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762082C>A	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.515C>A	6.37:g.130762082C>A	ENSP00000296978:p.Thr172Lys					TMEM200A_uc010kfh.2_Missense_Mutation_p.T172K|TMEM200A_uc010kfi.2_Missense_Mutation_p.T172K|TMEM200A_uc003qcb.2_Missense_Mutation_p.T172K	p.T172K	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1386	+			172			Cytoplasmic (Potential).		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.515C>A	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.940937	0.34283	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.6	4.73	0.59995	.	0.272658	0.38720	N	0.001594	T	0.34483	0.0899	L	0.47716	1.5	0.38763	D	0.954369	B	0.33583	0.418	B	0.32624	0.149	T	0.42396	-0.9454	9	0.66056	D	0.02	.	10.1155	0.42587	0.0:0.7916:0.1365:0.0718	.	172	Q86VY9	T200A_HUMAN	K	172	.	ENSP00000296978:T172K	T	+	2	0	TMEM200A	130803775	0.997000	0.39634	0.768000	0.31515	0.838000	0.47535	2.950000	0.49081	1.369000	0.46134	-0.140000	0.14226	ACG		0.413	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		10	103	1	0	4.68919e-08	0.008291	5.80489e-08	10	103				
ARG1	383	broad.mit.edu	37	6	131894469	131894469	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:131894469C>G	ENST00000368087.3	+	1	186	c.47C>G	c.(46-48)tCa>tGa	p.S16*	ARG1_ENST00000356962.2_Nonsense_Mutation_p.S16*|ARG1_ENST00000498260.1_3'UTR			P05089	ARGI1_HUMAN	arginase 1	16					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)	p.S16*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	GCTCCTTTCTCAAAGGGACAG	0.408																																							uc003qcp.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(46-48)TCA>TGA		arginase 1	L-Ornithine(DB00129)						101.0	98.0	99.0					6																	131894469		2203	4300	6503	SO:0001587	stop_gained	383				arginine catabolic process|urea cycle	cytosol	arginase activity	g.chr6:131894469C>G		CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"""arginase, liver"""			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.47C>G	6.37:g.131894469C>G	ENSP00000357066:p.Ser16*					ARG1_uc003qco.1_Nonsense_Mutation_p.S16*|ARG1_uc010kfm.1_Nonsense_Mutation_p.S16*	p.S16*	NM_000045	NP_000036	P05089	ARGI1_HUMAN		GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	1	105	+	Breast(56;0.0753)		16					A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Nonsense_Mutation	SNP	ENST00000368087.3	37	c.47C>G	CCDS5145.1	.	.	.	.	.	.	.	.	.	.	C	38	6.841920	0.97877	.	.	ENSG00000118520	ENST00000368087;ENST00000356962;ENST00000476845	.	.	.	5.99	5.99	0.97316	.	0.055398	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.8747	17.9695	0.89108	0.0:1.0:0.0:0.0	.	.	.	.	X	16	.	ENSP00000349446:S16X	S	+	2	0	ARG1	131936162	0.996000	0.38824	0.997000	0.53966	0.886000	0.51366	3.734000	0.55037	2.847000	0.97988	0.655000	0.94253	TCA		0.408	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042223.1			4	71	0	0	0	0.001168	0	4	71				
MOXD1	26002	broad.mit.edu	37	6	132619061	132619061	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:132619061T>A	ENST00000367963.3	-	11	1660	c.1542A>T	c.(1540-1542)caA>caT	p.Q514H	MOXD1_ENST00000336749.3_Missense_Mutation_p.Q446H	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	514						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.Q446H(1)|p.Q514H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GGTTTTTATATTGCTTGGGAC	0.368																																							uc003qdf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1540-1542)CAA>CAT		monooxygenase, DBH-like 1 isoform 2							74.0	71.0	72.0					6																	132619061		2203	4300	6503	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132619061T>A	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1542A>T	6.37:g.132619061T>A	ENSP00000356940:p.Gln514His					MOXD1_uc003qde.2_Missense_Mutation_p.Q446H	p.Q514H	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	11	1641	-	Breast(56;0.0495)		514			Lumenal (Potential).		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.1542A>T	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	T	13.16	2.154184	0.38021	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.50277	0.75;0.75	6.06	1.35	0.21983	.	0.071420	0.56097	D	0.000024	T	0.44117	0.1278	M	0.68317	2.08	0.80722	D	1	B;D	0.65815	0.126;0.995	B;P	0.61201	0.035;0.885	T	0.38478	-0.9659	10	0.41790	T	0.15	-24.9999	6.6349	0.22877	0.0:0.3868:0.0:0.6132	.	514;446	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	H	514;446	ENSP00000356940:Q514H;ENSP00000336998:Q446H	ENSP00000336998:Q446H	Q	-	3	2	MOXD1	132660754	0.994000	0.37717	1.000000	0.80357	0.990000	0.78478	0.131000	0.15870	0.362000	0.24319	-0.177000	0.13119	CAA		0.368	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		8	60	0	0	0	0.004482	0	8	60				
EYA4	2070	broad.mit.edu	37	6	133834083	133834083	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:133834083G>T	ENST00000367895.5	+	16	1872	c.1408G>T	c.(1408-1410)Ggt>Tgt	p.G470C	RP3-323P13.2_ENST00000451017.1_RNA|EYA4_ENST00000355167.3_Missense_Mutation_p.G470C|EYA4_ENST00000531901.1_Missense_Mutation_p.G476C|EYA4_ENST00000355286.6_Missense_Mutation_p.G447C|EYA4_ENST00000430974.2_Missense_Mutation_p.G422C|EYA4_ENST00000431403.2_Missense_Mutation_p.G470C|EYA4_ENST00000525849.1_Missense_Mutation_p.G447C|EYA4_ENST00000452339.2_Missense_Mutation_p.G416C|RP3-323P13.2_ENST00000607033.1_RNA	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	470					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.G470C(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TTTGCCAACAGGTGTAAGAGG	0.398																																					Melanoma(57;398 1237 3528 4702 7415)	Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)	2						c.(1408-1410)GGT>TGT		eyes absent 4 isoform a							85.0	89.0	88.0					6																	133834083		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133834083G>T	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1408G>T	6.37:g.133834083G>T	ENSP00000356870:p.Gly470Cys					EYA4_uc011ecq.1_Missense_Mutation_p.G416C|EYA4_uc011ecr.1_Missense_Mutation_p.G422C|EYA4_uc003qed.3_Missense_Mutation_p.G470C|EYA4_uc003qee.3_Missense_Mutation_p.G447C|EYA4_uc011ecs.1_Missense_Mutation_p.G476C|uc003qeg.1_Intron	p.G470C	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	16	1866	+	Colorectal(23;0.221)		470					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1408G>T	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606169	0.87157	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.41	5.41	0.78517	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.91236	0.7238	M	0.84219	2.685	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	0.998;1.0;1.0;1.0;0.998;0.997	D	0.91526	0.5238	10	0.66056	D	0.02	-21.7422	19.5625	0.95378	0.0:0.0:1.0:0.0	.	476;422;416;447;470;470	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	C	416;422;470;470;447;476;447;470	ENSP00000395916:G416C;ENSP00000388670:G422C;ENSP00000356870:G470C;ENSP00000347294:G470C;ENSP00000347434:G447C;ENSP00000432770:G476C;ENSP00000433219:G447C;ENSP00000404558:G470C	ENSP00000347294:G470C	G	+	1	0	EYA4	133875776	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.779000	0.99018	2.679000	0.91253	0.650000	0.86243	GGT		0.398	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		25	49	1	0	4.72057e-08	0.003954	5.83703e-08	25	49				
CCDC28A	25901	broad.mit.edu	37	6	139094657	139094657	+	5'UTR	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:139094657G>A	ENST00000332797.6	+	0	1					NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A											autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CTCACCGAGGGGCGGAGTAGC	0.557																																							uc003qid.1		NA																	0					NA						c.(31-33)CCC>TCC		Homo sapiens cDNA FLJ35273 fis, clone PROST2006020.																																				SO:0001623	5_prime_UTR_variant	0							g.chr6:139094657G>A	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.-155G>A	6.37:g.139094657G>A						CCDC28A_uc003qie.2_5'UTR	p.P11S							1	133	-								E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	c.31C>T	CCDS5192.1																																																																																				0.557	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		6	11	0	0	0	0.001168	0	6	11				
CCDC28A	25901	broad.mit.edu	37	6	139100986	139100986	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:139100986G>T	ENST00000332797.6	+	3	611	c.456G>T	c.(454-456)caG>caT	p.Q152H		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	152								p.Q152H(1)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CCAAACCTCAGGGTGGAGAGG	0.433																																							uc003qie.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(454-456)CAG>CAT		coiled-coil domain containing 28A							108.0	100.0	103.0					6																	139100986		2203	4300	6503	SO:0001583	missense	25901							g.chr6:139100986G>T	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.456G>T	6.37:g.139100986G>T	ENSP00000332716:p.Gln152His						p.Q152H	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	3	611	+			152					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	c.456G>T	CCDS5192.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668708	0.47677	.	.	ENSG00000024862	ENST00000332797;ENST00000026464	T	0.24350	1.86	5.96	2.21	0.28008	.	0.360445	0.32970	N	0.005435	T	0.05090	0.0136	L	0.38175	1.15	0.29142	N	0.878942	B	0.25772	0.134	B	0.17979	0.02	T	0.34079	-0.9843	10	0.38643	T	0.18	-12.1125	1.5436	0.02560	0.3549:0.1299:0.3814:0.1337	.	152	Q8IWP9	CC28A_HUMAN	H	152;39	ENSP00000332716:Q152H	ENSP00000026464:Q39H	Q	+	3	2	CCDC28A	139142679	0.744000	0.28250	0.753000	0.31225	0.925000	0.55904	-0.046000	0.11983	0.120000	0.18254	0.655000	0.94253	CAG		0.433	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		20	74	1	0	1.50039e-11	0.001882	2.01738e-11	20	74				
MTHFD1L	25902	broad.mit.edu	37	6	151413614	151413614	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:151413614G>T	ENST00000367321.3	+	27	3133	c.2859G>T	c.(2857-2859)atG>atT	p.M953I	RP1-292B18.4_ENST00000415477.1_RNA	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	953	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.M953I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGAGCACCATGCCAGGACTGC	0.458																																							uc003qob.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(2857-2859)ATG>ATT		methylenetetrahydrofolate dehydrogenase (NADP+							100.0	95.0	96.0					6																	151413614		2203	4300	6503	SO:0001583	missense	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151413614G>T	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2859G>T	6.37:g.151413614G>T	ENSP00000356290:p.Met953Ile					MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.M954I|MTHFD1L_uc003qoc.2_Missense_Mutation_p.M901I	p.M953I	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	27	3127	+		Ovarian(120;0.128)	953			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	c.2859G>T	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348197	0.41599	.	.	ENSG00000120254	ENST00000367321	T	0.25749	1.78	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.12944	0.0314	L	0.50333	1.59	0.80722	D	1	B;B;P	0.39717	0.016;0.024;0.684	B;B;B	0.31946	0.015;0.088;0.138	T	0.04855	-1.0922	10	0.20519	T	0.43	.	18.4037	0.90526	0.0:0.0:1.0:0.0	.	954;708;953	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	I	953	ENSP00000356290:M953I	ENSP00000356290:M953I	M	+	3	0	MTHFD1L	151455307	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.144000	0.71762	2.652000	0.90054	0.655000	0.94253	ATG		0.458	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		29	94	1	0	2.65835e-16	0.007291	3.87421e-16	29	94				
SYNE1	23345	broad.mit.edu	37	6	152599233	152599233	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:152599233G>A	ENST00000367255.5	-	98	19165	c.18564C>T	c.(18562-18564)ctC>ctT	p.L6188L	SYNE1_ENST00000448038.1_Silent_p.L6117L|SYNE1_ENST00000265368.4_Silent_p.L6188L|SYNE1_ENST00000341594.5_Silent_p.L5800L|SYNE1_ENST00000356820.4_Silent_p.L712L|SYNE1_ENST00000423061.1_Silent_p.L6117L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6188					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L6188L(2)|p.L6117L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGCATGTTGAGCTGCTTAT	0.577										HNSCC(10;0.0054)																													uc010kiw.2		NA																	3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(18562-18564)CTC>CTT		spectrin repeat containing, nuclear envelope 1							94.0	96.0	95.0					6																	152599233		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152599233G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18564C>T	6.37:g.152599233G>A		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.L712L|SYNE1_uc003qos.3_Silent_p.L712L|SYNE1_uc003qot.3_Silent_p.L6117L|SYNE1_uc003qou.3_Silent_p.L6188L|SYNE1_uc010kiy.1_Silent_p.L367L	p.L6188L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	98	19166	-		Ovarian(120;0.0955)	6188			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.18564C>T	CCDS5236.2																																																																																				0.577	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		19	205	0	0	0	0.006122	0	19	205				
SYNE1	23345	broad.mit.edu	37	6	152686025	152686025	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:152686025C>A	ENST00000367255.5	-	63	10703	c.10102G>T	c.(10102-10104)Gat>Tat	p.D3368Y	SYNE1_ENST00000448038.1_Missense_Mutation_p.D3375Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.D3368Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.D3407Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.D3375Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3368					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.D3368Y(2)|p.D3375Y(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCCCACATATCCTTCACACTC	0.438										HNSCC(10;0.0054)																													uc010kiw.2		NA																	3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(10102-10104)GAT>TAT		spectrin repeat containing, nuclear envelope 1							139.0	134.0	136.0					6																	152686025		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152686025C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10102G>T	6.37:g.152686025C>A	ENSP00000356224:p.Asp3368Tyr	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.D3375Y|SYNE1_uc003qou.3_Missense_Mutation_p.D3368Y|SYNE1_uc010kja.1_Missense_Mutation_p.D73Y	p.D3368Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	63	10704	-		Ovarian(120;0.0955)	3368			Spectrin 7.|HAT 6.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10102G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250350	0.59212	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.53640	1.22;1.22;1.22;1.22;0.61	5.28	5.28	0.74379	.	0.191869	0.35903	N	0.002901	T	0.57110	0.2031	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	D;D;D;D	0.70227	0.929;0.929;0.929;0.968	T	0.61446	-0.7061	10	0.66056	D	0.02	.	12.2914	0.54820	0.0:0.9224:0.0:0.0776	.	3368;3368;3368;3375	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Y	3368;3375;3368;3375;3407	ENSP00000356224:D3368Y;ENSP00000396024:D3375Y;ENSP00000265368:D3368Y;ENSP00000390975:D3375Y;ENSP00000341887:D3407Y	ENSP00000265368:D3368Y	D	-	1	0	SYNE1	152727718	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	4.694000	0.61760	2.466000	0.83321	0.655000	0.94253	GAT		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		35	119	1	0	6.97489e-18	0.004878	1.039e-17	35	119				
SYNE1	23345	broad.mit.edu	37	6	152809592	152809592	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:152809592T>A	ENST00000367255.5	-	12	1587	c.986A>T	c.(985-987)cAa>cTa	p.Q329L	SYNE1_ENST00000367248.3_Missense_Mutation_p.Q319L|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q336L|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q329L|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q329L|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q329L|SYNE1_ENST00000466159.2_Missense_Mutation_p.Q329L|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q329L|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q336L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	329					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.Q329L(2)|p.Q336L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTCTCAAATTGTTCTATCCA	0.299										HNSCC(10;0.0054)																													uc010kiw.2		NA																	3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(985-987)CAA>CTA		spectrin repeat containing, nuclear envelope 1							128.0	128.0	128.0					6																	152809592		2202	4293	6495	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152809592T>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.986A>T	6.37:g.152809592T>A	ENSP00000356224:p.Gln329Leu	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.Q336L|SYNE1_uc003qou.3_Missense_Mutation_p.Q329L|SYNE1_uc010kjb.1_Missense_Mutation_p.Q312L|SYNE1_uc003qpa.1_Missense_Mutation_p.Q329L	p.Q329L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	12	1588	-		Ovarian(120;0.0955)	329			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.986A>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	25.4	4.637804	0.87760	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;D;D	0.91843	0.45;0.45;0.36;0.44;0.62;-2.39;-2.48;-2.53;-2.78;-2.92	5.42	5.42	0.78866	.	0.000000	0.56097	D	0.000031	D	0.95040	0.8394	M	0.76002	2.32	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	D;D;D;D;D	0.87578	0.994;0.959;0.998;0.959;0.982	D	0.95704	0.8752	10	0.72032	D	0.01	.	15.4603	0.75349	0.0:0.0:0.0:1.0	.	312;329;329;329;336	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	L	329;336;329;336;329;329;319;329;329;312	ENSP00000356224:Q329L;ENSP00000396024:Q336L;ENSP00000265368:Q329L;ENSP00000390975:Q336L;ENSP00000341887:Q329L;ENSP00000356222:Q329L;ENSP00000356217:Q319L;ENSP00000414510:Q329L;ENSP00000446021:Q329L;ENSP00000441264:Q312L	ENSP00000265368:Q329L	Q	-	2	0	SYNE1	152851285	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.437000	0.80417	2.057000	0.61298	0.533000	0.62120	CAA		0.299	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		10	61	0	0	0	0.006214	0	10	61				
SCAF8	22828	broad.mit.edu	37	6	155145395	155145395	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:155145395G>T	ENST00000367178.3	+	17	2530	c.1954G>T	c.(1954-1956)Gtt>Ttt	p.V652F	RNU6-824P_ENST00000363724.1_RNA|SCAF8_ENST00000417268.1_Missense_Mutation_p.V652F|SCAF8_ENST00000367186.4_Missense_Mutation_p.V718F	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	652	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.V652F(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CGTGCCTACAGTTAGTTTAGT	0.453																																							uc003qqa.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1954-1956)GTT>TTT		RNA-binding motif protein 16							174.0	171.0	172.0					6																	155145395		2203	4300	6503	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155145395G>T	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.1954G>T	6.37:g.155145395G>T	ENSP00000356146:p.Val652Phe					RBM16_uc011efj.1_Missense_Mutation_p.V718F|RBM16_uc011efk.1_Missense_Mutation_p.V697F|RBM16_uc003qpz.2_Missense_Mutation_p.V652F|RBM16_uc010kji.2_Missense_Mutation_p.V673F	p.V652F	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)	18	2186	+		Ovarian(120;0.196)	652			Pro-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.1954G>T	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913895	0.92178	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.52057	0.7;0.7;0.68	5.41	5.41	0.78517	.	0.000000	0.64402	U	0.000008	T	0.54431	0.1858	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.71674	0.998;0.996;0.998;0.996	D;D;D;D	0.78314	0.991;0.964;0.991;0.964	T	0.51356	-0.8716	10	0.09843	T	0.71	.	17.4463	0.87579	0.0:0.0:1.0:0.0	.	697;718;730;652	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	F	652;652;718	ENSP00000356146:V652F;ENSP00000413098:V652F;ENSP00000356154:V718F	ENSP00000356146:V652F	V	+	1	0	SCAF8	155187087	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	6.739000	0.74827	2.552000	0.86080	0.644000	0.83932	GTT		0.453	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		39	170	1	0	5.48756e-27	0.002852	8.7948e-27	39	170				
ZDHHC14	79683	broad.mit.edu	37	6	157963732	157963732	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:157963732C>T	ENST00000359775.5	+	2	1250	c.361C>T	c.(361-363)Cca>Tca	p.P121S	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.P121S			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	121					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.P121S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGGAGTCCTCCCACGAGCCAC	0.602																																							uc003qqt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(361-363)CCA>TCA		zinc finger, DHHC-type containing 14 isoform 1							30.0	31.0	31.0					6																	157963732		2203	4296	6499	SO:0001583	missense	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:157963732C>T	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.361C>T	6.37:g.157963732C>T	ENSP00000352821:p.Pro121Ser					ZDHHC14_uc003qqs.2_Missense_Mutation_p.P121S|ZDHHC14_uc010kjm.1_Missense_Mutation_p.P16S	p.P121S	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	2	858	+		Breast(66;0.00586)|Ovarian(120;0.123)	121					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	ENST00000359775.5	37	c.361C>T	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919662	0.92249	.	.	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.26223	1.75;1.75	4.89	4.89	0.63831	.	0.061109	0.64402	D	0.000003	T	0.56426	0.1984	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.995	T	0.69705	-0.5073	10	0.87932	D	0	-14.3971	18.4042	0.90528	0.0:1.0:0.0:0.0	.	125;121;121	A4FVA9;Q8IZN3;Q8IZN3-2	.;ZDH14_HUMAN;.	S	121;121;125	ENSP00000352821:P121S;ENSP00000410713:P121S	ENSP00000352821:P121S	P	+	1	0	ZDHHC14	157883720	1.000000	0.71417	0.895000	0.35142	0.947000	0.59692	7.290000	0.78711	2.380000	0.81148	0.655000	0.94253	CCA		0.602	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		7	18	0	0	0	0.004482	0	7	18				
SLC22A2	6582	broad.mit.edu	37	6	160677683	160677683	+	Missense_Mutation	SNP	A	A	G	rs8177509	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:160677683A>G	ENST00000366953.3	-	2	739	c.481T>C	c.(481-483)Ttt>Ctt	p.F161L	SLC22A2_ENST00000366952.1_Missense_Mutation_p.F140L|SLC22A2_ENST00000491092.1_Intron	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	161					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)	p.F161L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	GAGCCAATAAAGAATCCTACA	0.458																																							uc003qtf.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(481-483)TTT>CTT		solute carrier family 22 member 2							127.0	119.0	122.0					6																	160677683		2203	4300	6503	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160677683A>G	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.481T>C	6.37:g.160677683A>G	ENSP00000355920:p.Phe161Leu					SLC22A2_uc003qte.1_Missense_Mutation_p.F161L|SLC22A2_uc003qth.1_Missense_Mutation_p.F161L	p.F161L	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	2	651	-		Breast(66;0.000776)|Ovarian(120;0.0303)	161			Helical; (Potential).		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.481T>C	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	A	2.488	-0.318020	0.05386	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.72615	-0.67;-0.67	5.8	5.8	0.92144	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.122950	0.56097	N	0.000022	T	0.31949	0.0813	N	0.11673	0.155	0.46725	D	0.999176	B;B;B	0.20052	0.041;0.018;0.04	B;B;B	0.25506	0.059;0.06;0.061	T	0.36672	-0.9738	10	0.02654	T	1	.	16.1508	0.81622	1.0:0.0:0.0:0.0	rs8177509;rs45591037;rs8177509	161;161;161	O15244-3;O15244;O15244-2	.;S22A2_HUMAN;.	L	161;140	ENSP00000355920:F161L;ENSP00000355919:F140L	ENSP00000355919:F140L	F	-	1	0	SLC22A2	160597673	1.000000	0.71417	0.993000	0.49108	0.049000	0.14656	4.503000	0.60407	2.207000	0.71202	0.528000	0.53228	TTT		0.458	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		32	93	0	0	0	0.005524	0	32	93				
PLG	5340	broad.mit.edu	37	6	161139844	161139844	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:161139844T>A	ENST00000308192.9	+	9	1133	c.1070T>A	c.(1069-1071)gTa>gAa	p.V357E		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	357					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.V357E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCTCCCCAGTATCCACGGAA	0.517																																							uc003qtm.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1069-1071)GTA>GAA		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						81.0	78.0	79.0					6																	161139844		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161139844T>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1070T>A	6.37:g.161139844T>A	ENSP00000308938:p.Val357Glu						p.V357E	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	9	1133	+			357					Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.1070T>A	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	T	0.267	-0.995324	0.02145	.	.	ENSG00000122194	ENST00000308192	T	0.62639	0.01	5.4	0.829	0.18847	Kringle-like fold (1);	1.990860	0.03539	U	0.223694	T	0.27629	0.0679	L	0.59436	1.845	0.09310	N	1	B	0.06786	0.001	B	0.14578	0.011	T	0.07539	-1.0767	10	0.06099	T	0.92	.	5.3962	0.16271	0.0:0.2772:0.1572:0.5656	.	357	P00747	PLMN_HUMAN	E	357	ENSP00000308938:V357E	ENSP00000308938:V357E	V	+	2	0	PLG	161059834	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.312000	0.08113	-0.057000	0.13199	0.460000	0.39030	GTA		0.517	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		6	69	0	0	0	0.001168	0	6	69				
PLG	5340	broad.mit.edu	37	6	161158002	161158002	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:161158002C>A	ENST00000308192.9	+	14	1828	c.1765C>A	c.(1765-1767)Cca>Aca	p.P589T		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	589	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P589T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGTGGCCCACCCACATTCCTG	0.542																																							uc003qtm.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1765-1767)CCA>ACA		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						74.0	73.0	73.0					6																	161158002		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161158002C>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1765C>A	6.37:g.161158002C>A	ENSP00000308938:p.Pro589Thr						p.P589T	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	14	1828	+			589			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.1765C>A	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	11.03	1.519395	0.27211	.	.	ENSG00000122194	ENST00000308192	D	0.88741	-2.42	4.47	1.67	0.24075	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.393352	0.18228	U	0.147646	D	0.89812	0.6823	L	0.54323	1.7	0.43381	D	0.995488	D	0.89917	1.0	D	0.85130	0.997	D	0.88661	0.3189	10	0.56958	D	0.05	.	13.4071	0.60919	0.0:0.5426:0.4574:0.0	.	589	P00747	PLMN_HUMAN	T	589	ENSP00000308938:P589T	ENSP00000308938:P589T	P	+	1	0	PLG	161077992	0.005000	0.15991	0.752000	0.31206	0.326000	0.28443	0.290000	0.18975	0.033000	0.15463	-0.937000	0.02696	CCA		0.542	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		17	77	1	0	0.00741294	0.007413	0.00776628	17	77				
MLLT4	4301	broad.mit.edu	37	6	168352255	168352255	+	Silent	SNP	G	G	T	rs145659193	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:168352255G>T	ENST00000447894.2	+	29	4200	c.4200G>T	c.(4198-4200)ccG>ccT	p.P1400P	MLLT4_ENST00000400822.3_Silent_p.P1399P|MLLT4_ENST00000344191.4_Silent_p.P1400P|MLLT4_ENST00000392108.3_Silent_p.P1400P|MLLT4_ENST00000366806.2_Silent_p.P1400P|MLLT4_ENST00000392112.1_Silent_p.P1383P|MLLT4_ENST00000351017.4_Silent_p.P1407P			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1400					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.P1400P(1)|p.P1384P(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TAGGGCTGCCGTCTGCGCAGG	0.602			T	MLL	AL																																		uc003qwd.2		NA		Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(4195-4197)CCG>CCT		myeloid/lymphoid or mixed-lineage leukemia							74.0	80.0	78.0					6																	168352255		2203	4300	6503	SO:0001819	synonymous_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352255G>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4200G>T	6.37:g.168352255G>T						MLLT4_uc003qwb.1_Silent_p.P1384P|MLLT4_uc003qwc.1_Silent_p.P1400P|MLLT4_uc003qwg.1_Silent_p.P709P	p.P1399P	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	29	4339	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1400					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37	c.4197G>T																																																																																					0.602	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		36	94	1	0	1.03484e-13	0.005524	1.45309e-13	36	94				
SMOC2	64094	broad.mit.edu	37	6	168910593	168910593	+	Splice_Site	SNP	A	A	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:168910593A>C	ENST00000356284.2	+	2	304		c.e2-1		SMOC2_ENST00000354536.5_Splice_Site	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TTCTCCTTTAAGTTTTTGAGA	0.463																																							uc003qws.1		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e2-2		SPARC related modular calcium binding 2							56.0	62.0	60.0					6																	168910593		2203	4300	6503	SO:0001630	splice_region_variant	64094				signal transduction	basement membrane	calcium ion binding	g.chr6:168910593A>C	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.85-1A>C	6.37:g.168910593A>C						SMOC2_uc003qwr.1_Splice_Site_p.F29_splice	p.F29_splice	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)	2	105	+		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)						B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Splice_Site	SNP	ENST00000356284.2	37	c.85_splice	CCDS55076.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.414168	0.62511	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2044	0.65725	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMOC2	168653442	1.000000	0.71417	0.994000	0.49952	0.685000	0.39939	8.088000	0.89523	1.932000	0.55993	0.363000	0.22086	.		0.463	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1		Intron	8	108	0	0	0	0.006214	0	8	108				
PDCD2	5134	broad.mit.edu	37	6	170889182	170889182	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:170889182C>T	ENST00000541970.1	-	4	748	c.670G>A	c.(670-672)Gag>Aag	p.E224K	PDCD2_ENST00000542896.1_Missense_Mutation_p.E224K|PDCD2_ENST00000392090.2_Missense_Mutation_p.E191K	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	224					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)	p.E224K(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		AGTTCTTCCTCAAGTGCTTCA	0.388																																					Colon(60;1476 1726 39478)	Colon(60;1476 1726 39478)	uc003qxw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(670-672)GAG>AAG		programmed cell death 2 isoform 1							53.0	54.0	53.0					6																	170889182		2203	4300	6503	SO:0001583	missense	5134				apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:170889182C>T	AJ420535	CCDS5316.1, CCDS47521.1, CCDS56460.1, CCDS56461.1, CCDS56462.1, CCDS75557.1	6q27	2008-02-05			ENSG00000071994	ENSG00000071994		"""Zinc fingers, MYND-type"""	8762	protein-coding gene	gene with protein product		600866				7606924	Standard	NM_002598		Approved	ZMYND7, RP8	uc003qxw.3	Q16342	OTTHUMG00000016083	ENST00000541970.1:c.670G>A	6.37:g.170889182C>T	ENSP00000439467:p.Glu224Lys					PDCD2_uc003qxv.2_Missense_Mutation_p.E191K|PDCD2_uc003qxx.1_Missense_Mutation_p.E224K	p.E224K	NM_002598	NP_002589	Q16342	PDCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)	4	749	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	224					E9PCU7|F5GYS7|Q58HM9|Q58HN0|Q9UH12	Missense_Mutation	SNP	ENST00000541970.1	37	c.670G>A	CCDS5316.1	.	.	.	.	.	.	.	.	.	.	.	24.8	4.572914	0.86542	.	.	ENSG00000071994	ENST00000541970;ENST00000392090;ENST00000542896	.	.	.	5.39	5.39	0.77823	Programmed cell death protein 2, C-terminal (1);	0.297275	0.37261	N	0.002163	T	0.69459	0.3113	M	0.72479	2.2	0.80722	D	1	P;P;P	0.49090	0.818;0.919;0.759	B;P;P	0.55749	0.394;0.783;0.521	T	0.68926	-0.5280	8	.	.	.	-5.3754	19.1618	0.93535	0.0:1.0:0.0:0.0	.	224;224;191	F5H4V9;Q16342;Q58HN0	.;PDCD2_HUMAN;.	K	224;191;224	.	.	E	-	1	0	PDCD2	170731107	1.000000	0.71417	0.977000	0.42913	0.957000	0.61999	4.533000	0.60615	2.534000	0.85438	0.557000	0.71058	GAG		0.388	PDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043269.2	NM_002598		5	55	0	0	0	0.000602	0	5	55				
PRKAR1B	5575	broad.mit.edu	37	7	624175	624175	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:624175C>T	ENST00000406797.1	-	8	913	c.739G>A	c.(739-741)Gag>Aag	p.E247K	PRKAR1B_ENST00000360274.4_Missense_Mutation_p.E247K|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.E247K	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	247					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)	p.E247K(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		AGGAACTCCTCGTACATCTTG	0.567																																							uc003siu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(739-741)GAG>AAG		protein kinase, cAMP-dependent, regulatory, type							151.0	108.0	122.0					7																	624175		2202	4295	6497	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:624175C>T	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.739G>A	7.37:g.624175C>T	ENSP00000385749:p.Glu247Lys					PRKAR1B_uc003siv.2_Missense_Mutation_p.E247K|PRKAR1B_uc003siw.1_Missense_Mutation_p.E247K|PRKAR1B_uc003six.1_RNA	p.E247K	NM_002735	NP_002726	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	9	845	-		Ovarian(82;0.0779)	247			cAMP 1.		Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.739G>A	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963462	0.74016	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000340920;ENST00000430040	T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;1.63	4.96	4.96	0.65561	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	U	0.000000	T	0.75620	0.3874	M	0.78801	2.425	0.80722	D	1	B	0.24483	0.104	B	0.12837	0.008	T	0.76124	-0.3074	10	0.66056	D	0.02	-5.8001	17.0165	0.86421	0.0:1.0:0.0:0.0	.	247	P31321	KAP1_HUMAN	K	247;247;247;247;247;12;247	ENSP00000440449:E247K;ENSP00000444487:E247K;ENSP00000385749:E247K;ENSP00000385349:E247K;ENSP00000353415:E247K;ENSP00000402648:E247K	ENSP00000340984:E12K	E	-	1	0	PRKAR1B	590701	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	4.690000	0.61731	2.296000	0.77279	0.638000	0.83543	GAG		0.567	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			9	46	0	0	0	0.000978	0	9	46				
LFNG	3955	broad.mit.edu	37	7	2559920	2559920	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:2559920A>G	ENST00000222725.5	+	1	445	c.425A>G	c.(424-426)aAg>aGg	p.K142R	LFNG_ENST00000359574.3_Missense_Mutation_p.K142R|LFNG_ENST00000402045.1_Intron|LFNG_ENST00000338732.3_Intron|LFNG_ENST00000402506.1_Intron	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	142					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)	p.K142R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		TCGCGCCACAAGGAGATGGTG	0.687																																							uc003smf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(424-426)AAG>AGG		lunatic fringe isoform a							16.0	20.0	19.0					7																	2559920		2012	4121	6133	SO:0001583	missense	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2559920A>G	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.425A>G	7.37:g.2559920A>G	ENSP00000222725:p.Lys142Arg					LFNG_uc003smg.2_Missense_Mutation_p.K142R	p.K142R	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	1	442	+		Ovarian(82;0.0112)	142			Lumenal (Potential).		B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	ENST00000222725.5	37	c.425A>G	CCDS34587.1	.	.	.	.	.	.	.	.	.	.	a	5.026	0.190535	0.09547	.	.	ENSG00000106003	ENST00000222725;ENST00000359574	T;T	0.63580	-0.05;-0.05	4.34	1.94	0.25998	.	0.621026	0.16331	N	0.219124	T	0.41488	0.1161	N	0.16567	0.415	0.80722	D	1	B;B	0.13145	0.007;0.002	B;B	0.24006	0.009;0.05	T	0.07597	-1.0764	10	0.18710	T	0.47	-16.2925	7.7331	0.28797	0.8181:0.0:0.1819:0.0	.	142;142	Q8NES3-3;Q8NES3	.;LFNG_HUMAN	R	142	ENSP00000222725:K142R;ENSP00000352579:K142R	ENSP00000222725:K142R	K	+	2	0	LFNG	2526446	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.197000	0.42696	0.112000	0.17975	0.454000	0.30748	AAG		0.687	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		5	64	0	0	0	0.00308	0	5	64				
RADIL	55698	broad.mit.edu	37	7	4917651	4917651	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:4917651G>A	ENST00000399583.3	-	2	307	c.120C>T	c.(118-120)gaC>gaT	p.D40D	RADIL_ENST00000536091.1_Silent_p.D40D	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	40					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.D40D(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGAAGGTGGAGTCCAGGTCCC	0.632																																							uc003snj.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(118-120)GAC>GAT		Rap GTPase interactor							21.0	25.0	24.0					7																	4917651		2041	4193	6234	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917651G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.120C>T	7.37:g.4917651G>A						RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA	p.D40D	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	293	-		Ovarian(82;0.0175)	40					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.120C>T	CCDS43544.1																																																																																				0.632	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		9	30	0	0	0	0.008291	0	9	30				
COL28A1	340267	broad.mit.edu	37	7	7420475	7420475	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:7420475C>A	ENST00000399429.3	-	29	2364	c.2224G>T	c.(2224-2226)Ggc>Tgc	p.G742C		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	742	Collagen-like 6.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G742C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCCACATCGCCCCGTTCTCCG	0.398																																							uc003src.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(2224-2226)GGC>TGC		collagen, type XXVIII precursor							194.0	190.0	191.0					7																	7420475		1852	4091	5943	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7420475C>A	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2224G>T	7.37:g.7420475C>A	ENSP00000382356:p.Gly742Cys					COL28A1_uc011jxe.1_Missense_Mutation_p.G425C	p.G742C	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	29	2341	-		Ovarian(82;0.0789)	742			Collagen-like 6.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.2224G>T	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186660	0.38609	.	.	ENSG00000215018	ENST00000399429	D	0.99637	-6.29	4.78	4.78	0.61160	.	0.167866	0.37809	U	0.001939	D	0.99771	0.9906	H	0.98256	4.185	0.58432	D	0.999995	D	0.65815	0.995	D	0.72338	0.977	D	0.97048	0.9762	10	0.87932	D	0	-5.4488	13.7432	0.62860	0.0:0.9234:0.0:0.0766	.	742	Q2UY09	COSA1_HUMAN	C	742	ENSP00000382356:G742C	ENSP00000382356:G742C	G	-	1	0	COL28A1	7387000	0.998000	0.40836	0.092000	0.20876	0.006000	0.05464	4.270000	0.58896	2.655000	0.90218	0.650000	0.86243	GGC		0.398	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		37	263	1	0	4.14481e-20	0.00623	6.29613e-20	37	263				
ABCB5	340273	broad.mit.edu	37	7	20666195	20666195	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:20666195G>T	ENST00000404938.2	+	3	721	c.69G>T	c.(67-69)caG>caT	p.Q23H		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	23					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.Q23H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGAAGAACAGCCAAAACTGA	0.333																																							uc010kuh.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(67-69)CAG>CAT		ATP-binding cassette, sub-family B, member 5							77.0	67.0	70.0					7																	20666195		1568	3581	5149	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20666195G>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.69G>T	7.37:g.20666195G>T	ENSP00000384881:p.Gln23His						p.Q23H	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN			3	306	+			Error:Variant_position_missing_in_Q2M3G0_after_alignment					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.69G>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275962	0.23307	.	.	ENSG00000004846	ENST00000404938	D	0.86497	-2.13	4.33	-4.16	0.03869	.	.	.	.	.	T	0.62624	0.2443	N	0.08118	0	0.36912	D	0.890944	B	0.33266	0.404	B	0.17433	0.018	T	0.48636	-0.9018	9	0.56958	D	0.05	.	0.5606	0.00678	0.3909:0.131:0.2128:0.2653	.	23	A7BKA4	.	H	23	ENSP00000384881:Q23H	ENSP00000384881:Q23H	Q	+	3	2	ABCB5	20632720	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-1.241000	0.02911	-0.948000	0.03668	0.650000	0.86243	CAG		0.333	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		7	21	1	0	0.00198382	0.001984	0.00210086	7	21				
DNAH11	8701	broad.mit.edu	37	7	21750234	21750234	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:21750234G>A	ENST00000409508.3	+	41	6778	c.6747G>A	c.(6745-6747)aaG>aaA	p.K2249K	DNAH11_ENST00000328843.6_Silent_p.K2256K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2256	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K2256K(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAAATCTTAAGCATGATGGAC	0.353									Kartagener syndrome																														uc003svc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(6766-6768)AAG>AAA		dynein, axonemal, heavy chain 11							102.0	102.0	102.0					7																	21750234		2039	4233	6272	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21750234G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6747G>A	7.37:g.21750234G>A							p.K2256K	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			42	6799	+			2256			AAA 2 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.6768G>A																																																																																					0.353	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		6	42	0	0	0	0.001984	0	6	42				
IGF2BP3	10643	broad.mit.edu	37	7	23390963	23390963	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:23390963C>A	ENST00000258729.3	-	6	1000	c.644G>T	c.(643-645)gGt>gTt	p.G215V	IGF2BP3_ENST00000491719.1_5'Flank	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	215	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)	p.G215V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						AATGGTGGCACCTTCTTTTCC	0.498																																							uc003swg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(643-645)GGT>GTT		insulin-like growth factor 2 mRNA binding							126.0	112.0	116.0					7																	23390963		2203	4300	6503	SO:0001583	missense	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23390963C>A	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.644G>T	7.37:g.23390963C>A	ENSP00000258729:p.Gly215Val						p.G215V	NM_006547	NP_006538	O00425	IF2B3_HUMAN			6	910	-			215			KH 1.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	ENST00000258729.3	37	c.644G>T	CCDS5382.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456453	0.84317	.	.	ENSG00000136231	ENST00000258729	D	0.84873	-1.91	5.89	5.89	0.94794	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.046353	0.85682	D	0.000000	D	0.95890	0.8662	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96872	0.9640	10	0.87932	D	0	-15.9127	20.2566	0.98424	0.0:1.0:0.0:0.0	.	215	O00425	IF2B3_HUMAN	V	215	ENSP00000258729:G215V	ENSP00000258729:G215V	G	-	2	0	IGF2BP3	23357488	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	7.770000	0.85390	2.793000	0.96121	0.561000	0.74099	GGT		0.498	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		46	120	1	0	1.56793e-16	0.00361	2.30038e-16	46	120				
STK31	56164	broad.mit.edu	37	7	23775440	23775440	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:23775440A>G	ENST00000355870.3	+	7	886	c.767A>G	c.(766-768)aAg>aGg	p.K256R	STK31_ENST00000433467.2_Missense_Mutation_p.K256R|STK31_ENST00000428484.1_Missense_Mutation_p.K233R|STK31_ENST00000354639.3_Missense_Mutation_p.K233R|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	256						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.K256R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCAGGCCCAAGGGGCACTTA	0.403																																							uc003sws.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(766-768)AAG>AGG		serine/threonine kinase 31 isoform a							71.0	74.0	73.0					7																	23775440		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23775440A>G	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.767A>G	7.37:g.23775440A>G	ENSP00000348132:p.Lys256Arg					STK31_uc003swt.3_Missense_Mutation_p.K233R|STK31_uc011jze.1_Missense_Mutation_p.K256R|STK31_uc010kuq.2_Missense_Mutation_p.K233R	p.K256R	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			7	834	+			256					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.767A>G	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	a	10.05	1.243367	0.22796	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.16	5.16	0.70880	.	0.357145	0.28927	N	0.013687	T	0.20700	0.0498	L	0.50333	1.59	0.37306	D	0.908904	P;P	0.42409	0.779;0.779	B;B	0.37480	0.251;0.251	T	0.12319	-1.0552	10	0.37606	T	0.19	-12.2339	14.2605	0.66083	1.0:0.0:0.0:0.0	.	256;256	B4DZ06;Q9BXU1	.;STK31_HUMAN	R	256;256;233;233	ENSP00000348132:K256R;ENSP00000411852:K256R;ENSP00000346660:K233R;ENSP00000406146:K233R	ENSP00000346660:K233R	K	+	2	0	STK31	23741965	1.000000	0.71417	0.449000	0.26957	0.031000	0.12232	4.385000	0.59613	2.067000	0.61834	0.383000	0.25322	AAG		0.403	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		16	181	0	0	0	0.00499	0	16	181				
TAX1BP1	8887	broad.mit.edu	37	7	27827131	27827131	+	Missense_Mutation	SNP	C	C	G	rs550822476		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:27827131C>G	ENST00000396319.2	+	8	1035	c.947C>G	c.(946-948)aCt>aGt	p.T316S	TAX1BP1_ENST00000265393.6_Missense_Mutation_p.T316S|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.T159S|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.T316S|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.T316S	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	316					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)	p.T316S(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AGCGTGATTACTCATTTCAAA	0.353													C|||	1	0.000199681	0.0	0.0	5008	,	,		17171	0.001		0.0	False		,,,				2504	0.0						uc003szl.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(946-948)ACT>AGT		Tax1 (human T-cell leukemia virus type I)							76.0	81.0	79.0					7																	27827131		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27827131C>G	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.947C>G	7.37:g.27827131C>G	ENSP00000379612:p.Thr316Ser					TAX1BP1_uc011jzo.1_Missense_Mutation_p.T316S|TAX1BP1_uc003szk.2_Missense_Mutation_p.T316S|TAX1BP1_uc011jzp.1_Missense_Mutation_p.T159S	p.T316S	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		8	1105	+			316			Potential.		B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.947C>G	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057296	0.36277	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	T;T;T;T;T	0.28069	3.02;3.02;3.02;1.63;3.01	5.98	4.2	0.49525	.	0.403282	0.21153	N	0.079282	T	0.11793	0.0287	N	0.01705	-0.755	0.26068	N	0.981263	B;B;B	0.10296	0.003;0.001;0.0	B;B;B	0.10450	0.005;0.004;0.002	T	0.23583	-1.0184	10	0.10377	T	0.69	-0.4937	12.5925	0.56451	0.0:0.867:0.0:0.133	.	159;316;316	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	S	316;316;316;159;316	ENSP00000444811:T316S;ENSP00000265393:T316S;ENSP00000386515:T316S;ENSP00000391907:T159S;ENSP00000379612:T316S	ENSP00000265393:T316S	T	+	2	0	TAX1BP1	27793656	0.252000	0.23972	0.996000	0.52242	0.960000	0.62799	2.642000	0.46596	0.876000	0.35872	-0.145000	0.13849	ACT		0.353	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		8	150	0	0	0	0.004482	0	8	150				
NEUROD6	63974	broad.mit.edu	37	7	31378156	31378156	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:31378156A>C	ENST00000297142.3	-	2	1049	c.727T>G	c.(727-729)Ttc>Gtc	p.F243V		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	243					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.F243V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CTTTCATAGAAGGATTCATAC	0.478																																							uc003tch.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(727-729)TTC>GTC		neurogenic differentiation 6							80.0	76.0	77.0					7																	31378156		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378156A>C	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.727T>G	7.37:g.31378156A>C	ENSP00000297142:p.Phe243Val						p.F243V	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	1080	-			243					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.727T>G	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.120891	0.56613	.	.	ENSG00000164600	ENST00000297142	T	0.63580	-0.05	5.32	5.32	0.75619	Neurogenic differentiation factor, domain of unknown function (1);	0.049797	0.85682	D	0.000000	T	0.56702	0.2003	L	0.43152	1.355	0.58432	D	0.999999	P	0.43826	0.818	B	0.41374	0.355	T	0.58451	-0.7634	10	0.39692	T	0.17	-11.3132	15.2875	0.73838	1.0:0.0:0.0:0.0	.	243	Q96NK8	NDF6_HUMAN	V	243	ENSP00000297142:F243V	ENSP00000297142:F243V	F	-	1	0	NEUROD6	31344681	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.904000	0.92590	2.008000	0.58898	0.528000	0.53228	TTC		0.478	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		13	203	0	0	0	0.001855	0	13	203				
PDE1C	5137	broad.mit.edu	37	7	31867988	31867988	+	Splice_Site	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:31867988C>G	ENST00000396191.1	-	12	1659		c.e12-1		PDE1C_ENST00000321453.7_Splice_Site|PDE1C_ENST00000396182.2_Splice_Site|PDE1C_ENST00000396184.3_Splice_Site|PDE1C_ENST00000396193.1_Splice_Site	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa						activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.?(3)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CTCTGTCACCCTGGAAAAATA	0.478																																							uc003tcm.1		NA																	3	Unknown(3)		lung(3)	skin(3)|central_nervous_system(1)	4						c.e12-1		phosphodiesterase 1C							58.0	54.0	56.0					7																	31867988		2203	4300	6503	SO:0001630	splice_region_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31867988C>G	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1204-1G>C	7.37:g.31867988C>G						PDE1C_uc003tcn.1_Splice_Site_p.G402_splice|PDE1C_uc003tco.1_Splice_Site_p.G462_splice|PDE1C_uc003tcr.2_Splice_Site_p.G402_splice|PDE1C_uc003tcs.2_Splice_Site_p.G402_splice	p.G402_splice	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		12	1673	-								B3KPC6|E9PE92|Q14124|Q8NB10	Splice_Site	SNP	ENST00000396191.1	37	c.1204_splice	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475687	0.84640	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0204	0.92912	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE1C	31834513	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.725000	0.84808	2.679000	0.91253	0.655000	0.94253	.		0.478	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		Intron	8	68	0	0	0	0.004482	0	8	68				
BBS9	27241	broad.mit.edu	37	7	33384214	33384214	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:33384214G>A	ENST00000242067.6	+	12	1818	c.1297G>A	c.(1297-1299)Gga>Aga	p.G433R	BBS9_ENST00000354265.4_Missense_Mutation_p.G433R|BBS9_ENST00000396127.2_Missense_Mutation_p.G433R|BBS9_ENST00000355070.2_Missense_Mutation_p.G433R|BBS9_ENST00000350941.3_Missense_Mutation_p.G433R	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	433					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.G433R(2)|p.G433*(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGTTGAGGTGGGAACTGACCT	0.398									Bardet-Biedl syndrome																														uc003tdn.1		NA																	4	Substitution - Missense(2)|Substitution - Nonsense(2)		lung(4)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1297-1299)GGA>AGA		parathyroid hormone-responsive B1 isoform 2							311.0	270.0	284.0					7																	33384214		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33384214G>A		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1297G>A	7.37:g.33384214G>A	ENSP00000242067:p.Gly433Arg					BBS9_uc003tdo.1_Missense_Mutation_p.G433R|BBS9_uc003tdp.1_Missense_Mutation_p.G433R|BBS9_uc003tdq.1_Missense_Mutation_p.G433R|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_5'UTR|BBS9_uc011kao.1_Missense_Mutation_p.G311R	p.G433R	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		12	1810	+			433					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.1297G>A	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275376	0.40194	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000537775	T;T;T;T;T	0.58358	0.34;0.39;0.44;0.34;0.4	5.8	5.8	0.92144	.	0.183122	0.46145	D	0.000310	T	0.54565	0.1866	M	0.62723	1.935	0.80722	D	1	B;B;B;B	0.32693	0.38;0.38;0.38;0.38	B;B;B;B	0.41374	0.23;0.355;0.23;0.283	T	0.50197	-0.8856	10	0.27082	T	0.32	-22.8432	11.4089	0.49915	0.1137:0.0:0.8863:0.0	.	433;433;433;433	Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;PTHB1_HUMAN	R	433;433;433;433;433;433;433;311	ENSP00000242067:G433R;ENSP00000313122:G433R;ENSP00000379433:G433R;ENSP00000347182:G433R;ENSP00000346214:G433R	ENSP00000242067:G433R	G	+	1	0	BBS9	33350739	1.000000	0.71417	0.902000	0.35471	0.341000	0.28922	3.469000	0.53093	2.741000	0.93983	0.650000	0.86243	GGA		0.398	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			70	214	0	0	0	0.00361	0	70	214				
BBS9	27241	broad.mit.edu	37	7	33545228	33545228	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:33545228C>T	ENST00000242067.6	+	20	2790	c.2269C>T	c.(2269-2271)Ctg>Ttg	p.L757L	BBS9_ENST00000354265.4_Silent_p.L722L|BBS9_ENST00000396127.2_Silent_p.L722L|BBS9_ENST00000355070.2_Silent_p.L752L|BBS9_ENST00000350941.3_Silent_p.L717L	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	757	Interaction with LZTL1.				cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.L757L(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGCGGCATTTCTGCCGCTACA	0.488									Bardet-Biedl syndrome																														uc003tdn.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(2269-2271)CTG>TTG		parathyroid hormone-responsive B1 isoform 2							61.0	57.0	59.0					7																	33545228		2203	4300	6503	SO:0001819	synonymous_variant	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33545228C>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2269C>T	7.37:g.33545228C>T						BBS9_uc003tdo.1_Silent_p.L722L|BBS9_uc003tdp.1_Silent_p.L752L|BBS9_uc003tdq.1_Silent_p.L717L|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Silent_p.L281L|BBS9_uc003tds.1_Silent_p.L180L|BBS9_uc003tdt.2_RNA	p.L757L	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		20	2782	+			757					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Silent	SNP	ENST00000242067.6	37	c.2269C>T	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	C	8.215	0.801289	0.16397	.	.	ENSG00000122507	ENST00000434373	.	.	.	5.61	4.63	0.57726	.	.	.	.	.	T	0.48696	0.1514	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47497	-0.9113	4	.	.	.	-8.5853	4.1194	0.10098	0.0:0.7062:0.0:0.2938	.	.	.	.	F	323	.	.	S	+	2	0	BBS9	33511753	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.697000	0.47060	2.656000	0.90262	0.561000	0.74099	TCT		0.488	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			8	99	0	0	0	0.00308	0	8	99				
NPSR1	387129	broad.mit.edu	37	7	34867094	34867094	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:34867094A>G	ENST00000360581.1	+	5	688	c.560A>G	c.(559-561)aAg>aGg	p.K187R	NPSR1_ENST00000359791.1_Missense_Mutation_p.K187R|NPSR1_ENST00000531252.1_Missense_Mutation_p.K176R|NPSR1_ENST00000381539.3_Missense_Mutation_p.K187R|NPSR1_ENST00000381542.1_Missense_Mutation_p.K121R	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	187						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)	p.K187R(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ATATTTGGGAAGAGGACACTG	0.537																																							uc003teg.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|pancreas(1)	4						c.(559-561)AAG>AGG		G protein-coupled receptor for asthma	Halothane(DB01159)						141.0	121.0	128.0					7																	34867094		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34867094A>G	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.560A>G	7.37:g.34867094A>G	ENSP00000353788:p.Lys187Arg					AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.K187R|NPSR1_uc010kwt.1_Missense_Mutation_p.K34R|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.K121R|NPSR1_uc003tei.1_Missense_Mutation_p.K187R|NPSR1_uc010kww.1_Missense_Mutation_p.K176R|NPSR1_uc011kar.1_Missense_Mutation_p.K121R|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron	p.K187R	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN			5	688	+			187			Extracellular (Potential).		A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.560A>G	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720346	0.48728	.	.	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539;ENST00000334481	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.45276	0.1334	L	0.40543	1.245	0.44937	D	0.997953	D;D;D;P;D;P	0.63046	0.992;0.96;0.988;0.876;0.96;0.899	P;P;P;P;P;P	0.62491	0.903;0.755;0.794;0.79;0.737;0.867	T	0.21690	-1.0238	10	0.12766	T	0.61	-19.2802	14.6901	0.69080	1.0:0.0:0.0:0.0	.	121;176;121;187;187;187	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	R	187;121;187;176;187;50	ENSP00000353788:K187R;ENSP00000370953:K121R;ENSP00000352839:K187R;ENSP00000433258:K176R;ENSP00000370950:K187R	ENSP00000334093:K50R	K	+	2	0	NPSR1	34833619	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.667000	0.61561	2.065000	0.61736	0.533000	0.62120	AAG		0.537	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		10	169	0	0	0	0.008291	0	10	169				
AOAH	313	broad.mit.edu	37	7	36571916	36571916	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:36571916C>G	ENST00000258749.5	-	17	1740	c.1341G>C	c.(1339-1341)ttG>ttC	p.L447F	AOAH_ENST00000538464.1_Missense_Mutation_p.L169F|AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000431169.1_Missense_Mutation_p.L447F|AOAH_ENST00000535891.1_Missense_Mutation_p.L415F	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	447					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.L447F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GGAAGGAGTACAACTGCGCAT	0.507																																							uc003tfh.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1339-1341)TTG>TTC		acyloxyacyl hydrolase precursor							152.0	140.0	144.0					7																	36571916		2203	4300	6503	SO:0001583	missense	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36571916C>G	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1341G>C	7.37:g.36571916C>G	ENSP00000258749:p.Leu447Phe					AOAH_uc010kxf.2_Missense_Mutation_p.L447F|AOAH_uc011kba.1_Missense_Mutation_p.L415F	p.L447F	NM_001637	NP_001628	P28039	AOAH_HUMAN			17	1742	-			447					A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	c.1341G>C	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	C	6.579	0.475250	0.12521	.	.	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.75	-0.872	0.10638	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);	0.313500	0.25076	N	0.033339	T	0.06554	0.0168	.	.	.	0.26284	N	0.978235	B;B;B	0.15930	0.002;0.015;0.004	B;B;B	0.21360	0.011;0.034;0.011	T	0.40175	-0.9577	9	0.09843	T	0.71	.	5.8654	0.18773	0.1105:0.579:0.1905:0.12	.	415;447;447	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	F	169;415;447;447;447	ENSP00000439283:L169F;ENSP00000441101:L415F;ENSP00000258749:L447F;ENSP00000405683:L447F	ENSP00000258749:L447F	L	-	3	2	AOAH	36538441	0.528000	0.26314	0.765000	0.31456	0.707000	0.40811	-0.175000	0.09825	0.113000	0.18004	0.655000	0.94253	TTG		0.507	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		33	208	0	0	0	0.005524	0	33	208				
INHBA	3624	broad.mit.edu	37	7	41739824	41739824	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:41739824G>T	ENST00000242208.4	-	2	395	c.149C>A	c.(148-150)tCt>tAt	p.S50Y	INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.S50Y	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	50					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.S50Y(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTCTGGCTGAGAGTTGGGTAC	0.612										TSP Lung(11;0.080)																													uc003thq.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(1)	6						c.(148-150)TCT>TAT		inhibin beta A precursor							186.0	201.0	196.0					7																	41739824		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739824G>T		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.149C>A	7.37:g.41739824G>T	ENSP00000242208:p.Ser50Tyr	TSP Lung(11;0.080)				LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Missense_Mutation_p.S50Y|LOC285954_uc003ths.2_Intron	p.S50Y	NM_002192	NP_002183	P08476	INHBA_HUMAN			1	384	-			50					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.149C>A	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637213	0.67130	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.66638	-0.22;-0.22	5.49	5.49	0.81192	Transforming growth factor-beta, N-terminal (1);	0.748591	0.12890	N	0.430655	T	0.73140	0.3549	L	0.44542	1.39	0.50813	D	0.999899	B	0.30793	0.295	P	0.44518	0.452	T	0.70901	-0.4746	10	0.66056	D	0.02	-1.1473	19.3797	0.94527	0.0:0.0:1.0:0.0	.	50	P08476	INHBA_HUMAN	Y	50	ENSP00000242208:S50Y;ENSP00000397197:S50Y	ENSP00000242208:S50Y	S	-	2	0	INHBA	41706349	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	5.483000	0.66838	2.576000	0.86940	0.655000	0.94253	TCT		0.612	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			62	798	1	0	7.91745e-34	0.00361	1.30784e-33	62	798				
URGCP	55665	broad.mit.edu	37	7	43916853	43916853	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:43916853C>G	ENST00000453200.1	-	6	2702	c.2209G>C	c.(2209-2211)Gag>Cag	p.E737Q	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Missense_Mutation_p.E694Q|URGCP_ENST00000447717.3_Missense_Mutation_p.E694Q|URGCP_ENST00000336086.6_Missense_Mutation_p.E694Q|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.E694Q|URGCP_ENST00000402306.3_Missense_Mutation_p.E728Q			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	737	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.E694Q(1)|p.E737Q(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGAAGCCCTCAGCCACTGTG	0.602																																							uc003tiw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(2209-2211)GAG>CAG		up-regulated gene 4 isoform 3							41.0	43.0	42.0					7																	43916853		2070	4222	6292	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43916853C>G		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2209G>C	7.37:g.43916853C>G	ENSP00000396918:p.Glu737Gln					URGCP_uc003tiu.2_Missense_Mutation_p.E694Q|URGCP_uc003tiv.2_Missense_Mutation_p.E662Q|URGCP_uc003tix.2_Missense_Mutation_p.E728Q|URGCP_uc003tiy.2_Missense_Mutation_p.E694Q|URGCP_uc003tiz.2_Missense_Mutation_p.E694Q|URGCP_uc011kbj.1_Missense_Mutation_p.E694Q	p.E737Q	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	2266	-			737					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.2209G>C	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235723	0.79800	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.51	5.51	0.81932	.	0.189184	0.48286	D	0.000193	T	0.80597	0.4653	M	0.82517	2.595	0.49051	D	0.99974	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.975	T	0.82971	-0.0192	10	0.66056	D	0.02	-43.0872	16.8764	0.86053	0.0:1.0:0.0:0.0	.	728;737	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	Q	694;694;728;694;737;694	ENSP00000223341:E694Q;ENSP00000336872:E694Q;ENSP00000384955:E728Q;ENSP00000392136:E694Q;ENSP00000396918:E737Q;ENSP00000402803:E694Q	ENSP00000223341:E694Q	E	-	1	0	URGCP	43883378	0.978000	0.34361	0.977000	0.42913	0.980000	0.70556	2.567000	0.45956	2.586000	0.87340	0.591000	0.81541	GAG		0.602	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		5	129	0	0	0	0.00308	0	5	129				
NPC1L1	29881	broad.mit.edu	37	7	44579392	44579392	+	Missense_Mutation	SNP	A	A	G	rs372834218		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:44579392A>G	ENST00000289547.4	-	2	659	c.604T>C	c.(604-606)Tgg>Cgg	p.W202R	NPC1L1_ENST00000546276.1_Missense_Mutation_p.W202R|NPC1L1_ENST00000423141.1_Missense_Mutation_p.W202R|NPC1L1_ENST00000381160.3_Missense_Mutation_p.W202R	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	202					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.W202R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AAGTTGAGCCAGCGCTGGGCA	0.637																																							uc003tlb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(604-606)TGG>CGG		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						88.0	75.0	79.0					7																	44579392		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579392A>G		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.604T>C	7.37:g.44579392A>G	ENSP00000289547:p.Trp202Arg					NPC1L1_uc003tlc.2_Missense_Mutation_p.W202R|NPC1L1_uc011kbw.1_Missense_Mutation_p.W202R|NPC1L1_uc003tld.2_Missense_Mutation_p.W202R	p.W202R	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			2	660	-			202			Extracellular (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.604T>C	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	a	19.95	3.920857	0.73213	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.95796	0.8632	M	0.89785	3.06	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96420	0.9311	10	0.87932	D	0	-17.822	12.7073	0.57067	1.0:0.0:0.0:0.0	.	202;202;202;202	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	R	202	ENSP00000289547:W202R;ENSP00000370552:W202R;ENSP00000438033:W202R;ENSP00000404670:W202R	ENSP00000289547:W202R	W	-	1	0	NPC1L1	44545917	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.524000	0.90579	1.899000	0.54978	0.374000	0.22700	TGG		0.637	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		13	199	0	0	0	0.003163	0	13	199				
PKD1L1	168507	broad.mit.edu	37	7	47867068	47867068	+	Splice_Site	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:47867068T>A	ENST00000289672.2	-	45	6786		c.e45-2			NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1						detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.?(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGCCAAGACCTGTCAGGGACA	0.622																																							uc003tny.1		NA																	1	Unknown(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.e45-1		polycystin-1L1							37.0	34.0	35.0					7																	47867068		2203	4300	6503	SO:0001630	splice_region_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47867068T>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6736-2A>T	7.37:g.47867068T>A						C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Splice_Site	p.V2246_splice	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			45	6736	-								Q6UWK1	Splice_Site	SNP	ENST00000289672.2	37	c.6736_splice	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.846090	0.51164	.	.	ENSG00000158683	ENST00000289672	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6009	0.51001	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PKD1L1	47833593	1.000000	0.71417	0.944000	0.38274	0.713000	0.41058	3.197000	0.51028	2.006000	0.58801	0.533000	0.62120	.		0.622	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	Intron	7	35	0	0	0	0.004482	0	7	35				
ABCA13	154664	broad.mit.edu	37	7	48563921	48563921	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:48563921A>C	ENST00000435803.1	+	54	14153	c.14129A>C	c.(14128-14130)gAa>gCa	p.E4710A	ABCA13_ENST00000544596.1_Missense_Mutation_p.E440A	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4710					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E4655A(1)|p.E4710A(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGAGTGTTTGAAGGAAGGACC	0.388																																							uc003toq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(14128-14130)GAA>GCA		ATP binding cassette, sub-family A (ABC1),							119.0	118.0	118.0					7																	48563921		1863	4093	5956	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48563921A>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14129A>C	7.37:g.48563921A>C	ENSP00000411096:p.Glu4710Ala					ABCA13_uc010kys.1_Missense_Mutation_p.E1785A|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.E440A	p.E4710A	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			54	14154	+			4710					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.14129A>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	10.58	1.390159	0.25118	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.88046	-2.07;-2.33;-2.29	5.43	1.57	0.23409	.	0.600804	0.15044	N	0.283679	T	0.69061	0.3069	N	0.10972	0.075	0.22050	N	0.999392	B;B;B	0.26081	0.016;0.141;0.068	B;B;B	0.21360	0.026;0.034;0.022	T	0.56171	-0.8023	10	0.27082	T	0.32	.	4.162	0.10289	0.4434:0.4179:0.1388:0.0	.	440;2412;4710	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	A	4710;483;440	ENSP00000411096:E4710A;ENSP00000391042:E483A;ENSP00000442634:E440A	ENSP00000391042:E483A	E	+	2	0	ABCA13	48534467	1.000000	0.71417	0.987000	0.45799	0.685000	0.39939	1.662000	0.37418	0.952000	0.37798	0.533000	0.62120	GAA		0.388	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		3	34	0	0	0	0.004672	0	3	34				
ZNF679	168417	broad.mit.edu	37	7	63720657	63720657	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:63720657T>A	ENST00000421025.1	+	3	367	c.98T>A	c.(97-99)cTg>cAg	p.L33Q	ZNF679_ENST00000255746.4_Missense_Mutation_p.L33Q	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	33	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.L33Q(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGGCAATGCCTGGATCACGCT	0.393																																							uc003tsx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(97-99)CTG>CAG		zinc finger protein 679							59.0	52.0	54.0					7																	63720657		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63720657T>A	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.98T>A	7.37:g.63720657T>A	ENSP00000416809:p.Leu33Gln						p.L33Q	NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN			3	367	+			33			KRAB.			Missense_Mutation	SNP	ENST00000421025.1	37	c.98T>A	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	t	12.43	1.935084	0.34189	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.19250	2.16;2.16	0.185	0.185	0.15096	Krueppel-associated box (4);	.	.	.	.	T	0.56514	0.1990	H	0.98559	4.265	0.25087	N	0.990887	D	0.89917	1.0	D	0.91635	0.999	T	0.43147	-0.9409	9	0.87932	D	0	.	4.8068	0.13325	0.0:3.0E-4:0.0:0.9997	.	33	Q8IYX0	ZN679_HUMAN	Q	33	ENSP00000416809:L33Q;ENSP00000255746:L33Q	ENSP00000255746:L33Q	L	+	2	0	ZNF679	63358092	0.970000	0.33590	0.050000	0.19076	0.050000	0.14768	2.811000	0.47986	0.251000	0.21505	0.248000	0.18094	CTG		0.393	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		6	139	0	0	0	0.00308	0	6	139				
ZNF679	168417	broad.mit.edu	37	7	63720698	63720698	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:63720698G>C	ENST00000421025.1	+	3	408	c.139G>C	c.(139-141)Gag>Cag	p.E47Q	ZNF679_ENST00000255746.4_Missense_Mutation_p.E47Q	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	47	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.E47Q(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGTGATGTTAGAGAACTACAG	0.378																																							uc003tsx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(139-141)GAG>CAG		zinc finger protein 679							47.0	42.0	44.0					7																	63720698		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63720698G>C	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.139G>C	7.37:g.63720698G>C	ENSP00000416809:p.Glu47Gln						p.E47Q	NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN			3	408	+			47			KRAB.			Missense_Mutation	SNP	ENST00000421025.1	37	c.139G>C	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	g	12.83	2.055138	0.36277	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.04317	3.65;3.65	0.195	0.195	0.15151	Krueppel-associated box (4);	.	.	.	.	T	0.27765	0.0683	H	0.96889	3.9	0.22354	N	0.999171	D	0.76494	0.999	D	0.83275	0.996	T	0.03863	-1.0997	9	0.72032	D	0.01	.	6.2336	0.20750	3.0E-4:0.0:0.9997:0.0	.	47	Q8IYX0	ZN679_HUMAN	Q	47	ENSP00000416809:E47Q;ENSP00000255746:E47Q	ENSP00000255746:E47Q	E	+	1	0	ZNF679	63358133	0.916000	0.31088	0.362000	0.25862	0.361000	0.29550	0.853000	0.27777	0.300000	0.22699	0.306000	0.20318	GAG		0.378	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		11	162	0	0	0	0.001855	0	11	162				
ZNF138	7697	broad.mit.edu	37	7	64313133	64313133	+	IGR	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:64313133G>T								ZNF138 (19079 upstream) : ZNF273 (29737 downstream)																							TGTCCCCAGGGGTTTTGTCAA	0.488																																							uc003ttj.1		NA																	0					0						c.(493-495)CCC>CAC		SubName: Full=Selenophosphate synthetase 1; SubName: Full=Selenophosphate synthetase 1, isoform CRA_a;																																				SO:0001628	intergenic_variant	168474							g.chr7:64313133G>T																													7.37:g.64313133G>T							p.P165H	NR_002789						1	1046	-									Missense_Mutation	SNP		37	c.494C>A																																																																																				0	0.488									19	42	1	0	1.30897e-18	0.009535	1.958e-18	19	42				
RABGEF1	27342	broad.mit.edu	37	7	66240233	66240233	+	Missense_Mutation	SNP	G	G	C	rs555870012		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:66240233G>C	ENST00000284957.5	+	3	276	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000439720.2_Missense_Mutation_p.E80Q|KCTD7_ENST00000510829.2_Missense_Mutation_p.E67Q|KCTD7_ENST00000380828.2_Missense_Mutation_p.E107Q|KCTD7_ENST00000451741.2_Missense_Mutation_p.E67Q|RABGEF1_ENST00000437078.2_Missense_Mutation_p.E81Q|RABGEF1_ENST00000450873.2_Missense_Mutation_p.E67Q			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	245					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)	p.E67Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						GGAGGAAGAAGAGGCCTTTGC	0.463																																							uc011kee.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(241-243)GAG>CAG		RAB guanine nucleotide exchange factor (GEF) 1							32.0	34.0	34.0					7																	66240233		2203	4297	6500	SO:0001583	missense	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66240233G>C	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.199G>C	7.37:g.66240233G>C	ENSP00000284957:p.Glu67Gln					RABGEF1_uc003tvf.2_5'UTR|RABGEF1_uc003tvg.2_5'UTR|RABGEF1_uc010lag.2_Missense_Mutation_p.E67Q|RABGEF1_uc003tvh.2_Missense_Mutation_p.E67Q|RABGEF1_uc003tvi.2_5'UTR	p.E81Q	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			3	405	+			245			Interaction with ubiquitinated proteins.		B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	c.241G>C	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	.	13.90	2.375664	0.42105	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.45668	1.58;0.9;0.9;0.9;0.9;0.89;0.89	5.56	4.68	0.58851	.	0.103924	0.64402	D	0.000005	T	0.29355	0.0731	L	0.29908	0.895	0.49915	D	0.999833	P	0.37466	0.596	B	0.34722	0.188	T	0.04400	-1.0954	10	0.19590	T	0.45	-23.0749	13.1607	0.59542	0.0759:0.0:0.9241:0.0	.	81	B4DZM7	.	Q	112;107;67;67;67;67;67;80;81	ENSP00000370208:E107Q;ENSP00000421124:E67Q;ENSP00000398177:E67Q;ENSP00000284957:E67Q;ENSP00000415815:E67Q;ENSP00000403429:E80Q;ENSP00000390480:E81Q	ENSP00000370207:E112Q	E	+	1	0	RABGEF1;KCTD7	65877668	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	9.435000	0.97529	1.353000	0.45828	0.650000	0.86243	GAG		0.463	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		10	103	0	0	0	0.001368	0	10	103				
SSC4D	136853	broad.mit.edu	37	7	76019533	76019533	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:76019533C>G	ENST00000275560.3	-	11	1918	c.1571G>C	c.(1570-1572)gGc>gCc	p.G524A	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1												p.G524A(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GTGAGCCTCGCCAGGGGCTGC	0.657																																							uc003ufb.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1570-1572)GGC>GCC		scavenger receptor cysteine rich domain							46.0	43.0	44.0					7																	76019533		2203	4300	6503	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76019533C>G																												ENST00000275560.3:c.1571G>C	7.37:g.76019533C>G	ENSP00000275560:p.Gly524Ala					SRCRB4D_uc003ufa.2_Missense_Mutation_p.A26P	p.G524A	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN			11	1919	-			524			SRCR 4.			Missense_Mutation	SNP	ENST00000275560.3	37	c.1571G>C	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973277	0.74246	.	.	ENSG00000146700	ENST00000275560	T	0.42131	0.98	5.81	5.81	0.92471	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.118678	0.56097	D	0.000028	T	0.62319	0.2418	L	0.60957	1.885	0.50632	D	0.999882	D	0.65815	0.995	D	0.79784	0.993	T	0.55263	-0.8168	10	0.34782	T	0.22	.	19.0647	0.93106	0.0:1.0:0.0:0.0	.	524	Q8WTU2	SRB4D_HUMAN	A	524	ENSP00000275560:G524A	ENSP00000275560:G524A	G	-	2	0	SRCRB4D	75857469	0.811000	0.29063	0.440000	0.26846	0.592000	0.36648	2.447000	0.44917	2.761000	0.94854	0.655000	0.94253	GGC		0.657	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			8	95	0	0	0	0.004482	0	8	95				
PCLO	27445	broad.mit.edu	37	7	82474669	82474669	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:82474669G>T	ENST00000333891.9	-	13	14301	c.13964C>A	c.(13963-13965)aCa>aAa	p.T4655K	PCLO_ENST00000423517.2_Missense_Mutation_p.T4655K|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.T4655K(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCTGCTGATGTAGGACCTGA	0.517																																							uc003uhx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(13963-13965)ACA>AAA		piccolo isoform 1							86.0	87.0	87.0					7																	82474669		2011	4168	6179	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82474669G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13964C>A	7.37:g.82474669G>T	ENSP00000334319:p.Thr4655Lys					PCLO_uc003uhv.2_Missense_Mutation_p.T4655K|PCLO_uc003uht.1_Missense_Mutation_p.T106K|PCLO_uc003uhu.1_Missense_Mutation_p.T85K	p.T4655K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			13	14253	-			4543						Missense_Mutation	SNP	ENST00000333891.9	37	c.13964C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605160	0.46423	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.15718	2.4;2.4	5.64	5.64	0.86602	.	.	.	.	.	T	0.21307	0.0513	L	0.36672	1.1	0.80722	D	1	P;P;B;B	0.41848	0.763;0.763;0.082;0.02	B;B;B;B	0.42422	0.387;0.387;0.036;0.016	T	0.00699	-1.1604	9	0.87932	D	0	.	20.0625	0.97681	0.0:0.0:1.0:0.0	.	4655;4655;85;152	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	K	4655;4655;151	ENSP00000334319:T4655K;ENSP00000388393:T4655K	ENSP00000334319:T4655K	T	-	2	0	PCLO	82312605	0.992000	0.36948	0.558000	0.28319	0.997000	0.91878	7.157000	0.77461	2.816000	0.96949	0.561000	0.74099	ACA		0.517	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	84	1	0	8.12818e-05	0.001984	9.0248e-05	6	84				
SEMA3E	9723	broad.mit.edu	37	7	83036465	83036465	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:83036465T>A	ENST00000307792.3	-	7	1228	c.761A>T	c.(760-762)gAg>gTg	p.E254V	SEMA3E_ENST00000427262.1_Missense_Mutation_p.E194V	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	254	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.E254V(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GTTTTCTGCCTCCAGTGCCTT	0.413																																							uc003uhy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(760-762)GAG>GTG		semaphorin 3E precursor							120.0	110.0	113.0					7																	83036465		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83036465T>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.761A>T	7.37:g.83036465T>A	ENSP00000303212:p.Glu254Val						p.E254V	NM_012431	NP_036563	O15041	SEM3E_HUMAN			7	1227	-		Medulloblastoma(109;0.109)	254			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.761A>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.889400	0.72524	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.28255	1.62;1.62	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.105350	0.64402	D	0.000005	T	0.62660	0.2446	M	0.90705	3.14	0.53005	D	0.999963	D	0.63880	0.993	D	0.68621	0.959	T	0.71741	-0.4501	10	0.87932	D	0	.	15.7623	0.78096	0.0:0.0:0.0:1.0	.	254	O15041	SEM3E_HUMAN	V	254;194;254	ENSP00000303212:E254V;ENSP00000405052:E194V	ENSP00000303212:E254V	E	-	2	0	SEMA3E	82874401	1.000000	0.71417	0.999000	0.59377	0.696000	0.40369	7.915000	0.87484	2.185000	0.69588	0.445000	0.29226	GAG		0.413	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		26	61	0	0	0	0.005443	0	26	61				
GRM3	2913	broad.mit.edu	37	7	86416434	86416434	+	Splice_Site	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:86416434T>G	ENST00000361669.2	+	3	2423		c.e3+2		AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Splice_Site|GRM3_ENST00000394720.2_Splice_Site|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Splice_Site|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.?(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ACTTCACGGGTAAGCCAAGAG	0.403																																					GBM(52;969 1098 3139 52280)	GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	1	Unknown(1)		lung(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.e3+2		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						89.0	90.0	90.0					7																	86416434		2203	4300	6503	SO:0001630	splice_region_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86416434T>G		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1324+2T>G	7.37:g.86416434T>G						GRM3_uc010lef.2_Splice_Site_p.G440_splice|GRM3_uc010leg.2_Splice_Site_p.A314_splice|GRM3_uc010leh.2_Intron	p.A442_splice	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	2423	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)							Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Splice_Site	SNP	ENST00000361669.2	37	c.1324_splice	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.431734	0.43122	.	.	ENSG00000198822	ENST00000361669;ENST00000536043;ENST00000439827;ENST00000394720	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0364	0.71751	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRM3	86254370	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	6.195000	0.72088	2.138000	0.66242	0.533000	0.62120	.		0.403	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2		Intron	10	199	0	0	0	0.001855	0	10	199				
ABCB1	5243	broad.mit.edu	37	7	87195392	87195392	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:87195392C>A	ENST00000265724.3	-	8	1113	c.696G>T	c.(694-696)tgG>tgT	p.W232C	ABCB1_ENST00000543898.1_Missense_Mutation_p.W168C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	232	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.W232C(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CTACCTTTGCCCAGACAGCAG	0.463																																							uc003uiz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(694-696)TGG>TGT		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						99.0	89.0	92.0					7																	87195392		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87195392C>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.696G>T	7.37:g.87195392C>A	ENSP00000265724:p.Trp232Cys					ABCB1_uc011khc.1_Missense_Mutation_p.W168C	p.W232C	NM_000927	NP_000918	P08183	MDR1_HUMAN			8	1114	-	Esophageal squamous(14;0.00164)		232			ABC transmembrane type-1 1.|Helical; (Potential).		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.696G>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.976830	0.53720	.	.	ENSG00000085563	ENST00000265724;ENST00000543898	D;D	0.90069	-2.61;-2.61	5.86	5.86	0.93980	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.163679	0.56097	D	0.000021	D	0.89784	0.6815	N	0.16368	0.405	0.80722	D	1	B;D	0.76494	0.013;0.999	B;D	0.68765	0.007;0.96	D	0.87992	0.2750	10	0.27082	T	0.32	-3.2783	20.2019	0.98263	0.0:1.0:0.0:0.0	.	168;232	B5AK60;P08183	.;MDR1_HUMAN	C	232;168	ENSP00000265724:W232C;ENSP00000444095:W168C	ENSP00000265724:W232C	W	-	3	0	ABCB1	87033328	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.672000	0.54583	2.776000	0.95493	0.655000	0.94253	TGG		0.463	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		7	91	1	0	8.12818e-05	0.001984	9.0248e-05	7	91				
AKAP9	10142	broad.mit.edu	37	7	91641910	91641910	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:91641910G>T	ENST00000359028.2	+	10	3747	c.3522G>T	c.(3520-3522)caG>caT	p.Q1174H	AKAP9_ENST00000356239.3_Missense_Mutation_p.Q1162H|AKAP9_ENST00000358100.2_Missense_Mutation_p.Q1174H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1174					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.Q1174H(2)|p.Q1162H(2)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGAACTTCAGAAAATACACC	0.328			T	BRAF	papillary thyroid																																		uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		4	Substitution - Missense(4)	p.Q1174H(1)|p.Q1162H(1)	ovary(2)|lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(3484-3486)CAG>CAT		A-kinase anchor protein 9 isoform 2							76.0	79.0	78.0					7																	91641910		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91641910G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.3522G>T	7.37:g.91641910G>T	ENSP00000351922:p.Gln1174His					AKAP9_uc003ule.2_Missense_Mutation_p.Q1174H|AKAP9_uc003ulf.2_Missense_Mutation_p.Q1162H|AKAP9_uc003uli.2_Missense_Mutation_p.Q787H	p.Q1162H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	3711	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1174			Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.3486G>T		.	.	.	.	.	.	.	.	.	.	G	8.084	0.773133	0.16051	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03496	3.91;3.91;3.91	4.66	2.74	0.32292	.	0.717110	0.11507	N	0.557096	T	0.02193	0.0068	N	0.15975	0.35	0.22940	N	0.99854	B;B;B;B	0.12630	0.001;0.002;0.006;0.003	B;B;B;B	0.09377	0.002;0.004;0.003;0.004	T	0.48811	-0.9002	10	0.22109	T	0.4	.	3.5746	0.07930	0.0867:0.1407:0.4656:0.307	.	1174;1162;1162;1174	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	H	1162;1174;1174;1174;1174	ENSP00000348573:Q1162H;ENSP00000351922:Q1174H;ENSP00000350813:Q1174H	ENSP00000348573:Q1162H	Q	+	3	2	AKAP9	91479846	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.878000	0.28126	0.598000	0.29829	0.655000	0.94253	CAG		0.328	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		16	118	1	0	0.000422831	0.004007	0.000459062	16	118				
AKAP9	10142	broad.mit.edu	37	7	91667800	91667800	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:91667800A>G	ENST00000359028.2	+	18	4667	c.4442A>G	c.(4441-4443)gAa>gGa	p.E1481G	AKAP9_ENST00000356239.3_Missense_Mutation_p.E1469G|AKAP9_ENST00000358100.2_Missense_Mutation_p.E1481G			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1481					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.E1481G(1)|p.E1469G(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGGGGAAAAGAAAATACTGCA	0.328			T	BRAF	papillary thyroid																																		uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(4405-4407)GAA>GGA		A-kinase anchor protein 9 isoform 2							62.0	63.0	62.0					7																	91667800		2203	4299	6502	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91667800A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4442A>G	7.37:g.91667800A>G	ENSP00000351922:p.Glu1481Gly					AKAP9_uc003ule.2_Missense_Mutation_p.E1481G|AKAP9_uc003ulf.2_Missense_Mutation_p.E1469G|AKAP9_uc003uli.2_Missense_Mutation_p.E1094G	p.E1469G	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		17	4631	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1481					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.4406A>G		.	.	.	.	.	.	.	.	.	.	A	3.731	-0.055571	0.07362	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03553	3.89;3.89;3.89	5.13	-0.176	0.13311	.	0.000000	0.40640	N	0.001045	T	0.04407	0.0121	M	0.65975	2.015	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.31558	-0.9939	10	0.52906	T	0.07	.	4.6297	0.12495	0.6526:0.0:0.2182:0.1292	.	1481;1469;1469;1481	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	G	1469;1481;1481;1481;1481	ENSP00000348573:E1469G;ENSP00000351922:E1481G;ENSP00000350813:E1481G	ENSP00000348573:E1469G	E	+	2	0	AKAP9	91505736	1.000000	0.71417	0.003000	0.11579	0.400000	0.30750	1.878000	0.39608	-0.194000	0.10399	-0.386000	0.06593	GAA		0.328	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		13	181	0	0	0	0.003163	0	13	181				
PEX1	5189	broad.mit.edu	37	7	92118631	92118631	+	Missense_Mutation	SNP	T	T	C	rs556201862		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:92118631T>C	ENST00000248633.4	-	23	3838	c.3743A>G	c.(3742-3744)gAt>gGt	p.D1248G	PEX1_ENST00000438045.1_Missense_Mutation_p.D926G|PEX1_ENST00000428214.1_Missense_Mutation_p.D1191G|AC007566.10_ENST00000441539.1_RNA|AC007566.10_ENST00000427458.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1248					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.D1248G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTTCCAGTCATCTTCACTAAT	0.378																																							uc003uly.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3742-3744)GAT>GGT		peroxin1							126.0	104.0	111.0					7																	92118631		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92118631T>C	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.3743A>G	7.37:g.92118631T>C	ENSP00000248633:p.Asp1248Gly					PEX1_uc011khr.1_Missense_Mutation_p.D1040G|PEX1_uc010ley.2_Missense_Mutation_p.D1191G|PEX1_uc011khs.1_Missense_Mutation_p.D926G	p.D1248G	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		23	3839	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	1248					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.3743A>G	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	T	17.82	3.482871	0.63962	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;D	0.94723	-3.45;-3.5;-3.5	5.32	5.32	0.75619	.	0.216460	0.47852	D	0.000213	D	0.93719	0.7993	L	0.60455	1.87	0.80722	D	1	P;P;P	0.40909	0.732;0.682;0.682	B;B;B	0.42798	0.244;0.398;0.287	D	0.94251	0.7493	10	0.66056	D	0.02	-13.8313	15.5651	0.76284	0.0:0.0:0.0:1.0	.	926;1040;1248	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	G	926;1248;1191	ENSP00000410438:D926G;ENSP00000248633:D1248G;ENSP00000394413:D1191G	ENSP00000248633:D1248G	D	-	2	0	PEX1	91956567	1.000000	0.71417	0.946000	0.38457	0.783000	0.44284	4.350000	0.59392	2.132000	0.65825	0.533000	0.62120	GAT		0.378	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		6	76	0	0	0	0.00308	0	6	76				
SAMD9	54809	broad.mit.edu	37	7	92732395	92732395	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:92732395G>T	ENST00000379958.2	-	3	3285	c.3016C>A	c.(3016-3018)Caa>Aaa	p.Q1006K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1006						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.Q1006K(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AACATAATTTGACTTTTATTC	0.373																																							uc003umf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(3016-3018)CAA>AAA		sterile alpha motif domain containing 9							99.0	95.0	96.0					7																	92732395		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92732395G>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3016C>A	7.37:g.92732395G>T	ENSP00000369292:p.Gln1006Lys					SAMD9_uc003umg.2_Missense_Mutation_p.Q1006K	p.Q1006K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	3272	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1006					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.3016C>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	7.780	0.709344	0.15239	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.21543	2.0;2.81	4.79	1.69	0.24217	.	0.340109	0.25968	N	0.027154	T	0.12347	0.0300	L	0.28115	0.83	0.25097	N	0.990813	B	0.06786	0.001	B	0.08055	0.003	T	0.22765	-1.0207	10	0.27785	T	0.31	-8.7596	7.8408	0.29397	0.0:0.2335:0.3735:0.393	.	1006	Q5K651	SAMD9_HUMAN	K	1006	ENSP00000369292:Q1006K;ENSP00000414529:Q1006K	ENSP00000369292:Q1006K	Q	-	1	0	SAMD9	92570331	1.000000	0.71417	0.998000	0.56505	0.802000	0.45316	0.718000	0.25866	0.570000	0.29347	-0.227000	0.12334	CAA		0.373	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		15	148	1	0	0.000219431	0.00245	0.00024066	15	148				
SAMD9	54809	broad.mit.edu	37	7	92732470	92732470	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:92732470C>A	ENST00000379958.2	-	3	3210	c.2941G>T	c.(2941-2943)Gta>Tta	p.V981L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	981						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.V981L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGATGCGTACTCCACAGTAG	0.393																																							uc003umf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(2941-2943)GTA>TTA		sterile alpha motif domain containing 9							128.0	124.0	125.0					7																	92732470		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92732470C>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2941G>T	7.37:g.92732470C>A	ENSP00000369292:p.Val981Leu					SAMD9_uc003umg.2_Missense_Mutation_p.V981L	p.V981L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	3197	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		981					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.2941G>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	2.765	-0.257014	0.05829	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.24723	1.84;2.64	4.88	1.04	0.20106	.	0.208564	0.30101	N	0.010402	T	0.11793	0.0287	N	0.24115	0.695	0.24520	N	0.99417	B	0.18968	0.032	B	0.15052	0.012	T	0.16808	-1.0390	10	0.26408	T	0.33	-1.3992	1.3249	0.02123	0.1339:0.3869:0.2303:0.2489	.	981	Q5K651	SAMD9_HUMAN	L	981	ENSP00000369292:V981L;ENSP00000414529:V981L	ENSP00000369292:V981L	V	-	1	0	SAMD9	92570406	0.040000	0.19996	0.068000	0.19968	0.165000	0.22458	0.408000	0.21065	0.015000	0.14971	-0.192000	0.12808	GTA		0.393	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		43	160	1	0	3.86361e-14	0.00361	5.46076e-14	43	160				
CALCR	799	broad.mit.edu	37	7	93090242	93090242	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:93090242C>G	ENST00000394441.1	-	7	854	c.539G>C	c.(538-540)aGg>aCg	p.R180T	CALCR_ENST00000426151.1_Missense_Mutation_p.R180T|CALCR_ENST00000359558.2_Missense_Mutation_p.R214T|CALCR_ENST00000421592.1_Missense_Mutation_p.R196T|CALCR_ENST00000360249.4_Missense_Mutation_p.R196T	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	214					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.R180T(1)|p.R214T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CAGGGTTACCCTTTGGCAGCC	0.393																																							uc003umv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(640-642)AGG>ACG		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						116.0	114.0	115.0					7																	93090242		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93090242C>G	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.539G>C	7.37:g.93090242C>G	ENSP00000377959:p.Arg180Thr					CALCR_uc011kia.1_5'UTR|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.R180T|CALCR_uc003umw.2_Missense_Mutation_p.R180T	p.R214T	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		9	902	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		196			Cytoplasmic (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.641G>C	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271975	0.80469	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.56611	0.45;0.45;0.45;1.44;1.44	5.44	5.44	0.79542	.	.	.	.	.	D	0.82591	0.5070	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88204	0.2886	9	0.87932	D	0	.	18.4169	0.90574	0.0:1.0:0.0:0.0	.	214;180	F5H605;A4D1G6	.;.	T	214;196;196;180;180	ENSP00000352561:R214T;ENSP00000353385:R196T;ENSP00000399552:R196T;ENSP00000377959:R180T;ENSP00000389295:R180T	ENSP00000352561:R214T	R	-	2	0	CALCR	92928178	0.948000	0.32251	0.018000	0.16275	0.964000	0.63967	6.733000	0.74796	2.719000	0.93026	0.555000	0.69702	AGG		0.393	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		30	239	0	0	0	0.002445	0	30	239				
PPP1R9A	55607	broad.mit.edu	37	7	94539978	94539978	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:94539978A>G	ENST00000433881.1	+	2	1085	c.553A>G	c.(553-555)Act>Gct	p.T185A	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.T185A|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T185A|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T185A|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T185A|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T185A			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	185					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.T185A(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGAGGCAGTACTGATTCCTT	0.502										HNSCC(28;0.073)																													uc003unp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(553-555)ACT>GCT		protein phosphatase 1, regulatory (inhibitor)							76.0	73.0	74.0					7																	94539978		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94539978A>G	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.553A>G	7.37:g.94539978A>G	ENSP00000398870:p.Thr185Ala	HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Missense_Mutation_p.T185A|PPP1R9A_uc011kif.1_Missense_Mutation_p.T185A|PPP1R9A_uc003unq.2_Missense_Mutation_p.T185A|PPP1R9A_uc011kig.1_Missense_Mutation_p.T185A	p.T185A	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	835	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		185					A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.553A>G	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024617	0.35701	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19;-3.19	5.66	4.48	0.54585	.	0.157636	0.56097	D	0.000033	D	0.91925	0.7443	M	0.73962	2.25	0.30635	N	0.757085	B;B;B;B;B	0.32040	0.044;0.353;0.353;0.307;0.148	B;B;B;B;B	0.33690	0.022;0.139;0.168;0.055;0.055	D	0.88631	0.3169	9	.	.	.	.	10.7723	0.46330	0.7469:0.0:0.0:0.2531	.	185;185;185;185;185	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	A	185	ENSP00000405514:T185A;ENSP00000344524:T185A;ENSP00000411342:T185A;ENSP00000398870:T185A;ENSP00000289495:T185A;ENSP00000402893:T185A	.	T	+	1	0	PPP1R9A	94377914	0.999000	0.42202	0.975000	0.42487	0.693000	0.40251	4.875000	0.63072	1.056000	0.40484	-0.468000	0.05107	ACT		0.502	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		10	136	0	0	0	0.006214	0	10	136				
CYP3A7	1551	broad.mit.edu	37	7	99332708	99332708	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:99332708G>A	ENST00000336374.2	-	1	11	c.9C>T	c.(7-9)ctC>ctT	p.L3L		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	3					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.L3L(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	AGTTTGGGATGAGATCCATCA	0.507																																							uc003uru.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(7-9)CTC>CTT		cytochrome P450, family 3, subfamily A,							179.0	147.0	158.0					7																	99332708		2203	4300	6503	SO:0001819	synonymous_variant	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99332708G>A	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.9C>T	7.37:g.99332708G>A						ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_5'UTR|CYP3A5_uc010lgg.2_Silent_p.L3L	p.L3L	NM_000765	NP_000756	P24462	CP3A7_HUMAN			1	114	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		3					A4D288|Q9H241	Silent	SNP	ENST00000336374.2	37	c.9C>T	CCDS5673.1																																																																																				0.507	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			8	151	0	0	0	0.00308	0	8	151				
MUC17	140453	broad.mit.edu	37	7	100681105	100681105	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:100681105T>A	ENST00000306151.4	+	3	6472	c.6408T>A	c.(6406-6408)tcT>tcA	p.S2136S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2136	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S2136S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGATCACTTCTACTGAAGTCA	0.468																																							uc003uxp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(6406-6408)TCT>TCA		mucin 17 precursor							208.0	208.0	208.0					7																	100681105		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681105T>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6408T>A	7.37:g.100681105T>A						MUC17_uc010lho.1_RNA	p.S2136S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	6461	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2136			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|34.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6408T>A	CCDS34711.1																																																																																				0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		151	524	0	0	0	0.00361	0	151	524				
MUC17	140453	broad.mit.edu	37	7	100683741	100683741	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:100683741G>T	ENST00000306151.4	+	3	9108	c.9044G>T	c.(9043-9045)aGc>aTc	p.S3015I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3015	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S3015I(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTGACACCAGCACACCTGTG	0.502																																							uc003uxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9043-9045)AGC>ATC		mucin 17 precursor							255.0	269.0	264.0					7																	100683741		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683741G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9044G>T	7.37:g.100683741G>T	ENSP00000302716:p.Ser3015Ile					MUC17_uc010lho.1_RNA	p.S3015I	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9097	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3015			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|49.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9044G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.858	-0.736160	0.03111	.	.	ENSG00000169876	ENST00000306151	T	0.02236	4.38	0.811	-1.62	0.08372	.	.	.	.	.	T	0.01454	0.0047	L	0.32530	0.975	0.09310	N	1	P	0.47604	0.898	B	0.34180	0.177	T	0.47195	-0.9136	9	0.36615	T	0.2	.	4.2564	0.10719	0.2348:0.2803:0.4849:0.0	.	3015	Q685J3	MUC17_HUMAN	I	3015	ENSP00000302716:S3015I	ENSP00000302716:S3015I	S	+	2	0	MUC17	100470461	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-4.007000	0.00315	-0.665000	0.05317	-1.713000	0.00713	AGC		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		36	793	1	0	3.78316e-11	0.00623	5.024e-11	36	793				
TRIM56	81844	broad.mit.edu	37	7	100732027	100732027	+	Silent	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:100732027G>C	ENST00000306085.6	+	3	1731	c.1434G>C	c.(1432-1434)ctG>ctC	p.L478L		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	478					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L478L(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCCAGCCCTGGGGCCGAATC	0.622																																					Ovarian(89;1092 1379 22756 38989 39611)	Ovarian(89;1092 1379 22756 38989 39611)	uc003uxq.2		NA																	2	Substitution - coding silent(2)		lung(2)	kidney(1)|central_nervous_system(1)|skin(1)	3						c.(1432-1434)CTG>CTC		tripartite motif-containing 56							56.0	66.0	63.0					7																	100732027		1922	4116	6038	SO:0001819	synonymous_variant	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100732027G>C	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1434G>C	7.37:g.100732027G>C						TRIM56_uc003uxr.2_Intron	p.L478L	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN			3	1665	+	Lung NSC(181;0.136)|all_lung(186;0.182)		478					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	c.1434G>C	CCDS43625.1																																																																																				0.622	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		91	290	0	0	0	0.00361	0	91	290				
MOGAT3	346606	broad.mit.edu	37	7	100841620	100841620	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:100841620G>T	ENST00000223114.4	-	5	686	c.520C>A	c.(520-522)Ctg>Atg	p.L174M	MOGAT3_ENST00000379423.3_Missense_Mutation_p.L174M|MOGAT3_ENST00000440203.2_Missense_Mutation_p.L174M	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	174					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)	p.L174M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					ATGAAGTCCAGGCTCTGGCGG	0.662																																							uc003uyc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(520-522)CTG>ATG		monoacylglycerol O-acyltransferase 3							36.0	41.0	39.0					7																	100841620		2203	4300	6503	SO:0001583	missense	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100841620G>T	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.520C>A	7.37:g.100841620G>T	ENSP00000223114:p.Leu174Met					MOGAT3_uc010lhr.2_Missense_Mutation_p.L174M	p.L174M	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN			5	687	-	Lung NSC(181;0.168)|all_lung(186;0.215)		174					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.520C>A	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	.	12.36	1.913518	0.33815	.	.	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	T;T;T	0.17370	2.28;2.28;2.28	5.03	3.23	0.37069	.	0.000000	0.64402	D	0.000001	T	0.29190	0.0726	L	0.52126	1.63	0.26521	N	0.974436	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	T	0.05241	-1.0897	10	0.40728	T	0.16	-20.3463	5.7181	0.17972	0.178:0.1594:0.6627:0.0	.	174;174	Q86VF5-2;Q86VF5	.;MOGT3_HUMAN	M	174	ENSP00000223114:L174M;ENSP00000403756:L174M;ENSP00000368734:L174M	ENSP00000223114:L174M	L	-	1	2	MOGAT3	100628340	0.659000	0.27411	0.056000	0.19401	0.072000	0.16883	0.033000	0.13754	0.539000	0.28788	-0.362000	0.07510	CTG		0.662	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		29	93	1	0	8.58068e-18	0.007291	1.27644e-17	29	93				
COL26A1	136227	broad.mit.edu	37	7	101091001	101091001	+	RNA	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:101091001C>G	ENST00000397927.3	+	0	531				COL26A1_ENST00000313669.7_RNA|COL26A1_ENST00000528707.1_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.S106S(1)									ACAGAGTGTCCTACCGCACGG	0.617																																							uc010lhy.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(310-312)TCC>TCG		EMI domain containing 2							48.0	49.0	48.0					7																	101091001		2078	4212	6290			136227					collagen		g.chr7:101091001C>G	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101091001C>G						EMID2_uc003uyo.1_Silent_p.S106S	p.S104S	NM_133457	NP_597714	Q96A83	EMID2_HUMAN			3	504	+	Lung NSC(181;0.215)		106			EMI.		Q32M90	Silent	SNP	ENST00000397927.3	37	c.312C>G																																																																																					0.617	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		7	34	0	0	0	0.004482	0	7	34				
RELN	5649	broad.mit.edu	37	7	103130329	103130329	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:103130329C>A	ENST00000428762.1	-	60	9782	c.9623G>T	c.(9622-9624)tGg>tTg	p.W3208L	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.W3208L|RELN_ENST00000424685.2_Missense_Mutation_p.W3208L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3208					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.W3208L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTTCTGGATCCAGCGGAACTG	0.547																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(9622-9624)TGG>TTG		reelin isoform a							102.0	81.0	88.0					7																	103130329		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103130329C>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9623G>T	7.37:g.103130329C>A	ENSP00000392423:p.Trp3208Leu					RELN_uc010liz.2_Missense_Mutation_p.W3208L	p.W3208L	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	60	9783	-			3208					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.9623G>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667065	0.88251	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.56275	0.48;0.48;0.47	5.81	5.81	0.92471	.	0.064020	0.64402	D	0.000002	T	0.67552	0.2905	M	0.68952	2.095	0.80722	D	1	P;B	0.48294	0.908;0.228	P;B	0.53809	0.735;0.141	T	0.69213	-0.5204	10	0.87932	D	0	.	20.0795	0.97766	0.0:1.0:0.0:0.0	.	3208;3208	P78509-2;P78509	.;RELN_HUMAN	L	3208;3208;3208;725;3208	ENSP00000392423:W3208L;ENSP00000345694:W3208L;ENSP00000388446:W3208L	ENSP00000345694:W3208L	W	-	2	0	RELN	102917565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.280000	0.78610	2.747000	0.94245	0.650000	0.86243	TGG		0.547	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		21	82	1	0	2.39556e-15	0.00278	3.44462e-15	21	82				
SLC26A4	5172	broad.mit.edu	37	7	107323753	107323753	+	Missense_Mutation	SNP	G	G	T	rs138816005	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:107323753G>T	ENST00000265715.3	+	7	1096	c.872G>T	c.(871-873)cGg>cTg	p.R291L		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	291					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.R291L(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTAAATGATCGGTTTAGACAC	0.358									Pendred syndrome																														uc003vep.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(871-873)CGG>CTG		pendrin							136.0	134.0	135.0					7																	107323753		2202	4300	6502	SO:0001583	missense	5172	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107323753G>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.872G>T	7.37:g.107323753G>T	ENSP00000265715:p.Arg291Leu						p.R291L	NM_000441	NP_000432	O43511	S26A4_HUMAN			7	1096	+			291			Cytoplasmic (Potential).		B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.872G>T	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181852	0.78677	.	.	ENSG00000091137	ENST00000265715	D	0.93247	-3.19	5.35	5.35	0.76521	Sulphate transporter (1);	0.086607	0.47455	D	0.000240	D	0.96163	0.8749	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95656	0.8711	10	0.56958	D	0.05	.	19.6142	0.95626	0.0:0.0:1.0:0.0	.	291	O43511	S26A4_HUMAN	L	291	ENSP00000265715:R291L	ENSP00000265715:R291L	R	+	2	0	SLC26A4	107110989	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.441000	0.52893	2.941000	0.99782	0.655000	0.94253	CGG		0.358	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		28	239	1	0	7.63215e-27	0.009535	1.22137e-26	28	239				
SLC26A3	1811	broad.mit.edu	37	7	107408247	107408247	+	Silent	SNP	C	C	T	rs142908255	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:107408247C>T	ENST00000340010.5	-	19	2353	c.2169G>A	c.(2167-2169)aaG>aaA	p.K723K	SLC26A3_ENST00000422236.2_Silent_p.K610K	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	723					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.K723K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TGTAATCTTTCTTCATCAAAA	0.348																																							uc003ver.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(2167-2169)AAG>AAA		solute carrier family 26, member 3							106.0	108.0	107.0					7																	107408247		2203	4300	6503	SO:0001819	synonymous_variant	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107408247C>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.2169G>A	7.37:g.107408247C>T						SLC26A3_uc003ves.2_Silent_p.K610K	p.K723K	NM_000111	NP_000102	P40879	S26A3_HUMAN			19	2380	-			723						Silent	SNP	ENST00000340010.5	37	c.2169G>A	CCDS5748.1																																																																																				0.348	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		11	167	0	0	0	0.001368	0	11	167				
DOCK4	9732	broad.mit.edu	37	7	111638539	111638539	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:111638539T>A	ENST00000437633.1	-	4	438	c.182A>T	c.(181-183)tAc>tTc	p.Y61F	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.Y61F	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	61	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.Y49F(1)|p.Y61F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CAAGTGAACGTAGCTGGAAGG	0.388																																							uc003vfx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(181-183)TAC>TTC		dedicator of cytokinesis 4							94.0	86.0	88.0					7																	111638539		1839	4094	5933	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111638539T>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.182A>T	7.37:g.111638539T>A	ENSP00000404179:p.Tyr61Phe					DOCK4_uc003vfy.2_Missense_Mutation_p.Y61F|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.Y61F|DOCK4_uc003vgb.1_5'UTR	p.Y61F	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			4	451	-		Acute lymphoblastic leukemia(1;0.0441)	61			SH3.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.182A>T	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.94|15.94	2.981627|2.981627	0.53827|0.53827	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.08102	.|3.13;3.13	5.08|5.08	3.84|3.84	0.44239|0.44239	.|Src homology-3 domain (3);Variant SH3 (1);	.|0.189378	.|0.48286	.|D	.|0.000192	T|T	0.13072|0.13072	0.0317|0.0317	L|L	0.57130|0.57130	1.785|1.785	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.39782	.|0.553;0.688;0.688	.|B;P;P	.|0.45712	.|0.34;0.491;0.491	T|T	0.01149|0.01149	-1.1436|-1.1436	5|10	.|0.51188	.|T	.|0.08	.|.	9.0966|9.0966	0.36642|0.36642	0.1628:0.0:0.0:0.8372|0.1628:0.0:0.0:0.8372	.|.	.|61;61;61	.|A4D0S8;Q149N5;Q8N1I0	.|.;.;DOCK4_HUMAN	S|F	49|49;61;61;49;60	.|ENSP00000410746:Y61F;ENSP00000404179:Y61F	.|ENSP00000345432:Y49F	T|Y	-|-	1|2	0|0	DOCK4|DOCK4	111425775|111425775	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.974000|0.974000	0.67602|0.67602	2.159000|2.159000	0.42339|0.42339	2.048000|2.048000	0.60808|0.60808	0.460000|0.460000	0.39030|0.39030	ACG|TAC		0.388	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		4	7	0	0	0	0.000602	0	4	7				
ASZ1	136991	broad.mit.edu	37	7	117067469	117067469	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:117067469C>T	ENST00000284629.2	-	1	108	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1									p.E16K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TCGCTACTCTCGCCTCCGCCA	0.667											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc003vjb.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(46-48)GAG>AAG		ankyrin repeat, SAM and basic leucine zipper							57.0	53.0	54.0					7																	117067469		2203	4300	6503	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117067469C>T	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.46G>A	7.37:g.117067469C>T	ENSP00000284629:p.Glu16Lys		OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1478	ASZ1_uc011kno.1_Missense_Mutation_p.E16K|ASZ1_uc011knp.1_5'UTR	p.E16K	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		1	109	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		16						Missense_Mutation	SNP	ENST00000284629.2	37	c.46G>A	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721436	0.89298	.	.	ENSG00000154438	ENST00000284629	T	0.69306	-0.39	5.14	5.14	0.70334	.	0.057091	0.64402	D	0.000002	T	0.81880	0.4916	M	0.78049	2.395	0.48452	D	0.99965	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	D	0.83488	0.0068	10	0.72032	D	0.01	-1.79	16.4814	0.84158	0.0:1.0:0.0:0.0	.	16;16	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	K	16	ENSP00000284629:E16K	ENSP00000284629:E16K	E	-	1	0	ASZ1	116854705	1.000000	0.71417	0.999000	0.59377	0.576000	0.36127	3.829000	0.55760	2.829000	0.97493	0.655000	0.94253	GAG		0.667	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		6	101	0	0	0	0.001984	0	6	101				
CPED1	79974	broad.mit.edu	37	7	120781037	120781037	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:120781037A>T	ENST00000310396.5	+	15	2323	c.1856A>T	c.(1855-1857)aAg>aTg	p.K619M	CPED1_ENST00000423795.1_Missense_Mutation_p.K399M|CPED1_ENST00000450913.2_Missense_Mutation_p.K619M	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	619						endoplasmic reticulum (GO:0005783)		p.K619M(1)									TGTCTGTGCAAGGTGCACCTG	0.438																																							uc003vjq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(1855-1857)AAG>ATG		hypothetical protein LOC79974 isoform 1							80.0	80.0	80.0					7																	120781037		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120781037A>T		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1856A>T	7.37:g.120781037A>T	ENSP00000309772:p.Lys619Met					C7orf58_uc003vjs.3_Missense_Mutation_p.K619M|C7orf58_uc003vjt.3_Missense_Mutation_p.K399M	p.K619M	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			15	2303	+	all_neural(327;0.117)		619					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.1856A>T	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.711065	0.68730	.	.	ENSG00000106034	ENST00000310396;ENST00000450913;ENST00000423795	T;T;T	0.25749	2.1;1.78;1.78	5.58	0.312	0.15837	.	0.622082	0.17036	N	0.189534	T	0.37972	0.1023	M	0.62723	1.935	0.50171	D	0.999853	D;D;D	0.64830	0.958;0.989;0.994	P;P;P	0.62298	0.723;0.799;0.9	T	0.14364	-1.0475	10	0.66056	D	0.02	.	6.1221	0.20159	0.5996:0.2064:0.194:0.0	.	399;619;619	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	M	619;619;399	ENSP00000309772:K619M;ENSP00000406122:K619M;ENSP00000415573:K399M	ENSP00000309772:K619M	K	+	2	0	C7orf58	120568273	0.836000	0.29430	0.927000	0.36925	0.964000	0.63967	1.494000	0.35616	-0.167000	0.10871	0.460000	0.39030	AAG		0.438	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		7	31	0	0	0	0.004482	0	7	31				
CPED1	79974	broad.mit.edu	37	7	120876814	120876814	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:120876814C>A	ENST00000310396.5	+	17	2569	c.2102C>A	c.(2101-2103)cCt>cAt	p.P701H	CPED1_ENST00000423795.1_Missense_Mutation_p.P481H|CPED1_ENST00000450913.2_Missense_Mutation_p.P701H	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	701						endoplasmic reticulum (GO:0005783)		p.P701H(1)									GGGTTACAGCCTATTTCTTCT	0.358																																							uc003vjq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(2101-2103)CCT>CAT		hypothetical protein LOC79974 isoform 1							110.0	108.0	109.0					7																	120876814		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120876814C>A		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2102C>A	7.37:g.120876814C>A	ENSP00000309772:p.Pro701His					C7orf58_uc003vjs.3_Missense_Mutation_p.P701H|C7orf58_uc003vjt.3_Missense_Mutation_p.P481H	p.P701H	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			17	2549	+	all_neural(327;0.117)		701					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.2102C>A	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643156	0.67244	.	.	ENSG00000106034	ENST00000310396;ENST00000450913;ENST00000423795	T;T;T	0.23552	2.23;1.9;1.91	5.86	3.92	0.45320	.	0.325255	0.28809	N	0.014070	T	0.41766	0.1173	M	0.64997	1.995	0.80722	D	1	D;D;B	0.58268	0.982;0.982;0.025	P;P;B	0.57620	0.824;0.824;0.022	T	0.40232	-0.9574	10	0.66056	D	0.02	.	13.1957	0.59736	0.2895:0.7105:0.0:0.0	.	481;701;701	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	H	701;701;481	ENSP00000309772:P701H;ENSP00000406122:P701H;ENSP00000415573:P481H	ENSP00000309772:P701H	P	+	2	0	C7orf58	120664050	0.926000	0.31397	0.995000	0.50966	0.997000	0.91878	1.737000	0.38197	1.446000	0.47643	0.585000	0.79938	CCT		0.358	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		12	87	1	0	1.5842e-08	0.001855	1.99554e-08	12	87				
ASB15	142685	broad.mit.edu	37	7	123267198	123267198	+	Silent	SNP	G	G	T	rs373328275		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:123267198G>T	ENST00000451558.1	+	11	1253	c.732G>T	c.(730-732)gcG>gcT	p.A244A	ASB15_ENST00000451215.1_Silent_p.A244A|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000275699.3_Silent_p.A244A|RP11-390E23.3_ENST00000451016.1_RNA|ASB15_ENST00000540573.1_Silent_p.A244A|RP11-390E23.3_ENST00000418409.1_RNA|RP11-390E23.3_ENST00000429396.1_RNA|ASB15_ENST00000434204.1_Silent_p.A244A|RP11-390E23.3_ENST00000440504.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	244					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.A244A(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ATGATGGGGCGTCGGTGCTGT	0.493																																							uc003vku.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|lung(1)	3						c.(730-732)GCG>GCT		ankyrin repeat and SOCS box-containing 15							178.0	141.0	153.0					7																	123267198		2203	4300	6503	SO:0001819	synonymous_variant	142685				intracellular signal transduction			g.chr7:123267198G>T	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.732G>T	7.37:g.123267198G>T						ASB15_uc003vkv.1_Silent_p.A244A|ASB15_uc003vkw.1_Silent_p.A244A	p.A244A	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN			9	1024	+			244			ANK 5.		Q3ZCP3|Q3ZCP5|Q68D37	Silent	SNP	ENST00000451558.1	37	c.732G>T	CCDS34742.1																																																																																				0.493	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			53	145	1	0	5.73332e-34	0.00361	9.48507e-34	53	145				
GRM8	2918	broad.mit.edu	37	7	126173711	126173711	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:126173711G>T	ENST00000339582.2	-	9	2533	c.1725C>A	c.(1723-1725)atC>atA	p.I575I	GRM8_ENST00000358373.3_Silent_p.I575I|GRM8_ENST00000444921.2_Silent_p.I575I|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	575					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.I575I(1)|p.I575M(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				ACTCCAATTTGATGATGGGGA	0.507										HNSCC(24;0.065)																													uc003vlr.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)	p.I575M(1)	lung(2)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1723-1725)ATC>ATA		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						138.0	121.0	126.0					7																	126173711		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173711G>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1725C>A	7.37:g.126173711G>T		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.I575I|GRM8_uc010lkz.1_RNA	p.I575I	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2036	-		Prostate(267;0.186)	575			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.1725C>A	CCDS5794.1																																																																																				0.507	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			20	99	1	0	5.26018e-13	0.001882	7.30053e-13	20	99				
PAX4	5078	broad.mit.edu	37	7	127253575	127253575	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:127253575C>A	ENST00000341640.2	-	5	755	c.550G>T	c.(550-552)Ggg>Tgg	p.G184W	PAX4_ENST00000338516.3_Missense_Mutation_p.G192W|PAX4_ENST00000378740.2_Missense_Mutation_p.G184W|PAX4_ENST00000463946.1_Missense_Mutation_p.G182W	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	192					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.G184W(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGATACTGCCCACGCTGGAAC	0.577																																					Ovarian(113;737 1605 7858 27720 34092)	Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(550-552)GGG>TGG		paired box 4							61.0	61.0	61.0					7																	127253575		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127253575C>A		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.550G>T	7.37:g.127253575C>A	ENSP00000339906:p.Gly184Trp					PAX4_uc003vmf.2_Missense_Mutation_p.G182W|PAX4_uc003vmg.1_Missense_Mutation_p.G184W|PAX4_uc003vmh.2_Missense_Mutation_p.G182W	p.G184W	NM_006193	NP_006184	O43316	PAX4_HUMAN			5	756	-			192			Homeobox.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.550G>T	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938598	0.52972	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.95412	-3.7;-3.7;-3.7	4.24	4.24	0.50183	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.217575	0.41001	D	0.000980	D	0.91945	0.7449	N	0.24115	0.695	0.47905	D	0.999541	B;B;B;B	0.32543	0.105;0.241;0.128;0.375	B;B;B;B	0.37451	0.112;0.157;0.25;0.213	D	0.92153	0.5730	10	0.87932	D	0	.	14.9479	0.71047	0.0:1.0:0.0:0.0	.	184;182;192;182	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	W	184;192;192;182	ENSP00000339906:G184W;ENSP00000344297:G192W;ENSP00000451923:G182W	ENSP00000344297:G192W	G	-	1	0	PAX4	127040811	0.984000	0.35163	1.000000	0.80357	0.991000	0.79684	2.467000	0.45093	2.661000	0.90470	0.650000	0.86243	GGG		0.577	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			36	60	1	0	6.2361e-21	0.007835	9.59469e-21	36	60				
SSMEM1	136263	broad.mit.edu	37	7	129853326	129853326	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:129853326G>A	ENST00000297819.3	+	2	241	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	64						integral component of membrane (GO:0016021)		p.E64K(1)									ACAGATGTCTGAGGATAAAAA	0.373																																							uc003vpp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(190-192)GAG>AAG		hypothetical protein LOC136263							179.0	152.0	161.0					7																	129853326		2203	4300	6503	SO:0001583	missense	136263					integral to membrane		g.chr7:129853326G>A	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.190G>A	7.37:g.129853326G>A	ENSP00000297819:p.Glu64Lys						p.E64K	NM_145268	NP_660311	Q8WWF3	CG045_HUMAN			2	237	+	Melanoma(18;0.0435)		64						Missense_Mutation	SNP	ENST00000297819.3	37	c.190G>A	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776389	0.31411	.	.	ENSG00000165120	ENST00000297819	T	0.47869	0.83	5.72	2.97	0.34412	.	0.091068	0.47852	D	0.000213	T	0.32376	0.0827	L	0.32530	0.975	0.36236	D	0.85298	B	0.10296	0.003	B	0.14578	0.011	T	0.21381	-1.0247	10	0.31617	T	0.26	-9.0459	7.1358	0.25527	0.2687:0.0:0.7313:0.0	.	64	Q8WWF3	CG045_HUMAN	K	64	ENSP00000297819:E64K	ENSP00000297819:E64K	E	+	1	0	C7orf45	129640562	1.000000	0.71417	0.964000	0.40570	0.662000	0.39071	1.475000	0.35409	0.775000	0.33450	-0.263000	0.10527	GAG		0.373	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		28	210	0	0	0	0.008361	0	28	210				
TSGA13	114960	broad.mit.edu	37	7	130364188	130364188	+	Silent	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:130364188A>G	ENST00000456951.1	-	6	1043	c.192T>C	c.(190-192)ccT>ccC	p.P64P	TSGA13_ENST00000356588.3_Silent_p.P64P			Q96PP4	TSG13_HUMAN	testis specific, 13	64								p.P64P(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TGGCCTTCAAAGGCTTATAGT	0.438																																							uc003vqi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(190-192)CCT>CCC		testis specific, 13							90.0	81.0	84.0					7																	130364188		2203	4299	6502	SO:0001819	synonymous_variant	114960							g.chr7:130364188A>G	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.192T>C	7.37:g.130364188A>G						TSGA13_uc003vqj.2_Silent_p.P64P	p.P64P	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN			5	649	-	Melanoma(18;0.0435)		64					B3KSC9	Silent	SNP	ENST00000456951.1	37	c.192T>C	CCDS5824.1																																																																																				0.438	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		12	62	0	0	0	0.003163	0	12	62				
PLXNA4	91584	broad.mit.edu	37	7	131870132	131870132	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:131870132G>C	ENST00000359827.3	-	16	4046	c.3084C>G	c.(3082-3084)atC>atG	p.I1028M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.I1028M			Q9HCM2	PLXA4_HUMAN	plexin A4	1028	IPT/TIG 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.I1028M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGTCCTGGTGGATCTTGGCCC	0.557																																							uc003vra.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3082-3084)ATC>ATG		plexin A4 isoform 1							129.0	134.0	132.0					7																	131870132		2077	4208	6285	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131870132G>C	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3084C>G	7.37:g.131870132G>C	ENSP00000352882:p.Ile1028Met						p.I1028M	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			16	3313	-			1028			IPT/TIG 2.|Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3084C>G	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860889	0.51482	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.76968	-1.06;-1.06	5.33	4.45	0.53987	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.160422	0.53938	D	0.000053	T	0.74558	0.3732	M	0.76170	2.325	0.47407	D	0.99941	B	0.22604	0.072	B	0.28553	0.091	T	0.69650	-0.5088	10	0.34782	T	0.22	.	6.6267	0.22833	0.149:0.0:0.706:0.145	.	1028	Q9HCM2	PLXA4_HUMAN	M	1028	ENSP00000323194:I1028M;ENSP00000352882:I1028M	ENSP00000323194:I1028M	I	-	3	3	PLXNA4	131520672	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.012000	0.40932	1.259000	0.44117	0.561000	0.74099	ATC		0.557	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		30	133	0	0	0	0.009535	0	30	133				
CALD1	800	broad.mit.edu	37	7	134617840	134617840	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:134617840G>T	ENST00000361675.2	+	5	549	c.320G>T	c.(319-321)cGc>cTc	p.R107L	CALD1_ENST00000422748.1_Missense_Mutation_p.R107L|CALD1_ENST00000361901.2_Missense_Mutation_p.R107L|CALD1_ENST00000361388.2_Missense_Mutation_p.R107L|CALD1_ENST00000495522.1_Missense_Mutation_p.R101L|CALD1_ENST00000543443.1_Missense_Mutation_p.R112L|CALD1_ENST00000424922.1_Missense_Mutation_p.R101L|CALD1_ENST00000417172.1_Missense_Mutation_p.R107L|CALD1_ENST00000393118.2_Missense_Mutation_p.R101L			Q05682	CALD1_HUMAN	caldesmon 1	107	Myosin and calmodulin-binding. {ECO:0000250}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.R107L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GAGGAAAGACGCCAAAAACGC	0.557																																							uc003vrz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(319-321)CGC>CTC		caldesmon 1 isoform 1							55.0	51.0	52.0					7																	134617840		2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134617840G>T	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.320G>T	7.37:g.134617840G>T	ENSP00000354826:p.Arg107Leu					CALD1_uc003vry.2_Missense_Mutation_p.R107L|CALD1_uc003vsa.2_Missense_Mutation_p.R107L|CALD1_uc003vsb.2_Missense_Mutation_p.R107L|CALD1_uc010lmm.2_Missense_Mutation_p.R107L|CALD1_uc011kpt.1_Intron|CALD1_uc003vsc.2_Missense_Mutation_p.R101L|CALD1_uc003vsd.2_Missense_Mutation_p.R101L|CALD1_uc011kpu.1_Missense_Mutation_p.R112L|CALD1_uc011kpv.1_5'UTR|CALD1_uc003vse.2_5'UTR	p.R107L	NM_033138	NP_149129	Q05682	CALD1_HUMAN			5	779	+			107			Myosin and calmodulin-binding (By similarity).		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.320G>T	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489095	0.84962	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000445569;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.38	5.38	0.77491	.	0.000000	0.53938	D	0.000059	T	0.70228	0.3200	M	0.77820	2.39	0.50171	D	0.99985	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.998;0.997;0.997;0.997;0.997;0.999;0.998	T	0.72312	-0.4331	10	0.52906	T	0.07	-6.3471	17.3065	0.87196	0.0:0.0:1.0:0.0	.	112;107;101;101;107;107;107;107	F5H1Z9;A8K0X1;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;CALD1_HUMAN;.	L	107;107;107;107;107;107;121;101;101;101;112	ENSP00000398826:R107L;ENSP00000411476:R107L;ENSP00000355000:R107L;ENSP00000395710:R107L;ENSP00000354826:R107L;ENSP00000354513:R107L;ENSP00000390926:R121L;ENSP00000376826:R101L;ENSP00000393621:R101L;ENSP00000419673:R101L;ENSP00000445641:R112L	ENSP00000355000:R107L	R	+	2	0	CALD1	134268380	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.514000	0.90545	2.497000	0.84241	0.557000	0.71058	CGC		0.557	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		12	67	1	0	1.3612e-06	0.003163	1.59871e-06	12	67				
DGKI	9162	broad.mit.edu	37	7	137080403	137080403	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:137080403G>T	ENST00000288490.5	-	33	3022	c.3022C>A	c.(3022-3024)Cgg>Agg	p.R1008R	DGKI_ENST00000424189.2_Silent_p.R1021R|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Silent_p.R990R|DGKI_ENST00000453654.2_Silent_p.R677R	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1008					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.R1008R(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CACACAGCCCGGTTCCGCTGG	0.562																																							uc003vtt.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(3022-3024)CGG>AGG		diacylglycerol kinase, iota							74.0	66.0	69.0					7																	137080403		2203	4300	6503	SO:0001819	synonymous_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137080403G>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.3022C>A	7.37:g.137080403G>T						DGKI_uc003vtu.2_Silent_p.R677R	p.R1008R	NM_004717	NP_004708	O75912	DGKI_HUMAN			33	3023	-			1008			ANK 2.		A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	c.3022C>A	CCDS5845.1																																																																																				0.562	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		15	64	1	0	2.35188e-11	0.006122	3.14655e-11	15	64				
AKR1D1	6718	broad.mit.edu	37	7	137776546	137776546	+	Silent	SNP	C	C	A	rs113371817		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:137776546C>A	ENST00000242375.3	+	3	336	c.294C>A	c.(292-294)gtC>gtA	p.V98V	AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000411726.2_Silent_p.V98V|RN7SKP223_ENST00000410582.1_RNA|AKR1D1_ENST00000432161.1_Silent_p.V98V	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	98					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.V98V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	CAGAGATGGTCCGCCCAACCC	0.463																																							uc003vtz.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(292-294)GTC>GTA		aldo-keto reductase family 1, member D1							96.0	92.0	93.0					7																	137776546		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:137776546C>A	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.294C>A	7.37:g.137776546C>A						AKR1D1_uc011kqb.1_Silent_p.V98V|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Silent_p.V98V|AKR1D1_uc011kqf.1_Silent_p.V98V|AKR1D1_uc010lmy.1_RNA	p.V98V	NM_005989	NP_005980	P51857	AK1D1_HUMAN			3	363	+			98					A1L4P6|A8K060|B4DPN3|B4DPN8	Silent	SNP	ENST00000242375.3	37	c.294C>A	CCDS5846.1																																																																																				0.463	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		44	88	1	0	3.86361e-14	0.00361	5.46076e-14	44	88				
SVOPL	136306	broad.mit.edu	37	7	138313080	138313080	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:138313080C>A	ENST00000419765.3	-	10	925	c.892G>T	c.(892-894)Gtt>Ttt	p.V298F	SVOPL_ENST00000436657.1_Missense_Mutation_p.V146F|SVOPL_ENST00000288513.5_Missense_Mutation_p.V146F|SVOPL_ENST00000421622.1_Missense_Mutation_p.V178F|SVOPL_ENST00000463557.1_5'Flank	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	298						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.V298F(1)|p.V146F(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GCCAGGATAACCCCATAGTAG	0.562																																							uc011kqh.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(892-894)GTT>TTT		SVOP-like isoform 1							71.0	69.0	70.0					7																	138313080		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138313080C>A	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.892G>T	7.37:g.138313080C>A	ENSP00000405482:p.Val298Phe					SVOPL_uc003vue.2_Missense_Mutation_p.V146F	p.V298F	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN			10	892	-			298			Helical; (Potential).			Missense_Mutation	SNP	ENST00000419765.3	37	c.892G>T	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521109	0.44866	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.58210	0.35;0.35;0.35;0.41	4.47	3.59	0.41128	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.331465	0.33005	N	0.005392	T	0.62744	0.2453	L	0.52126	1.63	0.34710	D	0.72763	D;D	0.69078	0.997;0.97	D;P	0.68621	0.959;0.62	T	0.71567	-0.4554	10	0.49607	T	0.09	-32.779	10.8136	0.46562	0.0:0.9125:0.0:0.0875	.	298;146	Q8N434;Q8N434-2	SVOPL_HUMAN;.	F	146;178;146;298	ENSP00000288513:V146F;ENSP00000412830:V178F;ENSP00000417018:V146F;ENSP00000405482:V298F	ENSP00000288513:V146F	V	-	1	0	SVOPL	137963620	0.984000	0.35163	0.993000	0.49108	0.240000	0.25518	2.636000	0.46545	1.102000	0.41551	-0.253000	0.11424	GTT		0.562	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		5	93	1	0	0.000157383	0.00308	0.000173315	5	93				
WEE2	494551	broad.mit.edu	37	7	141424063	141424063	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:141424063G>A	ENST00000397541.2	+	8	1615	c.1209G>A	c.(1207-1209)gaG>gaA	p.E403E	WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	403	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.E403E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TGGCTAATGAGATTTTGCAAG	0.373																																							uc003vwn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|stomach(1)	2						c.(1207-1209)GAG>GAA		WEE1 homolog 2							107.0	106.0	106.0					7																	141424063		1835	4080	5915	SO:0001819	synonymous_variant	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141424063G>A	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1209G>A	7.37:g.141424063G>A						FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	p.E403E	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN			8	1615	+	Melanoma(164;0.0171)		403			Protein kinase.			Silent	SNP	ENST00000397541.2	37	c.1209G>A	CCDS43660.1																																																																																				0.373	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		15	188	0	0	0	0.003163	0	15	188				
MGAM	8972	broad.mit.edu	37	7	141805626	141805626	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:141805626G>C	ENST00000549489.2	+	48	5604	c.5509G>C	c.(5509-5511)Gat>Cat	p.D1837H	MGAM_ENST00000475668.2_Missense_Mutation_p.D2733H	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1837					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.D1837H(2)|p.D2734H(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATTAAGCATCGATGTGACTGA	0.373																																							uc003vwy.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(5509-5511)GAT>CAT		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						127.0	118.0	121.0					7																	141805626		1851	4112	5963	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141805626G>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5509G>C	7.37:g.141805626G>C	ENSP00000447378:p.Asp1837His						p.D1837H	NM_004668	NP_004659	O43451	MGA_HUMAN			48	5563	+	Melanoma(164;0.0272)		1837			Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.5509G>C	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103759	0.37145	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.89552	-2.53	5.43	-3.87	0.04218	.	.	.	.	.	D	0.83198	0.5202	L	0.45137	1.4	0.09310	N	1	B	0.20887	0.049	B	0.16722	0.016	T	0.69423	-0.5149	9	0.54805	T	0.06	.	12.6769	0.56899	0.7837:0.0:0.2163:0.0	.	1837	O43451	MGA_HUMAN	H	1837;2734	ENSP00000447378:D1837H	ENSP00000373973:D1837H	D	+	1	0	MGAM	141452095	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.618000	0.05578	-0.629000	0.05575	-0.123000	0.14984	GAT		0.373	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			18	157	0	0	0	0.001882	0	18	157				
PRSS1	5644	broad.mit.edu	37	7	142460317	142460317	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:142460317C>T	ENST00000311737.7	+	4	496	c.490C>T	c.(490-492)Cct>Tct	p.P164S	PRSS1_ENST00000486171.1_Missense_Mutation_p.P178S	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	164	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P164S(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CCTGGATGCTCCTGTGCTGAG	0.522																																							uc003wak.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(490-492)CCT>TCT		protease, serine, 1 preproprotein							321.0	312.0	315.0					7																	142460317		2203	4300	6503	SO:0001583	missense	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142460317C>T	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.490C>T	7.37:g.142460317C>T	ENSP00000308720:p.Pro164Ser					uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.P104S	p.P164S	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		4	507	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	164			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.490C>T	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189807	0.38707	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.89343	-2.5;-2.5;-2.5	3.28	3.28	0.37604	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.87700	0.6243	M	0.63428	1.95	0.58432	D	0.999996	P;P	0.43857	0.699;0.819	B;B	0.42386	0.377;0.386	D	0.89192	0.3551	10	0.59425	D	0.04	.	14.0086	0.64481	0.0:1.0:0.0:0.0	.	178;164	E7EQ64;P07477	.;TRY1_HUMAN	S	178;164;154;114	ENSP00000417854:P178S;ENSP00000308720:P164S;ENSP00000419912:P114S	ENSP00000308720:P164S	P	+	1	0	PRSS1	142139891	1.000000	0.71417	0.015000	0.15790	0.003000	0.03518	7.734000	0.84928	1.789000	0.52484	0.398000	0.26397	CCT		0.522	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			51	768	0	0	0	0.00361	0	51	768				
PRSS1	5644	broad.mit.edu	37	7	142460411	142460411	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:142460411C>T	ENST00000311737.7	+	4	590	c.584C>T	c.(583-585)tCa>tTa	p.S195L	PRSS1_ENST00000486171.1_Missense_Mutation_p.S209L	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	195	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.S195L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GGCAAGGATTCATGTCAGGTG	0.532																																							uc003wak.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(583-585)TCA>TTA		protease, serine, 1 preproprotein							162.0	157.0	159.0					7																	142460411		2203	4300	6503	SO:0001583	missense	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142460411C>T	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.584C>T	7.37:g.142460411C>T	ENSP00000308720:p.Ser195Leu					uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.S135L	p.S195L	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		4	601	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	195			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.584C>T	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240617	0.39598	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.93307	-3.2;-3.2	3.32	2.42	0.29668	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.048123	0.85682	D	0.000000	D	0.95230	0.8453	M	0.86028	2.79	0.43444	D	0.995624	P;P	0.51351	0.944;0.942	P;P	0.55391	0.681;0.775	D	0.94475	0.7688	10	0.87932	D	0	.	9.8308	0.40941	0.0:0.89:0.0:0.11	.	209;195	E7EQ64;P07477	.;TRY1_HUMAN	L	209;195;185	ENSP00000417854:S209L;ENSP00000308720:S195L	ENSP00000308720:S195L	S	+	2	0	PRSS1	142139985	1.000000	0.71417	0.987000	0.45799	0.023000	0.10783	7.709000	0.84645	0.680000	0.31366	-0.490000	0.04691	TCA		0.532	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			11	236	0	0	0	0.001855	0	11	236				
PIP	5304	broad.mit.edu	37	7	142829235	142829235	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:142829235G>T	ENST00000291009.3	+	1	66	c.26G>T	c.(25-27)aGg>aTg	p.R9M		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	9					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)	p.R9M(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CTCCTGTTCAGGGCCAGCCCT	0.557																																							uc003wcf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(25-27)AGG>ATG		prolactin-induced protein precursor							227.0	219.0	222.0					7																	142829235		2203	4299	6502	SO:0001583	missense	5304					extracellular region	actin binding	g.chr7:142829235G>T		CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.26G>T	7.37:g.142829235G>T	ENSP00000291009:p.Arg9Met						p.R9M	NM_002652	NP_002643	P12273	PIP_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)	1	62	+	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)	9					A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	ENST00000291009.3	37	c.26G>T	CCDS34768.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452096	0.43531	.	.	ENSG00000159763	ENST00000291009	.	.	.	4.65	1.81	0.25067	.	0.900059	0.09438	N	0.802207	T	0.56949	0.2020	M	0.65975	2.015	0.09310	N	1	D	0.76494	0.999	D	0.71870	0.975	T	0.38845	-0.9642	9	0.72032	D	0.01	.	4.7908	0.13248	0.1969:0.1778:0.6254:0.0	.	9	P12273	PIP_HUMAN	M	9	.	ENSP00000291009:R9M	R	+	2	0	PIP	142539357	0.001000	0.12720	0.012000	0.15200	0.067000	0.16453	0.536000	0.23129	0.269000	0.21961	-0.140000	0.14226	AGG		0.557	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652		99	656	1	0	1.13638e-54	0.00361	1.91831e-54	99	656				
TPK1	27010	broad.mit.edu	37	7	144245652	144245652	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:144245652C>A	ENST00000360057.3	-	8	647	c.545G>T	c.(544-546)tGg>tTg	p.W182L	TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.W128L|TPK1_ENST00000549981.1_Missense_Mutation_p.W65L|TPK1_ENST00000378099.3_Missense_Mutation_p.W133L	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	182					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)	p.W182L(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	AAGGCCACACCAATCACCCTC	0.438																																					Ovarian(45;88 1034 2073 5829 28455)	Ovarian(45;88 1034 2073 5829 28455)	uc003weq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(544-546)TGG>TTG		thiamin pyrophosphokinase 1 isoform a	Thiamine(DB00152)						208.0	171.0	183.0					7																	144245652		2203	4300	6503	SO:0001583	missense	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144245652C>A	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.545G>T	7.37:g.144245652C>A	ENSP00000353165:p.Trp182Leu					TPK1_uc003weo.2_Missense_Mutation_p.W128L|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.W133L|TPK1_uc003wes.2_RNA	p.W182L	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN			8	648	-			182					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	c.545G>T	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498199	0.64186	.	.	ENSG00000196511	ENST00000360057;ENST00000538212;ENST00000378099;ENST00000549981	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.95	5.95	0.96441	Thiamin pyrophosphokinase, vitamin B1-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.84710	0.5532	M	0.64630	1.985	0.58432	D	0.999992	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79784	0.957;0.991;0.993	T	0.79359	-0.1836	10	0.11794	T	0.64	-10.817	15.8749	0.79154	0.0:1.0:0.0:0.0	.	133;182;128	F5GZG6;Q9H3S4;Q6ZQX6	.;TPK1_HUMAN;.	L	182;128;133;65	ENSP00000353165:W182L;ENSP00000438813:W128L;ENSP00000367339:W133L;ENSP00000448698:W65L	ENSP00000353165:W182L	W	-	2	0	TPK1	143876585	1.000000	0.71417	0.998000	0.56505	0.291000	0.27294	5.315000	0.65810	2.817000	0.96982	0.563000	0.77884	TGG		0.438	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		12	85	1	0	5.50884e-06	0.001368	6.33193e-06	12	85				
CNTNAP2	26047	broad.mit.edu	37	7	147092811	147092811	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:147092811G>C	ENST00000361727.3	+	10	2125	c.1609G>C	c.(1609-1611)Gca>Cca	p.A537P		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	537	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.A537P(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)			ATACGAAGTGGCACAAAGGAA	0.438										HNSCC(39;0.1)																													uc003weu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1609-1611)GCA>CCA		cell recognition molecule Caspr2 precursor							171.0	156.0	161.0					7																	147092811		2203	4299	6502	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.chr7:147092811G>C	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.1609G>C	7.37:g.147092811G>C	ENSP00000354778:p.Ala537Pro	HNSCC(39;0.1)					p.A537P	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		10	2125	+	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)	537			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1609G>C	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984991	0.74474	.	.	ENSG00000174469	ENST00000361727	T	0.80909	-1.43	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.082401	0.46758	D	0.000268	T	0.67429	0.2892	N	0.08118	0	0.80722	D	1	P	0.34562	0.457	B	0.36335	0.222	T	0.69045	-0.5249	10	0.36615	T	0.2	.	17.4973	0.87722	0.0:0.0:1.0:0.0	.	537	Q9UHC6	CNTP2_HUMAN	P	537	ENSP00000354778:A537P	ENSP00000354778:A537P	A	+	1	0	CNTNAP2	146723744	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	9.321000	0.96353	2.475000	0.83589	0.591000	0.81541	GCA		0.438	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			27	214	0	0	0	0.007291	0	27	214				
CNTNAP2	26047	broad.mit.edu	37	7	147914500	147914500	+	Missense_Mutation	SNP	C	C	T	rs369724886		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:147914500C>T	ENST00000361727.3	+	19	3647	c.3131C>T	c.(3130-3132)cCg>cTg	p.P1044L	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P103L	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1044					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.P1044L(2)		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)			AACTCCCACCCGGACCTGGCA	0.562										HNSCC(39;0.1)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18094	0.0		0.0	False		,,,				2504	0.001						uc003weu.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(3130-3132)CCG>CTG		cell recognition molecule Caspr2 precursor		C	LEU/PRO	0,4406		0,0,2203	116.0	112.0	113.0		3131	3.4	0.0	7		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTNAP2	NM_014141.5	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1044/1332	147914500	1,13005	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.chr7:147914500C>T	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.3131C>T	7.37:g.147914500C>T	ENSP00000354778:p.Pro1044Leu	HNSCC(39;0.1)					p.P1044L	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		19	3647	+	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)	1044			Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.3131C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	4.676	0.125619	0.08931	0.0	1.16E-4	ENSG00000174469	ENST00000361727;ENST00000538075	D;T	0.88277	-2.36;2.78	5.25	3.39	0.38822	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.483859	0.22141	N	0.064051	T	0.75004	0.3791	N	0.24115	0.695	0.09310	N	1	P	0.39094	0.659	B	0.21708	0.036	T	0.62039	-0.6938	10	0.09590	T	0.72	.	13.0547	0.58973	0.3141:0.6859:0.0:0.0	.	1044	Q9UHC6	CNTP2_HUMAN	L	1044;103	ENSP00000354778:P1044L;ENSP00000440732:P103L	ENSP00000354778:P1044L	P	+	2	0	CNTNAP2	147545433	0.013000	0.17824	0.001000	0.08648	0.006000	0.05464	2.542000	0.45744	0.545000	0.28902	-0.397000	0.06425	CCG		0.562	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			32	219	0	0	0	0.002096	0	32	219				
GIMAP2	26157	broad.mit.edu	37	7	150389421	150389421	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:150389421A>C	ENST00000223293.5	+	3	141	c.47A>C	c.(46-48)cAa>cCa	p.Q16P		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	16						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)	p.Q16P(1)		kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAAAGGGCCAATGTGCCAGC	0.453																																							uc003who.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(46-48)CAA>CCA		GTPase, IMAP family member 2							58.0	47.0	50.0					7																	150389421		2203	4300	6503	SO:0001583	missense	26157					integral to membrane	GTP binding	g.chr7:150389421A>C	AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"""GTPases, IMAP"""	21789	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 12"""	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.47A>C	7.37:g.150389421A>C	ENSP00000223293:p.Gln16Pro					GIMAP1_uc003whp.2_Intron	p.Q16P	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	135	+			16					Q96L25	Missense_Mutation	SNP	ENST00000223293.5	37	c.47A>C	CCDS5905.1	.	.	.	.	.	.	.	.	.	.	A	7.458	0.644182	0.14451	.	.	ENSG00000106560	ENST00000223293	T	0.06528	3.29	3.1	-1.19	0.09585	.	0.531595	0.16323	N	0.219492	T	0.03390	0.0098	N	0.25245	0.725	0.09310	N	0.999997	B	0.18863	0.031	B	0.10450	0.005	T	0.39035	-0.9633	10	0.33141	T	0.24	.	3.0837	0.06271	0.5029:0.2262:0.2708:0.0	.	16	Q9UG22	GIMA2_HUMAN	P	16	ENSP00000223293:Q16P	ENSP00000223293:Q16P	Q	+	2	0	GIMAP2	150020354	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.174000	0.16743	-0.322000	0.08615	-0.250000	0.11733	CAA		0.453	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1	NM_015660		11	68	0	0	0	0.000978	0	11	68				
GIMAP1	170575	broad.mit.edu	37	7	150417236	150417236	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:150417236G>A	ENST00000307194.5	+	3	284	c.144G>A	c.(142-144)ctG>ctA	p.L48L		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	48	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)	p.L48L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACAGCATCCTGGGCCAGAGAC	0.647																																							uc003whq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(142-144)CTG>CTA		GTPase, IMAP family member 1							65.0	70.0	68.0					7																	150417236		2203	4300	6503	SO:0001819	synonymous_variant	170575					endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr7:150417236G>A	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.144G>A	7.37:g.150417236G>A						GIMAP1_uc003whp.2_Silent_p.L56L	p.L48L	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	231	+			48			Cytoplasmic (Potential).		B2RCI3|Q8NAZ0	Silent	SNP	ENST00000307194.5	37	c.144G>A	CCDS5906.1																																																																																				0.647	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		95	194	0	0	0	0.00361	0	95	194				
PTPRN2	5799	broad.mit.edu	37	7	157341681	157341681	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:157341681C>T	ENST00000389418.4	-	22	2944	c.2935G>A	c.(2935-2937)Gag>Aag	p.E979K	PTPRN2_ENST00000389413.3_Missense_Mutation_p.E950K|PTPRN2_ENST00000409483.1_Missense_Mutation_p.E941K|PTPRN2_ENST00000389416.4_Missense_Mutation_p.E962K|PTPRN2_ENST00000404321.2_Missense_Mutation_p.E1002K	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	979	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E979K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTCAAGTGCTCCAGGGTCGCT	0.547																																							uc003wno.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(2935-2937)GAG>AAG		protein tyrosine phosphatase, receptor type, N							151.0	129.0	137.0					7																	157341681		2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157341681C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2935G>A	7.37:g.157341681C>T	ENSP00000374069:p.Glu979Lys					PTPRN2_uc003wnp.2_Missense_Mutation_p.E962K|PTPRN2_uc003wnq.2_Missense_Mutation_p.E950K|PTPRN2_uc003wnr.2_Missense_Mutation_p.E941K|PTPRN2_uc011kwa.1_Missense_Mutation_p.E1002K|PTPRN2_uc003wnn.2_RNA	p.E979K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	22	3056	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	979			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.2935G>A	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186450	0.94885	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	5.06	5.06	0.68205	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	U	0.000000	D	0.86990	0.6066	L	0.31420	0.93	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	0.85130	0.997;0.997;0.995;0.996;0.996	D	0.88894	0.3348	10	0.87932	D	0	.	18.5011	0.90880	0.0:1.0:0.0:0.0	.	1002;941;950;962;979	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	K	941;950;962;979;1002	ENSP00000387114:E941K;ENSP00000374064:E950K;ENSP00000374067:E962K;ENSP00000374069:E979K;ENSP00000385464:E1002K	ENSP00000374064:E950K	E	-	1	0	PTPRN2	157034442	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.016000	0.76393	2.358000	0.79984	0.632000	0.83419	GAG		0.547	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			17	174	0	0	0	0.008871	0	17	174				
PTPRN2	5799	broad.mit.edu	37	7	157414103	157414103	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:157414103G>A	ENST00000389418.4	-	15	2304	c.2295C>T	c.(2293-2295)gcC>gcT	p.A765A	PTPRN2_ENST00000389413.3_Silent_p.A736A|PTPRN2_ENST00000409483.1_Silent_p.A727A|PTPRN2_ENST00000389416.4_Silent_p.A748A|PTPRN2_ENST00000404321.2_Silent_p.A788A	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	765	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A765A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCTCCCTCTGGGCCACGAACG	0.637																																							uc003wno.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(2293-2295)GCC>GCT		protein tyrosine phosphatase, receptor type, N							175.0	168.0	170.0					7																	157414103		2203	4300	6503	SO:0001819	synonymous_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157414103G>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2295C>T	7.37:g.157414103G>A						PTPRN2_uc003wnp.2_Silent_p.A748A|PTPRN2_uc003wnq.2_Silent_p.A736A|PTPRN2_uc003wnr.2_Silent_p.A727A|PTPRN2_uc011kwa.1_Silent_p.A788A	p.A765A	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	15	2416	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	765			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	c.2295C>T	CCDS5947.1																																																																																				0.637	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			90	495	0	0	0	0.00361	0	90	495				
PTPRN2	5799	broad.mit.edu	37	7	157691364	157691364	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:157691364C>A	ENST00000389418.4	-	12	1798		c.e12+1		PTPRN2_ENST00000389413.3_Splice_Site|PTPRN2_ENST00000409483.1_Splice_Site|PTPRN2_ENST00000389416.4_Splice_Site|PTPRN2_ENST00000404321.2_Splice_Site	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2						negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTGTTACTCACCGACCCGACT	0.507																																							uc003wno.2		NA																	1	Unknown(1)		lung(1)	ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.e12+1		protein tyrosine phosphatase, receptor type, N							177.0	180.0	179.0					7																	157691364		2203	4300	6503	SO:0001630	splice_region_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157691364C>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1788+1G>T	7.37:g.157691364C>A						PTPRN2_uc003wnp.2_Splice_Site_p.S579_splice|PTPRN2_uc003wnq.2_Splice_Site_p.S567_splice|PTPRN2_uc003wnr.2_Splice_Site_p.S558_splice|PTPRN2_uc011kwa.1_Splice_Site_p.S619_splice	p.S596_splice	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	12	1909	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)						E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Splice_Site	SNP	ENST00000389418.4	37	c.1788_splice	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551646	0.45487	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2186	0.86951	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRN2	157384125	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	4.795000	0.62489	2.491000	0.84063	0.655000	0.94253	.		0.507	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		Intron	114	262	1	0	3.21225e-43	0.00361	5.37204e-43	114	262				
PTPRN2	5799	broad.mit.edu	37	7	157985049	157985049	+	Silent	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:157985049G>C	ENST00000389418.4	-	5	528	c.519C>G	c.(517-519)acC>acG	p.T173T	PTPRN2_ENST00000389413.3_Silent_p.T173T|PTPRN2_ENST00000409483.1_Silent_p.T135T|PTPRN2_ENST00000389416.4_Silent_p.T156T|PTPRN2_ENST00000404321.2_Silent_p.T196T	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	173					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T173T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCGCCGTATGGGTCCTGGCGA	0.692																																							uc003wno.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(517-519)ACC>ACG		protein tyrosine phosphatase, receptor type, N							38.0	44.0	42.0					7																	157985049		2203	4299	6502	SO:0001819	synonymous_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157985049G>C	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.519C>G	7.37:g.157985049G>C						PTPRN2_uc003wnp.2_Silent_p.T156T|PTPRN2_uc003wnq.2_Silent_p.T173T|PTPRN2_uc003wnr.2_Silent_p.T135T|PTPRN2_uc011kwa.1_Silent_p.T196T	p.T173T	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	5	640	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	173			Extracellular (Potential).		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	c.519C>G	CCDS5947.1																																																																																				0.692	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			28	55	0	0	0	0.003755	0	28	55				
WDR60	55112	broad.mit.edu	37	7	158716322	158716323	+	Missense_Mutation	DNP	GG	GG	CT	rs200093028		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:158716322_158716323GG>CT	ENST00000407559.3	+	17	2313_2314	c.2155_2156GG>CT	c.(2155-2157)GGc>CTc	p.G719L		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	719					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G719L(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AACAGCGCACGGCTCAGTTGTC	0.505																																							uc003woe.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(2155-2157)GGC>CTC		WD repeat domain 60																																				SO:0001583	missense	55112							g.chr7:158716322_158716323GG>CT		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	Exception_encountered	7.37:g.158716322_158716323delinsCT	ENSP00000384290:p.Gly719Leu					WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Missense_Mutation_p.G351L	p.G719L	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	17	2313_2314	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	719			WD 1.		Q9NW58	Missense_Mutation	DNP	ENST00000407559.3	37	c.2155_2156GG>CT	CCDS47757.1																																																																																				0.505	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		74	159	0	0	0	0.004672	0	74	159				
RP1L1	94137	broad.mit.edu	37	8	10473975	10473976	+	Missense_Mutation	DNP	CA	CA	AG	rs372793599		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:10473975_10473976CA>AG	ENST00000382483.3	-	3	954_955	c.731_732TG>CT	c.(730-732)cTG>cCT	p.L244P		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	244					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.L244P(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCTTGAAGTCAGCCCAGATAA	0.525																																							uc003wtc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(730-732)CTG>CCT		retinitis pigmentosa 1-like 1																																				SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10473975_10473976CA>AG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.731_732delinsAG	8.37:g.10473975_10473976delinsAG	ENSP00000371923:p.Leu244Pro						p.L244P	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	3	960_961	-			244					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	DNP	ENST00000382483.3	37	c.731_732TG>CT	CCDS43708.1																																																																																				0.525	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			16	55	0	0	0	0.004672	0	16	55				
USP17L2	377630	broad.mit.edu	37	8	11995480	11995480	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:11995480A>T	ENST00000333796.3	-	1	1106	c.790T>A	c.(790-792)Tcc>Acc	p.S264T	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	264	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S264T(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						AACGTCTTGGAGGCCGGCGCC	0.483																																							uc003wvc.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)	3						c.(790-792)TCC>ACC		deubiquitinating enzyme 3							23.0	27.0	26.0					8																	11995480		1110	2606	3716	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995480A>T	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.790T>A	8.37:g.11995480A>T	ENSP00000333329:p.Ser264Thr					FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	p.S264T	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN			1	790	-			264						Missense_Mutation	SNP	ENST00000333796.3	37	c.790T>A	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	A	8.832	0.940205	0.18281	.	.	ENSG00000223443	ENST00000333796	T	0.04917	3.53	0.745	-1.46	0.08800	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.285274	0.28538	N	0.014996	T	0.02767	0.0083	N	0.05050	-0.12	0.09310	N	1	B	0.24963	0.115	B	0.33960	0.173	T	0.37337	-0.9710	10	0.40728	T	0.16	.	2.5238	0.04686	0.5524:0.0:0.0:0.4476	.	264	Q6R6M4	U17L2_HUMAN	T	264	ENSP00000333329:S264T	ENSP00000333329:S264T	S	-	1	0	USP17L2	12032889	0.089000	0.21612	0.018000	0.16275	0.014000	0.08584	-0.546000	0.06062	-0.328000	0.08539	0.386000	0.25728	TCC		0.483	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		11	145	0	0	0	0.00245	0	11	145				
SORBS3	10174	broad.mit.edu	37	8	22429318	22429318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:22429318C>T	ENST00000240123.7	+	19	2214	c.1831C>T	c.(1831-1833)Cag>Tag	p.Q611*	SORBS3_ENST00000428103.1_Nonsense_Mutation_p.Q269*	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	611					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.Q611*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TAACACCTCTCAGATACACTG	0.607																																							uc003xbv.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1831-1833)CAG>TAG		sorbin and SH3 domain containing 3 isoform 1							97.0	84.0	88.0					8																	22429318		2203	4300	6503	SO:0001587	stop_gained	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22429318C>T		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.1831C>T	8.37:g.22429318C>T	ENSP00000240123:p.Gln611*					SORBS3_uc003xbw.3_Nonsense_Mutation_p.Q269*	p.Q611*	NM_005775	NP_005766	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	19	2171	+		Prostate(55;0.0421)|Breast(100;0.102)	611					Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Nonsense_Mutation	SNP	ENST00000240123.7	37	c.1831C>T	CCDS6031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.30|16.30	3.085142|3.085142	0.55861|0.55861	.|.	.|.	ENSG00000120896|ENSG00000120896	ENST00000240123;ENST00000428103;ENST00000523348|ENST00000521554	.|T	.|0.13307	.|2.6	5.69|5.69	1.47|1.47	0.22746|0.22746	.|.	0.825553|.	0.10380|.	N|.	0.681658|.	.|T	.|0.14270	.|0.0345	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.21314	.|-1.0249	.|4	0.45353|.	T|.	0.12|.	-11.8368|-11.8368	8.7948|8.7948	0.34872|0.34872	0.1645:0.3824:0.453:0.0|0.1645:0.3824:0.453:0.0	.|.	.|.	.|.	.|.	X|L	611;269;222|282	.|ENSP00000429058:S282L	ENSP00000240123:Q611X|.	Q|S	+|+	1|2	0|0	SORBS3|SORBS3	22485263|22485263	0.001000|0.001000	0.12720|0.12720	0.686000|0.686000	0.30086|0.30086	0.603000|0.603000	0.37013|0.37013	0.124000|0.124000	0.15728|0.15728	0.710000|0.710000	0.31997|0.31997	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.607	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		9	56	0	0	0	0.008291	0	9	56				
ADAM28	10863	broad.mit.edu	37	8	24193068	24193068	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:24193068G>T	ENST00000265769.4	+	14	1591	c.1481G>T	c.(1480-1482)gGc>gTc	p.G494V	ADAM28_ENST00000397649.3_Missense_Mutation_p.G241V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.G494V|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.G261V	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	494	Cys-rich.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G494V(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAAGTCAATGGCTTCCCTTGC	0.527																																					NSCLC(193;488 2149 22258 34798 40734)	NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|lung(1)|central_nervous_system(1)	5						c.(1480-1482)GGC>GTC		ADAM metallopeptidase domain 28 isoform 1							122.0	110.0	114.0					8																	24193068		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24193068G>T	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1481G>T	8.37:g.24193068G>T	ENSP00000265769:p.Gly494Val					ADAM28_uc003xdx.2_Missense_Mutation_p.G494V|ADAM28_uc011kzz.1_Missense_Mutation_p.G261V|ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Missense_Mutation_p.G181V	p.G494V	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	14	1564	+		Prostate(55;0.0959)	494			Extracellular (Potential).|Cys-rich.		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.1481G>T	CCDS34865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.19|18.19	3.569223|3.569223	0.65765|0.65765	.|.	.|.	ENSG00000042980|ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154|ENST00000521629	T;T;T;T|.	0.39787|.	1.06;1.06;1.06;1.06|.	5.8|5.8	5.8|5.8	0.92144|0.92144	ADAM, cysteine-rich (2);|.	.|.	.|.	.|.	.|.	D|D	0.88709|0.88709	0.6510|0.6510	H|H	0.97587|0.97587	4.035|4.035	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.92165|0.92165	0.5739|0.5739	9|5	0.87932|.	D|.	0|.	.|.	17.5525|17.5525	0.87880|0.87880	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	261;494;494;494|.	B4DDY3;B2RMV5;Q9UKQ2;Q9UKQ2-2|.	.;.;ADA28_HUMAN;.|.	V|C	494;241;261;494|126	ENSP00000265769:G494V;ENSP00000380770:G241V;ENSP00000443743:G261V;ENSP00000393699:G494V|.	ENSP00000265769:G494V|.	G|W	+|+	2|3	0|0	ADAM28|ADAM28	24249013|24249013	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.333000|0.333000	0.28666|0.28666	8.383000|8.383000	0.90157|0.90157	2.741000|2.741000	0.93983|0.93983	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.527	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		13	29	1	0	2.27111e-07	0.001368	2.75139e-07	13	29				
PPP2R2A	5520	broad.mit.edu	37	8	26212038	26212038	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:26212038A>G	ENST00000380737.3	+	4	564	c.235A>G	c.(235-237)Agc>Ggc	p.S79G	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.S89G	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	79					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.S79G(1)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		CACCTTCCAGAGCCATGAACC	0.323																																							uc003xeu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(235-237)AGC>GGC		alpha isoform of regulatory subunit B55, protein							95.0	97.0	96.0					8																	26212038		2203	4300	6503	SO:0001583	missense	5520				protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chr8:26212038A>G	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.235A>G	8.37:g.26212038A>G	ENSP00000370113:p.Ser79Gly					PPP2R2A_uc003xek.2_Intron|PPP2R2A_uc011laf.1_Missense_Mutation_p.S89G	p.S79G	NM_002717	NP_002708	P63151	2ABA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	4	537	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)	79					B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.235A>G	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.019351	0.93462	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.27720	1.65;1.65	5.98	5.98	0.97165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.57403	0.2051	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.957;0.995	T	0.61118	-0.7127	10	0.87932	D	0	-12.7173	16.4622	0.84064	1.0:0.0:0.0:0.0	.	89;79	B4E1T7;P63151	.;2ABA_HUMAN	G	79;89	ENSP00000370113:S79G;ENSP00000325074:S89G	ENSP00000325074:S89G	S	+	1	0	PPP2R2A	26267955	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.289000	0.77006	0.533000	0.62120	AGC		0.323	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		14	105	0	0	0	0.004007	0	14	105				
INTS9	55756	broad.mit.edu	37	8	28654167	28654167	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:28654167C>T	ENST00000521022.1	-	9	831	c.750G>A	c.(748-750)atG>atA	p.M250I	INTS9_ENST00000397363.4_Missense_Mutation_p.M144I|INTS9_ENST00000521777.1_Missense_Mutation_p.M226I|RP11-662B19.2_ENST00000520055.1_RNA|INTS9_ENST00000416984.2_Missense_Mutation_p.M229I	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	250					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)		p.M250I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		AAGCTTGGTCCATGGGCTGAA	0.418																																							uc003xha.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(748-750)ATG>ATA		integrator complex subunit 9 isoform 1							109.0	99.0	103.0					8																	28654167		2203	4300	6503	SO:0001583	missense	55756				snRNA processing	integrator complex	protein binding	g.chr8:28654167C>T	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.750G>A	8.37:g.28654167C>T	ENSP00000429065:p.Met250Ile					INTS9_uc011lav.1_Missense_Mutation_p.M226I|INTS9_uc011law.1_Missense_Mutation_p.M229I|INTS9_uc011lax.1_Missense_Mutation_p.M143I|INTS9_uc010lvc.2_RNA|INTS9_uc003xhb.2_Missense_Mutation_p.M250I	p.M250I	NM_018250	NP_060720	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	9	1049	-		Ovarian(32;0.0439)	250					B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	c.750G>A	CCDS34873.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.27|10.27	1.304229|1.304229	0.23736|0.23736	.|.	.|.	ENSG00000104299|ENSG00000104299	ENST00000524081|ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363;ENST00000523436	.|T;T;T;T;T	.|0.41400	.|1.0;1.0;1.0;1.02;1.05	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.32585|0.32585	0.0834|0.0834	N|N	0.25201|0.25201	0.72|0.72	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.20887	.|0.049;0.036;0.041	.|B;B;B	.|0.28011	.|0.085;0.051;0.074	T|T	0.09640|0.09640	-1.0665|-1.0665	5|10	.|0.15066	.|T	.|0.55	-35.6286|-35.6286	17.3315|17.3315	0.87265|0.87265	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|229;250;250	.|B7Z6M5;G3XAN1;Q9NV88	.|.;.;INT9_HUMAN	R|I	213|250;229;94;226;144;205	.|ENSP00000429065:M250I;ENSP00000398208:M229I;ENSP00000430943:M226I;ENSP00000380520:M144I;ENSP00000427789:M205I	.|ENSP00000380520:M144I	G|M	-|-	1|3	0|0	INTS9|INTS9	28710086|28710086	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.574000|7.574000	0.82434|0.82434	2.516000|2.516000	0.84829|0.84829	0.591000|0.591000	0.81541|0.81541	GGA|ATG		0.418	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		7	44	0	0	0	0.004482	0	7	44				
FGFR1	2260	broad.mit.edu	37	8	38272335	38272335	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:38272335C>T	ENST00000447712.2	-	14	2880	c.1939G>A	c.(1939-1941)Gac>Aac	p.D647N	FGFR1_ENST00000335922.5_Missense_Mutation_p.D637N|FGFR1_ENST00000397113.2_Missense_Mutation_p.D645N|FGFR1_ENST00000397103.1_Missense_Mutation_p.D558N|FGFR1_ENST00000326324.6_Missense_Mutation_p.D556N|FGFR1_ENST00000532791.1_Missense_Mutation_p.D645N|FGFR1_ENST00000397108.4_Missense_Mutation_p.D645N|FGFR1_ENST00000425967.3_Missense_Mutation_p.D678N|FGFR1_ENST00000341462.5_Missense_Mutation_p.D647N|FGFR1_ENST00000397091.5_Missense_Mutation_p.D645N|FGFR1_ENST00000356207.5_Missense_Mutation_p.D558N	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	647	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|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 MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.D647N(3)|p.D637N(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGGTGAATGTCCCGTGCGAGG	0.537		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	Melanoma(146;1153 1840 21453 21841 43625)	uc003xlp.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	Pfeiffer syndrome|Kallman syndrome	L	BCR|FOP|ZNF198|CEP1		MPD|NHL		4	Substitution - Missense(4)		lung(4)	lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15						c.(1939-1941)GAC>AAC		fibroblast growth factor receptor 1 isoform 1	Palifermin(DB00039)						126.0	132.0	130.0					8																	38272335		2137	4275	6412	SO:0001583	missense	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38272335C>T	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1939G>A	8.37:g.38272335C>T	ENSP00000400162:p.Asp647Asn					FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.D645N|FGFR1_uc011lbp.1_Missense_Mutation_p.D558N|FGFR1_uc011lbq.1_Missense_Mutation_p.D556N|FGFR1_uc010lwk.2_Missense_Mutation_p.D637N	p.D647N	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		15	2881	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	647			Cytoplasmic (Potential).|Protein kinase.		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.1939G>A	CCDS6107.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.940208|5.940208	0.97128|0.97128	.|.	.|.	ENSG00000077782|ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108|ENST00000310729	D;D;D;D;D;D;D;D;D;D;D|.	0.83419|.	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72|.	5.9|5.9	5.9|5.9	0.94986|0.94986	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70307|0.70307	0.3209|0.3209	L|L	0.39147|0.39147	1.195|1.195	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.999;0.996;0.999;0.999;0.999|.	T|T	0.70949|0.70949	-0.4733|-0.4733	10|6	0.62326|0.87932	D|D	0.03|0	.|.	20.2704|20.2704	0.98474|0.98474	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	556;556;647;637;645|.	P11362-14;P11362-4;P11362;P11362-20;P11362-2|.	.;.;FGFR1_HUMAN;.;.|.	N|E	645;678;647;647;645;645;558;637;556;558;645|655	ENSP00000380280:D645N;ENSP00000393312:D678N;ENSP00000400162:D647N;ENSP00000340636:D647N;ENSP00000432972:D645N;ENSP00000380302:D645N;ENSP00000348537:D558N;ENSP00000337247:D637N;ENSP00000327229:D556N;ENSP00000380292:D558N;ENSP00000380297:D645N|.	ENSP00000327229:D556N|ENSP00000311337:G655E	D|G	-|-	1|2	0|0	FGFR1|FGFR1	38391492|38391492	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.977000|0.977000	0.68977|0.68977	7.818000|7.818000	0.86416|0.86416	2.793000|2.793000	0.96121|0.96121	0.591000|0.591000	0.81541|0.81541	GAC|GGA		0.537	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				25	190	0	0	0	0.00632	0	25	190				
ADAM2	2515	broad.mit.edu	37	8	39624743	39624743	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:39624743A>T	ENST00000265708.4	-	13	1343	c.1240T>A	c.(1240-1242)Tgt>Agt	p.C414S	ADAM2_ENST00000347580.4_Missense_Mutation_p.C395S|ADAM2_ENST00000521880.1_Missense_Mutation_p.C414S|ADAM2_ENST00000379853.2_Missense_Mutation_p.C288S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	414	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C414S(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GCAATATCACAGCATGTTTCT	0.373																																							uc003xnj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1240-1242)TGT>AGT		ADAM metallopeptidase domain 2 proprotein							163.0	155.0	158.0					8																	39624743		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39624743A>T	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1240T>A	8.37:g.39624743A>T	ENSP00000265708:p.Cys414Ser					ADAM2_uc003xnk.2_Missense_Mutation_p.C395S|ADAM2_uc011lck.1_Missense_Mutation_p.C414S|ADAM2_uc003xnl.2_Missense_Mutation_p.C288S	p.C414S	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	13	1315	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	414			Extracellular (Potential).|Disintegrin.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1240T>A	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.542541	0.65198	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	4.82	3.64	0.41730	Blood coagulation inhibitor, Disintegrin (5);	.	.	.	.	T	0.61788	0.2375	H	0.97540	4.025	0.31549	N	0.658926	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.985;1.0;1.0	T	0.70135	-0.4955	8	.	.	.	.	7.5109	0.27573	0.8959:0.0:0.1041:0.0	.	414;288;395;414	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	S	395;288;414;414	ENSP00000343854:C395S;ENSP00000369182:C288S;ENSP00000265708:C414S;ENSP00000429352:C414S	.	C	-	1	0	ADAM2	39743900	1.000000	0.71417	0.888000	0.34837	0.012000	0.07955	5.118000	0.64673	1.932000	0.55993	0.533000	0.62120	TGT		0.373	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		52	194	0	0	0	0.00361	0	52	194				
PXDNL	137902	broad.mit.edu	37	8	52384753	52384753	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:52384753T>G	ENST00000356297.4	-	8	906	c.806A>C	c.(805-807)cAc>cCc	p.H269P	PXDNL_ENST00000543296.1_Missense_Mutation_p.H269P	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	269	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.H269P(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTACTTGTTGTGTATCCAAAT	0.413																																							uc003xqu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(805-807)CAC>CCC		peroxidasin homolog-like precursor							170.0	165.0	166.0					8																	52384753		1892	4110	6002	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52384753T>G		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.806A>C	8.37:g.52384753T>G	ENSP00000348645:p.His269Pro						p.H269P	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			8	907	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	269			Ig-like C2-type 1.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.806A>C	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	T	11.09	1.536813	0.27475	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.39787	1.06;1.06	3.98	1.55	0.23275	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45816	0.1361	L	0.49571	1.57	0.24952	N	0.991781	P	0.51057	0.941	P	0.54210	0.745	T	0.29971	-0.9994	9	0.59425	D	0.04	.	6.0674	0.19871	0.0:0.3366:0.0:0.6634	.	269	A1KZ92	PXDNL_HUMAN	P	269	ENSP00000348645:H269P;ENSP00000444865:H269P	ENSP00000348645:H269P	H	-	2	0	PXDNL	52547306	1.000000	0.71417	0.630000	0.29268	0.045000	0.14185	2.116000	0.41930	0.044000	0.15775	-0.361000	0.07541	CAC		0.413	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		17	128	0	0	0	0.008871	0	17	128				
PCMTD1	115294	broad.mit.edu	37	8	52733173	52733173	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:52733173C>A	ENST00000360540.5	-	7	1218	c.812G>T	c.(811-813)aGg>aTg	p.R271M	PCMTD1_ENST00000522514.1_Missense_Mutation_p.R271M|PCMTD1_ENST00000544451.1_Missense_Mutation_p.R195M|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	271						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.R271M(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGGTGGAGCCCTTTGAGGAAT	0.423																																							uc003xqx.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(811-813)AGG>ATG		protein-L-isoaspartate (D-aspartate)							122.0	128.0	126.0					8																	52733173		2203	4298	6501	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733173C>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.812G>T	8.37:g.52733173C>A	ENSP00000353739:p.Arg271Met					PCMTD1_uc011ldm.1_Missense_Mutation_p.R141M|PCMTD1_uc003xqw.3_Missense_Mutation_p.R271M|PCMTD1_uc011ldn.1_Missense_Mutation_p.R83M|PCMTD1_uc010lya.2_Missense_Mutation_p.R195M	p.R271M	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			6	1153	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	271					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.812G>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337908	0.60963	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.43294	0.95;0.95;0.95	5.77	4.89	0.63831	.	0.046526	0.85682	D	0.000000	T	0.54240	0.1846	M	0.61703	1.905	0.42707	D	0.993631	D;D;P	0.71674	0.994;0.998;0.882	P;D;P	0.63113	0.733;0.911;0.576	T	0.56098	-0.8035	10	0.59425	D	0.04	-23.8708	7.8639	0.29526	0.0:0.7539:0.0:0.2461	.	141;195;271	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	M	271;195;271	ENSP00000353739:R271M;ENSP00000444026:R195M;ENSP00000428099:R271M	ENSP00000353739:R271M	R	-	2	0	PCMTD1	52895726	0.964000	0.33143	0.710000	0.30468	0.995000	0.86356	2.798000	0.47884	2.722000	0.93159	0.655000	0.94253	AGG		0.423	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		7	199	1	0	1.08611e-07	0.000978	1.33076e-07	7	199				
DNAJC5B	85479	broad.mit.edu	37	8	66989047	66989048	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:66989047_66989048CC>AA	ENST00000276570.5	+	4	559_560	c.272_273CC>AA	c.(271-273)gCC>gAA	p.A91E	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	91						membrane (GO:0016020)		p.A91E(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CTCTACGTGGCCGAGCAGTTTG	0.45																																							uc003xvs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(271-273)GCC>GAA		DnaJ (Hsp40) homolog, subfamily C, member 5																																				SO:0001583	missense	85479				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr8:66989047_66989048CC>AA	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	Exception_encountered	8.37:g.66989047_66989048delinsAA	ENSP00000276570:p.Ala91Glu					DNAJC5B_uc003xvt.1_RNA	p.A91E	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		4	563_564	+		Lung NSC(129;0.114)|all_lung(136;0.188)	91					Q969Y8	Missense_Mutation	DNP	ENST00000276570.5	37	c.272_273CC>AA	CCDS6183.1																																																																																				0.450	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105		45	152	0	0	0	0.004672	0	45	152				
CPA6	57094	broad.mit.edu	37	8	68346330	68346330	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:68346330C>A	ENST00000297770.4	-	9	1199	c.984G>T	c.(982-984)caG>caT	p.Q328H	CPA6_ENST00000297769.4_Intron	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	328						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Q328H(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ACAGTAACATCTGAGCATATG	0.413																																							uc003xxq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(982-984)CAG>CAT		carboxypeptidase A6 isoform 1 precursor							197.0	179.0	185.0					8																	68346330		2203	4300	6503	SO:0001583	missense	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68346330C>A	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.984G>T	8.37:g.68346330C>A	ENSP00000297770:p.Gln328His					CPA6_uc003xxr.3_Intron	p.Q328H	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		9	1240	-			328					Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	c.984G>T	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828746	0.71258	.	.	ENSG00000165078	ENST00000297770	T	0.34472	1.36	5.47	4.59	0.56863	Peptidase M14, carboxypeptidase A (4);	0.055539	0.85682	D	0.000000	T	0.71375	0.3332	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81705	-0.0811	10	0.87932	D	0	.	14.3073	0.66393	0.0:0.9285:0.0:0.0715	.	328	Q8N4T0	CBPA6_HUMAN	H	328	ENSP00000297770:Q328H	ENSP00000297770:Q328H	Q	-	3	2	CPA6	68508884	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.245000	0.43133	1.436000	0.47453	0.655000	0.94253	CAG		0.413	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		17	188	1	0	7.07596e-05	0.006122	7.88904e-05	17	188				
Unknown	0	broad.mit.edu	37	8	73150379	73150379	+	IGR	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:73150379G>T								RP11-142A23.1 (35875 upstream) : RNA5SP271 (119583 downstream)																							GAGAGGGCTGGCTTTCCCGTT	0.418																																							uc010lzg.2		NA																	0					NA						c.(328-330)GCC>GAC		Homo sapiens cDNA, FLJ99767.																																				SO:0001628	intergenic_variant	0							g.chr8:73150379G>T																													8.37:g.73150379G>T							p.A110D							7	865	-									Missense_Mutation	SNP		37	c.329C>A																																																																																				0	0.418									13	58	1	0	4.3838e-07	0.001855	5.25178e-07	13	58				
CRISPLD1	83690	broad.mit.edu	37	8	75944444	75944444	+	Silent	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:75944444A>T	ENST00000262207.4	+	15	1938	c.1470A>T	c.(1468-1470)ggA>ggT	p.G490G	RP11-300E4.2_ENST00000520778.1_RNA|CRISPLD1_ENST00000523524.1_Silent_p.G302G|CRISPLD1_ENST00000517786.1_Silent_p.G304G	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	490	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.G490G(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			ATCCTCCAGGAGGAAAGGCAT	0.308																																							uc003yan.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1468-1470)GGA>GGT		cysteine-rich secretory protein LCCL domain							89.0	92.0	91.0					8																	75944444		2203	4300	6503	SO:0001819	synonymous_variant	83690					extracellular region		g.chr8:75944444A>T	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1470A>T	8.37:g.75944444A>T						CRISPLD1_uc011lfk.1_Silent_p.G302G|CRISPLD1_uc011lfl.1_Silent_p.G302G	p.G490G	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		15	1845	+	Breast(64;0.0799)		490			LCCL 2.		B2RA60|B7Z929	Silent	SNP	ENST00000262207.4	37	c.1470A>T	CCDS6219.1																																																																																				0.308	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		5	145	0	0	0	0.001984	0	5	145				
ZFHX4	79776	broad.mit.edu	37	8	77764324	77764324	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:77764324C>A	ENST00000521891.2	+	10	5615	c.5167C>A	c.(5167-5169)Cct>Act	p.P1723T	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1678T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1697T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1678T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1678	Gln-rich.				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.P1723T(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)			GCCTCATTTTCCTATGACCCC	0.473										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(5032-5034)CCT>ACT		zinc finger homeodomain 4							95.0	91.0	92.0					8																	77764324		1994	4187	6181	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764324C>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.5167C>A	8.37:g.77764324C>A	ENSP00000430497:p.Pro1723Thr	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.P1723T|ZFHX4_uc003yaw.1_Missense_Mutation_p.P1678T	p.P1678T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5419	+			1678			Gln-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.5032C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753185	0.49362	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.58652	0.32;0.39;0.36;0.35	4.48	4.48	0.54585	.	0.000000	0.44285	U	0.000478	T	0.75459	0.3852	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.998	T	0.78643	-0.2124	10	0.66056	D	0.02	.	17.7137	0.88330	0.0:1.0:0.0:0.0	.	1678;1678;1723	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	T	1723;1723;1678;1678;1697	ENSP00000430497:P1723T;ENSP00000399605:P1678T;ENSP00000050961:P1678T;ENSP00000430848:P1697T	ENSP00000050961:P1678T	P	+	1	0	ZFHX4	77926879	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.541000	0.82084	2.486000	0.83907	0.637000	0.83480	CCT		0.473	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		27	137	1	0	2.79863e-10	0.004656	3.64465e-10	27	137				
TPD52	7163	broad.mit.edu	37	8	80976781	80976781	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:80976781C>A	ENST00000379097.3	-	2	549	c.187G>T	c.(187-189)Gcc>Tcc	p.A63S	TPD52_ENST00000517427.1_Missense_Mutation_p.A63S|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000448733.2_Missense_Mutation_p.A63S|TPD52_ENST00000518937.1_Missense_Mutation_p.A23S|TPD52_ENST00000520527.1_Missense_Mutation_p.A63S|TPD52_ENST00000379096.5_Missense_Mutation_p.A23S|TPD52_ENST00000537855.1_Missense_Mutation_p.A63S	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	63					anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A23S(1)|p.A63S(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			CTGATCGTGGCAGCAACATCT	0.438																																							uc003ybr.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(187-189)GCC>TCC		tumor protein D52 isoform 1							177.0	164.0	169.0					8																	80976781		2203	4300	6503	SO:0001583	missense	7163				anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr8:80976781C>A	U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.187G>T	8.37:g.80976781C>A	ENSP00000368391:p.Ala63Ser					TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_RNA|TPD52_uc003ybs.1_Missense_Mutation_p.A23S|TPD52_uc003ybt.1_Missense_Mutation_p.A23S|TPD52_uc003ybq.1_RNA|TPD52_uc003ybu.1_RNA	p.A63S	NM_001025252	NP_001020423	P55327	TPD52_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		2	509	-	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	63			Potential.		B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Missense_Mutation	SNP	ENST00000379097.3	37	c.187G>T	CCDS34912.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899971	0.72754	.	.	ENSG00000076554	ENST00000537855;ENST00000379096;ENST00000518937;ENST00000520527;ENST00000517427;ENST00000448733;ENST00000543691;ENST00000379097;ENST00000425513	T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95	4.96	4.07	0.47477	.	0.348186	0.34133	N	0.004232	T	0.25827	0.0629	L	0.46157	1.445	0.32617	N	0.523886	B;B;P	0.39376	0.359;0.177;0.67	B;B;P	0.46796	0.157;0.411;0.527	T	0.26573	-1.0099	10	0.27785	T	0.31	-11.0266	11.8487	0.52399	0.0:0.9167:0.0:0.0833	.	23;23;63	P55327-2;E5RKB4;P55327	.;.;TPD52_HUMAN	S	63;23;23;63;63;63;63;63;23	ENSP00000438113:A63S;ENSP00000368390:A23S;ENSP00000429915:A23S;ENSP00000429309:A63S;ENSP00000429351:A63S;ENSP00000410222:A63S;ENSP00000368391:A63S	ENSP00000368390:A23S	A	-	1	0	TPD52	81139336	0.987000	0.35691	0.113000	0.21522	0.936000	0.57629	2.877000	0.48506	1.291000	0.44653	0.591000	0.81541	GCC		0.438	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079		36	499	1	0	2.26627e-22	0.007835	3.55281e-22	36	499				
E2F5	1875	broad.mit.edu	37	8	86124414	86124414	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:86124414C>T	ENST00000416274.2	+	7	940	c.906C>T	c.(904-906)atC>atT	p.I302I	E2F5_ENST00000521429.1_Silent_p.I129I|E2F5_ENST00000256117.5_Silent_p.I303I|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000418930.2_Silent_p.I301I|E2F5_ENST00000517476.1_Silent_p.I141I	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	302	Transactivation. {ECO:0000255}.				gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.I302I(1)		NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GTGGAGATATCATTGATGAGT	0.299																																							uc003ycz.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(904-906)ATC>ATT		E2F transcription factor 5 isoform 1							97.0	94.0	95.0					8																	86124414		1832	4086	5918	SO:0001819	synonymous_variant	1875				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr8:86124414C>T	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.906C>T	8.37:g.86124414C>T						E2F5_uc003yda.3_Silent_p.I301I|E2F5_uc010mab.2_Silent_p.I141I|E2F5_uc003ydb.3_Silent_p.I121I|uc003ydc.1_5'Flank	p.I302I	NM_001951	NP_001942	Q15329	E2F5_HUMAN			7	943	+			302			Transactivation (Potential).		E9PBN9|Q16601|Q92756	Silent	SNP	ENST00000416274.2	37	c.906C>T	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	C	9.367	1.069604	0.20147	.	.	ENSG00000133740	ENST00000520225	.	.	.	5.28	4.4	0.53042	.	.	.	.	.	T	0.55893	0.1949	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53180	-0.8475	4	.	.	.	-12.7953	6.3742	0.21499	0.0:0.6816:0.0:0.3184	.	.	.	.	Y	74	.	.	H	+	1	0	E2F5	86311666	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	0.533000	0.23082	1.208000	0.43306	0.591000	0.81541	CAT		0.299	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		6	54	0	0	0	0.001168	0	6	54				
CA13	377677	broad.mit.edu	37	8	86171659	86171659	+	Missense_Mutation	SNP	G	G	T	rs151178960	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:86171659G>T	ENST00000321764.3	+	3	547	c.245G>T	c.(244-246)gGt>gTt	p.G82V	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	82					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.G82V(1)		large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	GTTCTGCGTGGTGGTCCTCTC	0.453																																							uc003ydg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(244-246)GGT>GTT		carbonic anhydrase XIII							119.0	108.0	112.0					8																	86171659		2203	4300	6503	SO:0001583	missense	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86171659G>T	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"""Carbonic anhydrases"""	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.245G>T	8.37:g.86171659G>T	ENSP00000318912:p.Gly82Val					CA13_uc003ydf.1_RNA	p.G82V	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN			3	587	+			82						Missense_Mutation	SNP	ENST00000321764.3	37	c.245G>T	CCDS6236.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775656	0.70107	.	.	ENSG00000185015	ENST00000321764	T	0.75154	-0.91	6.17	6.17	0.99709	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.044895	0.85682	D	0.000000	D	0.91831	0.7415	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93275	0.6655	10	0.87932	D	0	-20.4411	20.8794	0.99867	0.0:0.0:1.0:0.0	.	82	Q8N1Q1	CAH13_HUMAN	V	82	ENSP00000318912:G82V	ENSP00000318912:G82V	G	+	2	0	CA13	86358911	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	6.236000	0.72339	2.941000	0.99782	0.655000	0.94253	GGT		0.453	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		14	207	1	0	1.40151e-16	0.010504	2.05924e-16	14	207				
SLC7A13	157724	broad.mit.edu	37	8	87229801	87229801	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:87229801C>A	ENST00000297524.3	-	3	1180	c.1077G>T	c.(1075-1077)ttG>ttT	p.L359F	SLC7A13_ENST00000419776.2_Missense_Mutation_p.L350F|SLC7A13_ENST00000520624.1_5'Flank	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	359						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.L359F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TATAGTTTATCAAATCAATTA	0.323																																							uc003ydq.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1075-1077)TTG>TTT		solute carrier family 7, (cationic amino acid							45.0	53.0	50.0					8																	87229801		2203	4298	6501	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87229801C>A	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1077G>T	8.37:g.87229801C>A	ENSP00000297524:p.Leu359Phe					SLC7A13_uc003ydr.1_Missense_Mutation_p.L350F	p.L359F	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			3	1175	-			359			Helical; Name=10; (Potential).		Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.1077G>T	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.982509	0.34942	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.88975	-2.45;-2.45	5.27	2.52	0.30459	Amino acid permease domain (1);	0.000000	0.48767	D	0.000164	D	0.94115	0.8113	M	0.89715	3.055	0.36517	D	0.869958	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93593	0.6923	10	0.72032	D	0.01	.	7.5442	0.27757	0.0:0.6603:0.0:0.3397	.	350;359	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	F	359;350	ENSP00000297524:L359F;ENSP00000410982:L350F	ENSP00000297524:L359F	L	-	3	2	SLC7A13	87298917	0.997000	0.39634	0.678000	0.29963	0.130000	0.20726	0.395000	0.20850	0.309000	0.22966	0.650000	0.86243	TTG		0.323	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		13	49	1	0	3.35478e-16	0.003163	4.8694e-16	13	49				
CNBD1	168975	broad.mit.edu	37	8	88365868	88365868	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:88365868G>T	ENST00000518476.1	+	10	1208	c.1157G>T	c.(1156-1158)aGa>aTa	p.R386I		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	386								p.R386I(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TAACAGAAAAGATCTCAAAAA	0.323																																							uc003ydy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1156-1158)AGA>ATA		cyclic nucleotide binding domain containing 1							55.0	55.0	55.0					8																	88365868		1798	4061	5859	SO:0001583	missense	168975							g.chr8:88365868G>T	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1157G>T	8.37:g.88365868G>T	ENSP00000430073:p.Arg386Ile						p.R386I	NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN			10	1205	+			386			cNMP.			Missense_Mutation	SNP	ENST00000518476.1	37	c.1157G>T	CCDS55259.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.643|8.643	0.896371|0.896371	0.17686|0.17686	.|.	.|.	ENSG00000176571|ENSG00000176571	ENST00000523299;ENST00000521593|ENST00000518476	.|T	.|0.20463	.|2.07	4.98|4.98	3.71|3.71	0.42584|0.42584	.|Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	.|0.122203	.|0.35772	.|N	.|0.002999	T|T	0.11623|0.11623	0.0283|0.0283	N|N	0.08118|0.08118	0|0	0.37707|0.37707	D|D	0.924431|0.924431	.|B	.|0.30889	.|0.299	.|B	.|0.35413	.|0.202	T|T	0.16276|0.16276	-1.0408|-1.0408	5|10	.|0.62326	.|D	.|0.03	-21.8253|-21.8253	7.4382|7.4382	0.27169|0.27169	0.8982:0.0:0.1018:0.0|0.8982:0.0:0.1018:0.0	.|.	.|386	.|Q8NA66	.|CNBD1_HUMAN	Y|I	78;23|386	.|ENSP00000430073:R386I	.|ENSP00000430073:R386I	D|R	+|+	1|2	0|0	CNBD1|CNBD1	88434984|88434984	0.990000|0.990000	0.36364|0.36364	0.820000|0.820000	0.32676|0.32676	0.033000|0.033000	0.12548|0.12548	2.006000|2.006000	0.40874|0.40874	0.740000|0.740000	0.32651|0.32651	-0.477000|-0.477000	0.04895|0.04895	GAT|AGA		0.323	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		9	69	1	0	0.000673444	0.008291	0.000723852	9	69				
MMP16	4325	broad.mit.edu	37	8	89180030	89180030	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:89180030G>T	ENST00000286614.6	-	4	858	c.577C>A	c.(577-579)Cat>Aat	p.H193N	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	193					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.H193N(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)	CTGTCCCCATGGAAACCAGAT	0.438																																							uc003yeb.3		NA																	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.(577-579)CAT>AAT		matrix metalloproteinase 16 isoform 1							89.0	79.0	83.0					8																	89180030		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.chr8:89180030G>T	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.577C>A	8.37:g.89180030G>T	ENSP00000286614:p.His193Asn					MMP16_uc003yec.2_Missense_Mutation_p.H193N	p.H193N	NM_005941	NP_005932	P51512	MMP16_HUMAN			4	859	-			193			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.577C>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080852	0.94050	.	.	ENSG00000156103	ENST00000286614	T	0.26957	1.7	5.77	5.77	0.91146	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.041429	0.85682	D	0.000000	T	0.65657	0.2712	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74878	-0.3514	10	0.72032	D	0.01	.	20.06	0.97671	0.0:0.0:1.0:0.0	.	193;193	P51512-2;P51512	.;MMP16_HUMAN	N	193	ENSP00000286614:H193N	ENSP00000286614:H193N	H	-	1	0	MMP16	89249146	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.781000	0.99029	2.743000	0.94032	0.644000	0.83932	CAT		0.438	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		6	65	1	0	2.7689e-08	0.001984	3.46353e-08	6	65				
TMEM67	91147	broad.mit.edu	37	8	94811942	94811942	+	Missense_Mutation	SNP	T	T	C	rs138508720		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:94811942T>C	ENST00000453321.3	+	21	2255	c.2197T>C	c.(2197-2199)Tat>Cat	p.Y733H	TMEM67_ENST00000409623.3_Missense_Mutation_p.Y652H	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	733					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)	p.Y723H(1)|p.Y733H(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CATTTTGAGATATGCAGTGTC	0.378																																							uc011lgk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2197-2199)TAT>CAT		meckelin isoform 1		T	HIS/TYR,HIS/TYR	1,4405	2.1+/-5.4	0,1,2202	146.0	136.0	139.0		1954,2197	5.6	1.0	8	dbSNP_134	139	0,8600		0,0,4300	no	missense,missense	TMEM67	NM_001142301.1,NM_153704.5	83,83	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging	652/915,733/996	94811942	1,13005	2203	4300	6503	SO:0001583	missense	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94811942T>C	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2197T>C	8.37:g.94811942T>C	ENSP00000389998:p.Tyr733His					TMEM67_uc010maw.2_Missense_Mutation_p.Y439H|TMEM67_uc003yga.3_Missense_Mutation_p.Y652H|TMEM67_uc011lgl.1_Missense_Mutation_p.Y132H	p.Y733H	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		21	2268	+	Breast(36;4.14e-07)		733					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.2197T>C	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	T	23.3	4.402448	0.83230	2.27E-4	0.0	ENSG00000164953	ENST00000453321;ENST00000409623	D;D	0.97378	-4.36;-4.36	5.62	5.62	0.85841	.	0.060678	0.64402	D	0.000002	D	0.97888	0.9306	M	0.62723	1.935	0.58432	D	0.999998	D;D;D	0.71674	0.996;0.998;0.998	D;D;D	0.68483	0.936;0.958;0.929	D	0.98888	1.0772	10	0.87932	D	0	-19.5093	15.8398	0.78837	0.0:0.0:0.0:1.0	.	733;652;652	Q5HYA8;B3KRU5;G5E9H2	MKS3_HUMAN;.;.	H	733;652	ENSP00000389998:Y733H;ENSP00000386966:Y652H	ENSP00000314488:Y723H	Y	+	1	0	TMEM67	94881118	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.001000	0.76297	2.138000	0.66242	0.528000	0.53228	TAT		0.378	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		12	133	0	0	0	0.001855	0	12	133				
CDH17	1015	broad.mit.edu	37	8	95164334	95164334	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:95164334C>G	ENST00000027335.3	-	13	1682	c.1558G>C	c.(1558-1560)Gat>Cat	p.D520H	CDH17_ENST00000450165.2_Missense_Mutation_p.D520H|CDH17_ENST00000441892.2_Missense_Mutation_p.D306H	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	520	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.D520H(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTTTCAAAATCAAGAGGCTGT	0.373																																							uc003ygh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(1558-1560)GAT>CAT		cadherin 17 precursor							65.0	67.0	66.0					8																	95164334		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95164334C>G	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1558G>C	8.37:g.95164334C>G	ENSP00000027335:p.Asp520His					CDH17_uc011lgo.1_Missense_Mutation_p.D306H|CDH17_uc011lgp.1_Missense_Mutation_p.D520H	p.D520H	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		13	1683	-	Breast(36;4.65e-06)		520			Extracellular (Potential).|Cadherin 5.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.1558G>C	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329830	0.81690	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.65364	-0.15;-0.15;-0.15	5.67	5.67	0.87782	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000034	D	0.86406	0.5925	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90286	0.4319	10	0.87932	D	0	-31.2106	17.0562	0.86534	0.0:1.0:0.0:0.0	.	306;520	E7EN24;Q12864	.;CAD17_HUMAN	H	520;306;520	ENSP00000027335:D520H;ENSP00000392811:D306H;ENSP00000401468:D520H	ENSP00000027335:D520H	D	-	1	0	CDH17	95233510	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.331000	0.65905	2.836000	0.97738	0.655000	0.94253	GAT		0.373	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		14	148	0	0	0	0.006122	0	14	148				
CDH17	1015	broad.mit.edu	37	8	95189928	95189928	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:95189928C>G	ENST00000027335.3	-	4	296	c.172G>C	c.(172-174)Gtg>Ctg	p.V58L	CDH17_ENST00000450165.2_Missense_Mutation_p.V58L|CDH17_ENST00000441892.2_Missense_Mutation_p.V58L	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	58	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.V58L(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCAAAAGTCACAGCAGGAGGA	0.398																																							uc003ygh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(172-174)GTG>CTG		cadherin 17 precursor							107.0	102.0	104.0					8																	95189928		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95189928C>G	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.172G>C	8.37:g.95189928C>G	ENSP00000027335:p.Val58Leu					CDH17_uc011lgo.1_Missense_Mutation_p.V58L|CDH17_uc011lgp.1_Missense_Mutation_p.V58L	p.V58L	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		4	297	-	Breast(36;4.65e-06)		58			Extracellular (Potential).|Cadherin 1.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.172G>C	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609504	0.46527	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165;ENST00000521491	T;T;T;T	0.60920	0.15;0.15;0.15;0.63	5.85	3.96	0.45880	Cadherin (3);Cadherin-like (1);	0.276016	0.25964	N	0.027174	T	0.47135	0.1429	L	0.52905	1.665	0.36623	D	0.87588	B;B	0.29188	0.236;0.07	B;B	0.24848	0.056;0.028	T	0.50030	-0.8875	10	0.22109	T	0.4	-2.4575	9.0091	0.36131	0.0:0.772:0.1481:0.08	.	58;58	E7EN24;Q12864	.;CAD17_HUMAN	L	58	ENSP00000027335:V58L;ENSP00000392811:V58L;ENSP00000401468:V58L;ENSP00000428189:V58L	ENSP00000027335:V58L	V	-	1	0	CDH17	95259104	0.976000	0.34144	1.000000	0.80357	0.944000	0.59088	1.501000	0.35693	1.483000	0.48342	0.563000	0.77884	GTG		0.398	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		35	98	0	0	0	0.003271	0	35	98				
UQCRB	7381	broad.mit.edu	37	8	97247751	97247751	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:97247751C>A	ENST00000287022.5	-	1	111	c.8G>T	c.(7-9)gGt>gTt	p.G3V	UQCRB_ENST00000518406.1_Missense_Mutation_p.G3V|UQCRB_ENST00000523920.1_Missense_Mutation_p.G3V|KB-1043D8.6_ENST00000520575.1_RNA|UQCRB_ENST00000517523.1_5'Flank	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	3					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)		p.G3V(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					GGCCTGCTTACCAGCCATTTT	0.532																																							uc003yhq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(7-9)GGT>GTT		ubiquinol-cytochrome c reductase binding							114.0	106.0	108.0					8																	97247751		2203	4300	6503	SO:0001583	missense	7381				aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity	g.chr8:97247751C>A	X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467		"""Mitochondrial respiratory chain complex / Complex III"""	12582	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit VI"", ""cytochrome b-c1 complex subunit 7"""	191330		UQBP		2167087, 2543413, 3056408	Standard	NM_006294		Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000287022.5:c.8G>T	8.37:g.97247751C>A	ENSP00000287022:p.Gly3Val					UQCRB_uc011lgt.1_RNA|UQCRB_uc010mbc.2_RNA	p.G3V	NM_006294	NP_006285	P14927	QCR7_HUMAN			1	112	-	Breast(36;5.16e-05)		3					E5RJU0|Q6FGD1	Missense_Mutation	SNP	ENST00000287022.5	37	c.8G>T	CCDS6269.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550904	0.45383	.	.	ENSG00000156467	ENST00000287022;ENST00000518406;ENST00000523920	T;T;T	0.52295	0.92;0.69;0.67	4.2	2.2	0.27929	.	0.952576	0.08735	N	0.901454	T	0.32041	0.0816	N	0.25647	0.755	0.09310	N	0.999992	P	0.35077	0.483	B	0.27887	0.084	T	0.13548	-1.0505	10	0.40728	T	0.16	0.0062	9.9662	0.41725	0.0:0.5939:0.4061:0.0	.	3	P14927	QCR7_HUMAN	V	3	ENSP00000287022:G3V;ENSP00000430494:G3V;ENSP00000430560:G3V	ENSP00000287022:G3V	G	-	2	0	UQCRB	97316927	0.003000	0.15002	0.116000	0.21606	0.289000	0.27227	1.632000	0.37102	1.081000	0.41110	0.655000	0.94253	GGT		0.532	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379863.1	NM_006294		6	84	1	0	2.7689e-08	0.001984	3.46353e-08	6	84				
SPAG1	6674	broad.mit.edu	37	8	101178126	101178126	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:101178126G>A	ENST00000388798.2	+	3	416	c.225G>A	c.(223-225)ttG>ttA	p.L75L	SPAG1_ENST00000251809.3_Silent_p.L75L|SPAG1_ENST00000520643.1_Silent_p.L75L|SPAG1_ENST00000520508.1_Silent_p.L75L	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	75					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.L75L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GCAGAGCTTTGAGGAAAGATA	0.363																																							uc003yjh.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(223-225)TTG>TTA		sperm associated antigen 1							67.0	68.0	67.0					8																	101178126		2203	4300	6503	SO:0001819	synonymous_variant	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101178126G>A	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.225G>A	8.37:g.101178126G>A						SPAG1_uc003yjg.1_Silent_p.L75L|SPAG1_uc003yji.1_Silent_p.L75L	p.L75L	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	3	311	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	75					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Silent	SNP	ENST00000388798.2	37	c.225G>A	CCDS34930.1																																																																																				0.363	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		15	102	0	0	0	0.003163	0	15	102				
BAALC	79870	broad.mit.edu	37	8	104225192	104225192	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:104225192C>A	ENST00000297574.6	+	3	450	c.311C>A	c.(310-312)aCa>aAa	p.T104K	RP11-318M2.2_ENST00000523614.2_RNA|BAALC_ENST00000309982.5_Missense_Mutation_p.T69K|BAALC_ENST00000438105.2_Intron|RP11-318M2.2_ENST00000499522.2_RNA			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	104						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.T69K(1)		kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CCCCGATCTACAGCCCCAGGT	0.572																																							uc003yld.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(205-207)ACA>AAA		brain and acute leukemia, cytoplasmic isoform 1							135.0	117.0	123.0					8																	104225192		2203	4300	6503	SO:0001583	missense	79870					centrosome|membrane|nucleus		g.chr8:104225192C>A	AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929			14333	protein-coding gene	gene with protein product		606602				11707601	Standard	NM_024812		Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000297574.6:c.311C>A	8.37:g.104225192C>A	ENSP00000297574:p.Thr104Lys					BAALC_uc003yle.2_Intron|uc003ylf.2_Intron|BAALC_uc003ylg.2_Missense_Mutation_p.T15K|BAALC_uc010mcc.2_5'Flank	p.T69K	NM_024812	NP_079088	Q8WXS3	BAALC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)		2	411	+			104					Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	Missense_Mutation	SNP	ENST00000297574.6	37	c.206C>A		.	.	.	.	.	.	.	.	.	.	C	15.71	2.914182	0.52546	.	.	ENSG00000164929	ENST00000309982;ENST00000297574	T;T	0.46819	1.01;0.86	5.69	5.69	0.88448	.	0.939600	0.08906	N	0.876534	T	0.46483	0.1395	.	.	.	0.80722	D	1	B;B	0.24186	0.099;0.069	B;B	0.24701	0.04;0.055	T	0.25467	-1.0131	9	0.72032	D	0.01	1.6186	15.6714	0.77279	0.0:1.0:0.0:0.0	.	104;69	Q8WXS3;Q8WXS3-2	BAALC_HUMAN;.	K	69;104	ENSP00000312457:T69K;ENSP00000297574:T104K	ENSP00000297574:T104K	T	+	2	0	BAALC	104294368	0.320000	0.24616	0.546000	0.28166	0.751000	0.42716	2.559000	0.45888	2.840000	0.97914	0.655000	0.94253	ACA		0.572	BAALC-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000380257.1			48	221	1	0	2.51966e-14	0.00361	3.58477e-14	48	221				
ZFPM2	23414	broad.mit.edu	37	8	106801053	106801053	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:106801053C>T	ENST00000407775.2	+	6	890	c.640C>T	c.(640-642)Ctc>Ttc	p.L214F	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_5'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.L82F|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.L82F	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	214					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L214F(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCAGATGACTCTCACAGAAGG	0.498																																							uc003ymd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(640-642)CTC>TTC		zinc finger protein, multitype 2							114.0	112.0	113.0					8																	106801053		2003	4186	6189	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106801053C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.640C>T	8.37:g.106801053C>T	ENSP00000384179:p.Leu214Phe					ZFPM2_uc011lhs.1_5'UTR	p.L214F	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		6	663	+			214					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.640C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948729	0.34377	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361	T;T;T	0.20881	2.04;2.52;2.52	5.62	1.82	0.25136	.	0.122213	0.53938	N	0.000042	T	0.12263	0.0298	N	0.22421	0.69	0.80722	D	1	P	0.34864	0.473	B	0.32393	0.145	T	0.11179	-1.0598	10	0.44086	T	0.13	.	8.9045	0.35515	0.0:0.645:0.2293:0.1257	.	214	Q8WW38	FOG2_HUMAN	F	214;82;82	ENSP00000384179:L214F;ENSP00000430757:L82F;ENSP00000428720:L82F	ENSP00000384179:L214F	L	+	1	0	ZFPM2	106870229	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	1.516000	0.35856	0.127000	0.18452	-0.939000	0.02691	CTC		0.498	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			10	86	0	0	0	0.006214	0	10	86				
RSPO2	340419	broad.mit.edu	37	8	108972928	108972928	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:108972928G>T	ENST00000276659.5	-	4	1021	c.401C>A	c.(400-402)cCa>cAa	p.P134Q	RSPO2_ENST00000378439.2_Missense_Mutation_p.P71Q|RSPO2_ENST00000517781.1_Missense_Mutation_p.P71Q|RSPO2_ENST00000517939.1_Missense_Mutation_p.P67Q	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	134					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.P134Q(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TTCTTCTAATGGTGCAAAACC	0.363																																							uc003yms.2		NA																	1	Substitution - Missense(1)	p.P134P(1)	lung(1)	skin(3)|ovary(2)|pancreas(1)|lung(1)	7						c.(400-402)CCA>CAA		R-spondin family, member 2 precursor							104.0	96.0	99.0					8																	108972928		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:108972928G>T	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.401C>A	8.37:g.108972928G>T	ENSP00000276659:p.Pro134Gln					RSPO2_uc003ymq.2_Missense_Mutation_p.P67Q|RSPO2_uc003ymr.2_Missense_Mutation_p.P71Q	p.P134Q	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		4	1059	-			134			FU.		B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.401C>A	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852632	0.91355	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502;ENST00000521757	T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.87	5.87	0.94306	Growth factor, receptor (1);	0.154944	0.64402	D	0.000017	T	0.81730	0.4884	L	0.31294	0.92	0.80722	D	1	P;P	0.52061	0.948;0.95	P;P	0.55577	0.779;0.735	T	0.77127	-0.2702	10	0.22706	T	0.39	1.8157	20.2154	0.98294	0.0:0.0:1.0:0.0	.	134;71	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	Q	67;71;71;134;67;67	ENSP00000428940:P67Q;ENSP00000427937:P71Q;ENSP00000367698:P71Q;ENSP00000276659:P134Q;ENSP00000428614:P67Q;ENSP00000430485:P67Q	ENSP00000276659:P134Q	P	-	2	0	RSPO2	109042104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.804000	0.99143	2.788000	0.95919	0.551000	0.68910	CCA		0.363	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		29	54	1	0	1.84765e-07	0.003755	2.2485e-07	29	54				
PKHD1L1	93035	broad.mit.edu	37	8	110432808	110432808	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:110432808G>C	ENST00000378402.5	+	23	2690	c.2586G>C	c.(2584-2586)caG>caC	p.Q862H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	862					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.Q864H(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)			AGCACTTTCAGGTGAATCAGA	0.343										HNSCC(38;0.096)																													uc003yne.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(2584-2586)CAG>CAC		fibrocystin L precursor							111.0	103.0	106.0					8																	110432808		1833	4092	5925	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110432808G>C	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.2586G>C	8.37:g.110432808G>C	ENSP00000367655:p.Gln862His	HNSCC(38;0.096)					p.Q862H	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		23	2690	+			862			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.2586G>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	9.819	1.185374	0.21870	.	.	ENSG00000205038	ENST00000378402	D	0.86097	-2.07	5.54	2.18	0.27775	.	0.343657	0.26711	N	0.022893	T	0.81536	0.4843	M	0.63428	1.95	0.22552	N	0.99899	P	0.48162	0.906	B	0.43701	0.428	T	0.72301	-0.4334	10	0.44086	T	0.13	.	7.8813	0.29624	0.3083:0.0:0.6917:0.0	.	862	Q86WI1	PKHL1_HUMAN	H	862	ENSP00000367655:Q862H	ENSP00000367655:Q862H	Q	+	3	2	PKHD1L1	110501984	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	0.389000	0.20751	0.655000	0.30866	0.585000	0.79938	CAG		0.343	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		10	83	0	0	0	0.006214	0	10	83				
PKHD1L1	93035	broad.mit.edu	37	8	110476838	110476838	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:110476838G>C	ENST00000378402.5	+	49	7881	c.7777G>C	c.(7777-7779)Gat>Cat	p.D2593H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2593					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D2595H(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)			CAACCACCCTGATGGGCCATC	0.453										HNSCC(38;0.096)																													uc003yne.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(7777-7779)GAT>CAT		fibrocystin L precursor							85.0	86.0	85.0					8																	110476838		1962	4166	6128	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110476838G>C	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.7777G>C	8.37:g.110476838G>C	ENSP00000367655:p.Asp2593His	HNSCC(38;0.096)					p.D2593H	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	7881	+			2593			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7777G>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556746	0.45487	.	.	ENSG00000205038	ENST00000378402	D	0.82081	-1.57	5.55	5.55	0.83447	Pectin lyase fold/virulence factor (1);	0.119923	0.53938	D	0.000047	D	0.90573	0.7045	M	0.76838	2.35	0.48571	D	0.999673	D	0.76494	0.999	D	0.65987	0.94	D	0.91185	0.4979	10	0.62326	D	0.03	.	16.9905	0.86352	0.0:0.0:1.0:0.0	.	2593	Q86WI1	PKHL1_HUMAN	H	2593	ENSP00000367655:D2593H	ENSP00000367655:D2593H	D	+	1	0	PKHD1L1	110546014	1.000000	0.71417	0.987000	0.45799	0.094000	0.18550	8.117000	0.89575	2.610000	0.88304	0.655000	0.94253	GAT		0.453	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		11	116	0	0	0	0.000978	0	11	116				
KCNV1	27012	broad.mit.edu	37	8	110984554	110984554	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:110984554C>A	ENST00000524391.1	-	3	1956	c.924G>T	c.(922-924)ggG>ggT	p.G308G	KCNV1_ENST00000297404.1_Silent_p.G308G|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	308					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)	p.G308G(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGACAATGCGCCCCACGTTCT	0.522																																							uc003ynr.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)|kidney(1)	2						c.(922-924)GGG>GGT		potassium channel, subfamily V, member 1							90.0	76.0	81.0					8																	110984554		2203	4300	6503	SO:0001819	synonymous_variant	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984554C>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.924G>T	8.37:g.110984554C>A						KCNV1_uc010mcw.2_Silent_p.G308G	p.G308G	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		2	1266	-	all_neural(195;0.219)		308			Extracellular (Potential).		Q9UHJ4	Silent	SNP	ENST00000524391.1	37	c.924G>T	CCDS6314.1																																																																																				0.522	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		52	44	1	0	5.39261e-20	0.00361	8.18006e-20	52	44				
CSMD3	114788	broad.mit.edu	37	8	113332155	113332155	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:113332155C>T	ENST00000297405.5	-	46	7465	c.7221G>A	c.(7219-7221)ttG>ttA	p.L2407L	CSMD3_ENST00000455883.2_Silent_p.L2303L|CSMD3_ENST00000352409.3_Silent_p.L2337L|CSMD3_ENST00000343508.3_Silent_p.L2367L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2407	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L2367L(1)|p.L2407L(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						CATCTTCCGTCAAAATTTCAG	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	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.(7219-7221)TTG>TTA		CUB and Sushi multiple domains 3 isoform 1							124.0	126.0	125.0					8																	113332155		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113332155C>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.7221G>A	8.37:g.113332155C>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.L1609L|CSMD3_uc003ynt.2_Silent_p.L2367L|CSMD3_uc011lhx.1_Silent_p.L2303L|CSMD3_uc003ynw.1_Silent_p.L118L	p.L2407L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			46	7380	-			2407			Extracellular (Potential).|Sushi 13.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.7221G>A	CCDS6315.1																																																																																				0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	161	0	0	0	0.000602	0	4	161				
CSMD3	114788	broad.mit.edu	37	8	113420618	113420618	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:113420618C>A	ENST00000297405.5	-	34	5778	c.5534G>T	c.(5533-5535)gGt>gTt	p.G1845V	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1741V|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1805V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1845	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1805V(1)|p.G1845V(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						GATCTGATTACCTGAACTCAG	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(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.(5533-5535)GGT>GTT		CUB and Sushi multiple domains 3 isoform 1							176.0	171.0	173.0					8																	113420618		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113420618C>A	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.5534G>T	8.37:g.113420618C>A	ENSP00000297405:p.Gly1845Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Missense_Mutation_p.G1805V|CSMD3_uc011lhx.1_Missense_Mutation_p.G1741V	p.G1845V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			34	5693	-			1845			Extracellular (Potential).|CUB 10.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5534G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961487	0.53400	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883	T;T;T	0.62941	-0.01;-0.01;-0.01	4.98	4.98	0.66077	CUB (5);	0.073313	0.53938	D	0.000051	D	0.83431	0.5253	M	0.92691	3.335	0.80722	D	1	B;B;D	0.69078	0.124;0.091;0.997	B;B;D	0.69479	0.169;0.119;0.964	D	0.85354	0.1103	10	0.42905	T	0.14	.	18.8043	0.92030	0.0:1.0:0.0:0.0	.	1741;1845;1805	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1805;1845;1741	ENSP00000345799:G1805V;ENSP00000297405:G1845V;ENSP00000412263:G1741V	ENSP00000297405:G1845V	G	-	2	0	CSMD3	113489794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.349000	0.44054	2.750000	0.94351	0.591000	0.81541	GGT		0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		13	80	1	0	9.31168e-06	0.001855	1.06462e-05	13	80				
ENPP2	5168	broad.mit.edu	37	8	120631544	120631544	+	Splice_Site	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:120631544C>T	ENST00000075322.6	-	5	477	c.419G>A	c.(418-420)gGa>gAa	p.G140E	ENPP2_ENST00000522826.1_Splice_Site_p.G140E|ENPP2_ENST00000427067.2_Splice_Site_p.G136E|ENPP2_ENST00000259486.6_Splice_Site_p.G140E	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	140	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G140E(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATGCGACTCTCCTATAAGGAA	0.373																																					Melanoma(20;305 879 2501 4818 31020)	Melanoma(20;305 879 2501 4818 31020)	uc003yot.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(418-420)GGA>GAA		autotaxin isoform 2 preproprotein							93.0	87.0	89.0					8																	120631544		2203	4300	6503	SO:0001630	splice_region_variant	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120631544C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.419-1G>A	8.37:g.120631544C>T						ENPP2_uc003yos.1_Missense_Mutation_p.G140E|ENPP2_uc010mdd.1_Missense_Mutation_p.G140E	p.G140E	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		5	505	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		140			SMB 2.		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.419G>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643733	0.67244	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.49	5.49	0.81192	Somatomedin B domain (3);	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71130	-0.4682	10	0.62326	D	0.03	.	19.7404	0.96228	0.0:1.0:0.0:0.0	.	140;140;140	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	E	140;136;140;140;122	ENSP00000259486:G140E;ENSP00000403315:G136E;ENSP00000428291:G140E;ENSP00000075322:G140E;ENSP00000428304:G122E	ENSP00000075322:G140E	G	-	2	0	ENPP2	120700725	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	5.723000	0.68492	2.746000	0.94184	0.460000	0.39030	GGA		0.373	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		Missense_Mutation	8	87	0	0	0	0.004482	0	8	87				
COL14A1	7373	broad.mit.edu	37	8	121209165	121209165	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:121209165G>T	ENST00000297848.3	+	6	842	c.572G>T	c.(571-573)gGc>gTc	p.G191V	COL14A1_ENST00000309791.4_Missense_Mutation_p.G191V|COL14A1_ENST00000537875.1_Missense_Mutation_p.G191V|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.G191V	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.G191V(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTCGATGTGGGCTCAGAGAAG	0.388																																							uc003yox.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(571-573)GGC>GTC		collagen, type XIV, alpha 1 precursor							171.0	160.0	164.0					8																	121209165		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121209165G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.572G>T	8.37:g.121209165G>T	ENSP00000297848:p.Gly191Val					COL14A1_uc003yoy.2_5'UTR|COL14A1_uc010mde.1_5'UTR	p.G191V	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		6	837	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		191			VWFA 1.			Missense_Mutation	SNP	ENST00000297848.3	37	c.572G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251544	0.59212	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	5.43	4.56	0.56223	von Willebrand factor, type A (3);	0.215830	0.48767	D	0.000176	D	0.91270	0.7248	H	0.94734	3.575	0.80722	D	1	D	0.58268	0.982	P	0.52159	0.691	D	0.92332	0.5874	10	0.72032	D	0.01	.	9.713	0.40256	0.0731:0.1408:0.7861:0.0	.	191	Q05707	COEA1_HUMAN	V	191;191;191;191;4	ENSP00000443974:G191V;ENSP00000311809:G191V;ENSP00000297848:G191V;ENSP00000247781:G191V;ENSP00000409461:G4V	ENSP00000247781:G191V	G	+	2	0	COL14A1	121278346	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.348000	0.44045	1.533000	0.49186	0.650000	0.86243	GGC		0.388	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		81	214	1	0	6.71967e-41	0.00361	1.12203e-40	81	214				
COL14A1	7373	broad.mit.edu	37	8	121216051	121216051	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:121216051G>T	ENST00000297848.3	+	9	1251	c.981G>T	c.(979-981)gtG>gtT	p.V327V	COL14A1_ENST00000309791.4_Silent_p.V327V|COL14A1_ENST00000537875.1_Silent_p.V327V|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.V232V	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.V327V(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACACAGTTGTGGAGAGTCTGA	0.463																																							uc003yox.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(979-981)GTG>GTT		collagen, type XIV, alpha 1 precursor							122.0	104.0	110.0					8																	121216051		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121216051G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.981G>T	8.37:g.121216051G>T						COL14A1_uc003yoy.2_Silent_p.V5V|COL14A1_uc010mde.1_Silent_p.V5V	p.V327V	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		9	1246	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		327			VWFA 1.			Silent	SNP	ENST00000297848.3	37	c.981G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	9.653	1.142198	0.21205	.	.	ENSG00000187955	ENST00000523142	.	.	.	5.21	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1059	0.48203	0.0708:0.1282:0.801:0.0	.	.	.	.	X	84	.	.	G	+	1	0	COL14A1	121285232	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	1.952000	0.40343	1.426000	0.47256	0.655000	0.94253	GGA		0.463	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		30	48	1	0	2.46105e-21	0.002096	3.81375e-21	30	48				
TBC1D31	93594	broad.mit.edu	37	8	124132400	124132400	+	Silent	SNP	C	C	T	rs561570593	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:124132400C>T	ENST00000287380.1	+	11	1632	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	TBC1D31_ENST00000518805.1_Silent_p.I147I|TBC1D31_ENST00000309336.3_Silent_p.I514I|TBC1D31_ENST00000521676.1_Silent_p.I391I|TBC1D31_ENST00000522420.1_Silent_p.I409I|TBC1D31_ENST00000378080.2_Silent_p.I409I|TBC1D31_ENST00000327098.5_Silent_p.I514I	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	514	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.I514I(1)									ACCAACTCATCTGTTTTGAAG	0.333																																							uc003ypp.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1540-1542)ATC>ATT		WD repeat domain 67 isoform 1							95.0	83.0	87.0					8																	124132400		2202	4298	6500	SO:0001819	synonymous_variant	93594					centrosome	Rab GTPase activator activity	g.chr8:124132400C>T	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1542C>T	8.37:g.124132400C>T						WDR67_uc011lig.1_Silent_p.I514I|WDR67_uc011lih.1_Silent_p.I404I|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Silent_p.I227I	p.I514I	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		11	1632	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		514			Rab-GAP TBC.		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Silent	SNP	ENST00000287380.1	37	c.1542C>T	CCDS6338.1																																																																																				0.333	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		6	6	0	0	0	0.001984	0	6	6				
TRMT12	55039	broad.mit.edu	37	8	125463762	125463762	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:125463762G>T	ENST00000328599.3	+	1	715	c.594G>T	c.(592-594)tgG>tgT	p.W198C	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	198					tRNA processing (GO:0008033)		transferase activity (GO:0016740)	p.W198C(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACCATGGCTGGGTAGAGCATG	0.522																																							uc003yra.3		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(592-594)TGG>TGT		homolog of yeast tRNA methyltransferase 12							142.0	124.0	130.0					8																	125463762		2203	4300	6503	SO:0001583	missense	55039				tRNA processing		methyltransferase activity	g.chr8:125463762G>T	AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.594G>T	8.37:g.125463762G>T	ENSP00000329858:p.Trp198Cys						p.W198C	NM_017956	NP_060426	Q53H54	TYW2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	715	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		198					Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	37	c.594G>T	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188763	0.57909	.	.	ENSG00000183665	ENST00000328599	T	0.23348	1.91	4.8	4.8	0.61643	.	0.134965	0.64402	D	0.000019	T	0.60818	0.2298	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70543	-0.4843	10	0.62326	D	0.03	-13.3796	16.1632	0.81732	0.0:0.0:1.0:0.0	.	198	Q53H54	TYW2_HUMAN	C	198	ENSP00000329858:W198C	ENSP00000329858:W198C	W	+	3	0	TRMT12	125532943	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	5.714000	0.68422	2.587000	0.87381	0.561000	0.74099	TGG		0.522	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		28	101	1	0	1.30897e-18	0.009535	1.958e-18	28	101				
ASAP1	50807	broad.mit.edu	37	8	131140239	131140239	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:131140239T>C	ENST00000518721.1	-	16	1542	c.1315A>G	c.(1315-1317)Aaa>Gaa	p.K439E	ASAP1_ENST00000357668.1_Missense_Mutation_p.K439E	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	439	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.K439E(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ATAATGGCTTTTGTCAGGTCT	0.483																																							uc003yta.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1315-1317)AAA>GAA		development and differentiation enhancing factor							134.0	115.0	121.0					8																	131140239		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131140239T>C	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1315A>G	8.37:g.131140239T>C	ENSP00000429900:p.Lys439Glu					ASAP1_uc003ysz.1_Missense_Mutation_p.K250E|ASAP1_uc011liw.1_Missense_Mutation_p.K432E	p.K439E	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			15	1343	-			439			Arf-GAP.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.1315A>G	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	33|33	5.236160|5.236160	0.95240|0.95240	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124	T;T|.	0.42131|.	0.98;0.98|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.80747|0.80747	0.4682|0.4682	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.964;0.964;0.997|.	P;P;D|.	0.70227|.	0.716;0.716;0.968|.	D|D	0.83870|0.83870	0.0273|0.0273	10|6	0.87932|.	D|.	0|.	.|.	15.4635|15.4635	0.75381|0.75381	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	439;439;442|.	B2RNV3;Q9ULH1;Q9ULH1-2|.	.;ASAP1_HUMAN;.|.	E|R	442;439;439|259	ENSP00000350297:K439E;ENSP00000429900:K439E|.	ENSP00000344591:K442E|.	K|K	-|-	1|2	0|0	ASAP1|ASAP1	131209421|131209421	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.986000|0.986000	0.74619|0.74619	7.645000|7.645000	0.83430|0.83430	2.240000|2.240000	0.73641|0.73641	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.483	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		8	100	0	0	0	0.008291	0	8	100				
ADCY8	114	broad.mit.edu	37	8	131792968	131792968	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:131792968C>A	ENST00000286355.5	-	18	5516	c.3424G>T	c.(3424-3426)Gac>Tac	p.D1142Y	ADCY8_ENST00000377928.3_Missense_Mutation_p.D1011Y	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1142					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.D1142Y(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGCCCTGGTCCTTCAGGATG	0.502										HNSCC(32;0.087)																													uc003ytd.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3424-3426)GAC>TAC		adenylate cyclase 8							148.0	149.0	148.0					8																	131792968		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131792968C>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3424G>T	8.37:g.131792968C>A	ENSP00000286355:p.Asp1142Tyr	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.D1011Y	p.D1142Y	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		18	3680	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1142			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.3424G>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608465	0.87258	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.33865	1.39;1.39	5.79	5.79	0.91817	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.170730	0.50627	D	0.000119	T	0.59905	0.2228	M	0.66378	2.025	0.36740	D	0.882165	D;D	0.65815	0.995;0.995	D;D	0.67725	0.926;0.953	T	0.65401	-0.6177	10	0.66056	D	0.02	.	19.0195	0.92908	0.0:1.0:0.0:0.0	.	1011;1142	E7EVL1;P40145	.;ADCY8_HUMAN	Y	1142;1011	ENSP00000286355:D1142Y;ENSP00000367161:D1011Y	ENSP00000286355:D1142Y	D	-	1	0	ADCY8	131862150	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.972000	0.63756	2.746000	0.94184	0.655000	0.94253	GAC		0.502	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			16	245	1	0	3.45872e-05	0.004007	3.90465e-05	16	245				
EFR3A	23167	broad.mit.edu	37	8	132958799	132958799	+	Silent	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:132958799A>G	ENST00000254624.5	+	4	510	c.285A>G	c.(283-285)ccA>ccG	p.P95P	EFR3A_ENST00000519656.1_Silent_p.P59P|EFR3A_ENST00000334503.4_Silent_p.P95P	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	95						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.P95P(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCATTAAGCCATTTGTAGAAA	0.408																																							uc003yte.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)	5						c.(283-285)CCA>CCG		EFR3 homolog A							84.0	76.0	79.0					8																	132958799		2202	4300	6502	SO:0001819	synonymous_variant	23167					plasma membrane	binding	g.chr8:132958799A>G	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.285A>G	8.37:g.132958799A>G							p.P95P	NM_015137	NP_055952	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		4	486	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		95					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP	ENST00000254624.5	37	c.285A>G	CCDS34942.2																																																																																				0.408	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		3	12	0	0	0	0.004672	0	3	12				
PHF20L1	51105	broad.mit.edu	37	8	133823337	133823337	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:133823337G>T	ENST00000395386.2	+	9	1193	c.894G>T	c.(892-894)aaG>aaT	p.K298N	PHF20L1_ENST00000395376.1_Missense_Mutation_p.K303N|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Missense_Mutation_p.K272N|PHF20L1_ENST00000395390.2_Missense_Mutation_p.K273N|PHF20L1_ENST00000395379.1_Missense_Mutation_p.K298N	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	298							zinc ion binding (GO:0008270)	p.K272N(2)|p.K298N(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTGAAAAAAAGGAAGACTACA	0.388																																							uc003ytt.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(892-894)AAG>AAT		PHD finger protein 20-like 1 isoform 1							147.0	157.0	153.0					8																	133823337		2203	4300	6503	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133823337G>T	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.894G>T	8.37:g.133823337G>T	ENSP00000378784:p.Lys298Asn					PHF20L1_uc003ytr.2_Missense_Mutation_p.K272N|PHF20L1_uc010mdv.2_Missense_Mutation_p.K272N|PHF20L1_uc003yts.2_Missense_Mutation_p.K298N|PHF20L1_uc011lja.1_Missense_Mutation_p.K272N|PHF20L1_uc003ytu.1_RNA|PHF20L1_uc003ytv.2_Missense_Mutation_p.K137N	p.K298N	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		9	1219	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		298					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.894G>T	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272231	0.59649	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395382;ENST00000395390;ENST00000395374	T;T;T;T;T;T;T;T	0.58652	0.36;0.61;0.35;1.02;0.32;0.53;0.61;1.03	6.07	1.45	0.22620	.	0.404947	0.29192	N	0.012871	T	0.59266	0.2181	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.996	D;D;D;D;D	0.91635	0.996;0.996;0.993;0.999;0.99	T	0.58008	-0.7712	10	0.87932	D	0	-5.7343	5.078	0.14642	0.3032:0.0:0.5488:0.1479	.	273;137;298;298;272	F8W9L8;G5E9D0;A8MW92;A8MW92-4;A8MW92-2	.;.;P20L1_HUMAN;.;.	N	302;298;273;298;298;272;303;168;273;137	ENSP00000378781:K302N;ENSP00000378777:K298N;ENSP00000355301:K273N;ENSP00000378784:K298N;ENSP00000324519:K298N;ENSP00000338269:K272N;ENSP00000378775:K303N;ENSP00000378788:K273N	ENSP00000324519:K298N	K	+	3	2	PHF20L1	133892519	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	1.431000	0.34925	0.361000	0.24292	-0.188000	0.12872	AAG		0.388	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		12	168	1	0	4.3838e-07	0.001855	5.25178e-07	12	168				
FAM135B	51059	broad.mit.edu	37	8	139151289	139151289	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:139151289T>A	ENST00000395297.1	-	18	4011	c.3841A>T	c.(3841-3843)Acc>Tcc	p.T1281S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1281								p.T1281S(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCCTGAAGGTCAGCTGCAGT	0.408										HNSCC(54;0.14)																													uc003yuy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(3841-3843)ACC>TCC		hypothetical protein LOC51059							126.0	120.0	122.0					8																	139151289		1867	4110	5977	SO:0001583	missense	51059							g.chr8:139151289T>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3841A>T	8.37:g.139151289T>A	ENSP00000378710:p.Thr1281Ser	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.T1182S|FAM135B_uc003yuz.2_RNA	p.T1281S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		18	4012	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1281					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3841A>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	23.1	4.374687	0.82573	.	.	ENSG00000147724	ENST00000395297	T	0.43294	0.95	5.58	4.42	0.53409	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	T	0.44307	0.1287	N	0.11818	0.18	0.47276	D	0.999373	D	0.76494	0.999	D	0.83275	0.996	T	0.47471	-0.9115	10	0.59425	D	0.04	-14.3606	10.7735	0.46336	0.0:0.0743:0.0:0.9257	.	1281	Q49AJ0	F135B_HUMAN	S	1281	ENSP00000378710:T1281S	ENSP00000378710:T1281S	T	-	1	0	FAM135B	139220471	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.169000	0.64984	0.955000	0.37878	0.533000	0.62120	ACC		0.408	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		14	174	0	0	0	0.007413	0	14	174				
LY6K	54742	broad.mit.edu	37	8	143782017	143782017	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:143782017A>T	ENST00000292430.6	+	1	489	c.72A>T	c.(70-72)agA>agT	p.R24S	LY6K_ENST00000519387.1_Missense_Mutation_p.R24S|LY6K_ENST00000518841.1_Missense_Mutation_p.R24S|LY6K_ENST00000561179.1_Missense_Mutation_p.R82S|CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000522591.1_Missense_Mutation_p.R24S			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	24						anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R82S(1)		NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGACTGCGAGACAACGAGATC	0.706																																							uc011ljv.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(70-72)AGA>AGT		lymphocyte antigen 6 complex, locus K isoform 1							18.0	20.0	19.0					8																	143782017		2194	4288	6482	SO:0001583	missense	54742					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		g.chr8:143782017A>T	AK092545	CCDS6385.1, CCDS6385.2, CCDS59114.1	8q24.3	2009-08-06				ENSG00000160886			24225	protein-coding gene	gene with protein product	"""cancer/testis antigen 97"""	615093				12516096	Standard	NM_017527		Approved	HSJ001348, FLJ35226, CT97	uc011ljv.2	Q17RY6		ENST00000292430.6:c.72A>T	8.37:g.143782017A>T	ENSP00000292430:p.Arg24Ser					LY6K_uc011ljw.1_Missense_Mutation_p.R24S|LY6K_uc011ljx.1_Missense_Mutation_p.R24S	p.R24S	NM_017527	NP_059997	Q17RY6	LY6K_HUMAN			1	489	+	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		24					G3V116|O15227|Q9BVD7	Missense_Mutation	SNP	ENST00000292430.6	37	c.72A>T	CCDS6385.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.16|16.16	3.043193|3.043193	0.55003|0.55003	.|.	.|.	ENSG00000160886|ENSG00000160886	ENST00000522591|ENST00000292430;ENST00000518841;ENST00000519387	.|.	.|.	.|.	1.81|1.81	-2.59|-2.59	0.06209|0.06209	.|.	.|.	.|.	.|.	.|.	T|T	0.32436|0.32436	0.0829|0.0829	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	.|D;P;P	.|0.59357	.|0.985;0.914;0.722	.|P;B;B	.|0.48921	.|0.595;0.373;0.33	T|T	0.21759|0.21759	-1.0236|-1.0236	5|8	.|0.42905	.|T	.|0.14	.|.	6.0171|6.0171	0.19608|0.19608	0.4461:0.0:0.5539:0.0|0.4461:0.0:0.5539:0.0	.|.	.|82;82;24	.|G3V116;E5RGJ8;Q17RY6	.|.;.;LY6K_HUMAN	V|S	43|82	.|.	.|ENSP00000292430:R82S	D|R	+|+	2|3	0|2	LY6K|LY6K	143779019|143779019	.|.	.|.	0.000000|0.000000	0.03702|0.03702	0.114000|0.114000	0.19823|0.19823	.|.	.|.	-0.657000|-0.657000	0.05373|0.05373	0.254000|0.254000	0.18369|0.18369	GAC|AGA		0.706	LY6K-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379893.2	NM_017527		7	10	0	0	0	0.00308	0	7	10				
CYP11B2	1585	broad.mit.edu	37	8	143994820	143994820	+	Silent	SNP	G	G	T	rs140463031		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:143994820G>T	ENST00000323110.2	-	6	1004	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	334					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.P334P(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GCTGCACGTCGGGGTTCCGAG	0.637									Familial Hyperaldosteronism type I																														uc003yxk.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1000-1002)CCC>CCA		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						74.0	73.0	74.0					8																	143994820		2203	4300	6503	SO:0001819	synonymous_variant	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143994820G>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1002C>A	8.37:g.143994820G>T							p.P334P	NM_000498	NP_000489	P19099	C11B2_HUMAN			6	1005	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		334					B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	c.1002C>A	CCDS6393.1																																																																																				0.637	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			54	44	1	0	2.27459e-33	0.00361	3.74577e-33	54	44				
CYP11B2	1585	broad.mit.edu	37	8	143995724	143995725	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:143995724_143995725TG>AT	ENST00000323110.2	-	5	911_912	c.909_910CA>AT	c.(907-912)gcCAtc>gcATtc	p.I304F		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	304					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.I304F(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	TTGGCCTTGATGGCTTCTAGTG	0.584									Familial Hyperaldosteronism type I																														uc003yxk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(907-912)GCCATC>GCATTC		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)																																			SO:0001583	missense	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143995724_143995725TG>AT	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.909_910delinsAT	8.37:g.143995724_143995725delinsAT	ENSP00000325822:p.Ile304Phe						p.I304F	NM_000498	NP_000489	P19099	C11B2_HUMAN			5	912_913	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		304					B0ZBE4|Q16726	Missense_Mutation	DNP	ENST00000323110.2	37	c.909_910CA>AT	CCDS6393.1																																																																																				0.584	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			29	56	0	0	0	0.004672	0	29	56				
EPPK1	83481	broad.mit.edu	37	8	144940309	144940309	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:144940309C>G	ENST00000525985.1	-	2	7184	c.7113G>C	c.(7111-7113)gaG>gaC	p.E2371D				P58107	EPIPL_HUMAN	epiplakin 1	2371						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCGGTTCATCTCCTCGTCGA	0.677																																							uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(15121-15123)GAG>GAC		epiplakin 1							268.0	256.0	260.0					8																	144940309		2193	4273	6466	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940309C>G	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7113G>C	8.37:g.144940309C>G	ENSP00000436337:p.Glu2371Asp						p.E5041D	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	15136	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		5041			Plectin 64.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.15123G>C		.	.	.	.	.	.	.	.	.	.	C	14.21	2.468452	0.43839	.	.	ENSG00000227184	ENST00000525985	T	0.74842	-0.88	4.43	2.57	0.30868	.	.	.	.	.	T	0.62913	0.2467	L	0.33753	1.03	0.31296	N	0.688905	B	0.09022	0.002	B	0.15052	0.012	T	0.57763	-0.7755	9	0.23891	T	0.37	.	12.7616	0.57367	0.0:0.5771:0.4229:0.0	.	2371	E9PPU0	.	D	2371	ENSP00000436337:E2371D	ENSP00000436337:E2371D	E	-	3	2	EPPK1	145012297	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.489000	0.22387	0.562000	0.29204	0.591000	0.81541	GAG		0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		8	623	0	0	0	0.006214	0	8	623				
PARP10	84875	broad.mit.edu	37	8	145057392	145057392	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:145057392G>A	ENST00000313028.7	-	8	2459	c.2365C>T	c.(2365-2367)Ctg>Ttg	p.L789L	PARP10_ENST00000524918.1_Silent_p.L780L|PARP10_ENST00000525773.1_Silent_p.L801L|PARP10_ENST00000533665.1_5'Flank	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	789	Myc binding.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L789L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCAGCCAGAAGTGCCACC	0.657																																							uc003zal.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6						c.(2365-2367)CTG>TTG		poly (ADP-ribose) polymerase family, member 10							30.0	32.0	31.0					8																	145057392		2203	4300	6503	SO:0001819	synonymous_variant	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145057392G>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.2365C>T	8.37:g.145057392G>A						PARP10_uc003zak.3_Silent_p.L486L|PARP10_uc011lku.1_Silent_p.L801L|PARP10_uc011lkv.1_Intron|PARP10_uc003zam.2_Silent_p.L780L	p.L789L	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		8	2473	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		789			Myc binding.		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Silent	SNP	ENST00000313028.7	37	c.2365C>T	CCDS34960.1																																																																																				0.657	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		4	54	0	0	0	0.000602	0	4	54				
SPATC1	375686	broad.mit.edu	37	8	145095317	145095317	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:145095317C>A	ENST00000377470.3	+	2	821	c.719C>A	c.(718-720)aCt>aAt	p.T240N	SPATC1_ENST00000447830.2_Missense_Mutation_p.T240N	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	240						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.T149N(1)|p.T240N(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGAGGCCCCACTGGGCCCCAG	0.687																																							uc011lkw.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(718-720)ACT>AAT		spermatogenesis and centriole associated 1							14.0	17.0	16.0					8																	145095317		2196	4293	6489	SO:0001583	missense	375686							g.chr8:145095317C>A	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.719C>A	8.37:g.145095317C>A	ENSP00000366690:p.Thr240Asn					SPATC1_uc011lkx.1_Missense_Mutation_p.T240N	p.T240N	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	821	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		240					B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	c.719C>A	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271114	0.23221	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T	0.41758	0.99	3.83	3.83	0.44106	.	1.664320	0.03154	N	0.168416	T	0.28632	0.0709	N	0.08118	0	0.09310	N	1	B;B	0.19200	0.034;0.013	B;B	0.19391	0.025;0.006	T	0.11179	-1.0598	10	0.21014	T	0.42	-3.5786	11.946	0.52928	0.0:1.0:0.0:0.0	.	240;240	B4DWW9;Q76KD6	.;SPERI_HUMAN	N	240	ENSP00000366690:T240N	ENSP00000366690:T240N	T	+	2	0	SPATC1	145167305	0.000000	0.05858	0.004000	0.12327	0.011000	0.07611	0.747000	0.26290	2.057000	0.61298	0.655000	0.94253	ACT		0.687	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		32	13	1	0	1.66425e-11	0.004878	2.23491e-11	32	13				
FREM1	158326	broad.mit.edu	37	9	14797585	14797585	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:14797585T>A	ENST00000380880.3	-	21	4533	c.3750A>T	c.(3748-3750)acA>acT	p.T1250T	FREM1_ENST00000380881.4_Silent_p.T1251T|FREM1_ENST00000422223.2_Silent_p.T1250T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1250					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.T1251T(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACAATTGGATTGTAAAATCAT	0.368																																							uc003zlm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(3748-3750)ACA>ACT		FRAS1 related extracellular matrix 1 precursor							167.0	161.0	163.0					9																	14797585		1898	4120	6018	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14797585T>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3750A>T	9.37:g.14797585T>A						FREM1_uc010mic.2_RNA	p.T1250T	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	21	4340	-			1250			CSPG 8.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.3750A>T	CCDS47952.1																																																																																				0.368	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		60	48	0	0	0	0.00361	0	60	48				
BNC2	54796	broad.mit.edu	37	9	16419108	16419108	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:16419108C>T	ENST00000380672.4	-	7	3236	c.3179G>A	c.(3178-3180)aGa>aAa	p.R1060K	BNC2_ENST00000545497.1_Missense_Mutation_p.R965K|BNC2_ENST00000380667.2_Missense_Mutation_p.R993K	NM_017637.5	NP_060107.3			basonuclin 2									p.R1060K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGCATTTCTCTCAAATGCAC	0.453																																							uc003zml.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3178-3180)AGA>AAA		basonuclin 2							117.0	99.0	105.0					9																	16419108		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16419108C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.3179G>A	9.37:g.16419108C>T	ENSP00000370047:p.Arg1060Lys					BNC2_uc011lmw.1_Missense_Mutation_p.R965K|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.R847K	p.R1060K	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	7	3319	-			1060						Missense_Mutation	SNP	ENST00000380672.4	37	c.3179G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793377	0.70452	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.59906	1.67;0.23;0.23	6.08	6.08	0.98989	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	N	0.25286	0.73	0.80722	D	1	D;P;D	0.61697	0.99;0.956;0.984	D;D;D	0.73380	0.98;0.931;0.935	T	0.57429	-0.7813	10	0.20519	T	0.43	-7.164	20.6721	0.99693	0.0:1.0:0.0:0.0	.	965;1060;825	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	K	1060;993;965	ENSP00000370047:R1060K;ENSP00000370042:R993K;ENSP00000444640:R965K	ENSP00000370042:R993K	R	-	2	0	BNC2	16409108	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	AGA		0.453	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		8	82	0	0	0	0.004482	0	8	82				
IFNB1	3456	broad.mit.edu	37	9	21077760	21077760	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:21077760G>T	ENST00000380232.2	-	1	183	c.109C>A	c.(109-111)Cag>Aag	p.Q37K		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	37					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.Q37K(1)		breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		TTCTGACACTGAAAATTGCTG	0.468																																							uc003zok.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)	3						c.(109-111)CAG>AAG		interferon, beta 1, fibroblast precursor	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)						52.0	52.0	52.0					9																	21077760		2203	4300	6503	SO:0001583	missense	3456				activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	g.chr9:21077760G>T		CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"""Interferons"""	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.109C>A	9.37:g.21077760G>T	ENSP00000369581:p.Gln37Lys						p.Q37K	NM_002176	NP_002167	P01574	IFNB_HUMAN		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	1	184	-			37					Q5VWC9	Missense_Mutation	SNP	ENST00000380232.2	37	c.109C>A	CCDS6495.1	.	.	.	.	.	.	.	.	.	.	G	2.642	-0.284008	0.05642	.	.	ENSG00000171855	ENST00000380232	T	0.03035	4.07	5.42	-0.13	0.13498	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	3.757490	0.00706	N	0.000815	T	0.02929	0.0087	N	0.16130	0.375	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.41893	-0.9483	10	0.30078	T	0.28	5.2915	5.4836	0.16737	0.0:0.4502:0.1508:0.3991	.	37	P01574	IFNB_HUMAN	K	37	ENSP00000369581:Q37K	ENSP00000369581:Q37K	Q	-	1	0	IFNB1	21067760	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.079000	0.14782	0.081000	0.16988	-0.171000	0.13296	CAG		0.468	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1	NM_002176		43	32	1	0	2.64894e-19	0.00361	3.99008e-19	43	32				
NOL6	65083	broad.mit.edu	37	9	33468330	33468330	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:33468330T>A	ENST00000379471.2	-	10	1384	c.1297A>T	c.(1297-1299)Act>Tct	p.T433S	NOL6_ENST00000455041.2_Missense_Mutation_p.T373S|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	433					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T433S(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TGGTGGTAAGTAGAGGCAGTG	0.567																																							uc003zsz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1297-1299)ACT>TCT		nucleolar protein family 6 alpha isoform							68.0	68.0	68.0					9																	33468330		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33468330T>A	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1297A>T	9.37:g.33468330T>A	ENSP00000368784:p.Thr433Ser					SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zta.2_Missense_Mutation_p.T433S|NOL6_uc010mjv.2_Missense_Mutation_p.T430S|NOL6_uc011lob.1_Missense_Mutation_p.T373S|NOL6_uc003ztb.1_Missense_Mutation_p.T433S	p.T433S	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	10	1398	-			433					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.1297A>T		.	.	.	.	.	.	.	.	.	.	T	17.18	3.324132	0.60634	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000325914;ENST00000455041	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.33	5.33	0.75918	.	0.099622	0.64402	D	0.000002	T	0.32406	0.0828	L	0.38175	1.15	0.45250	D	0.998252	P;P;P;P;P	0.45531	0.86;0.831;0.831;0.565;0.86	P;B;B;B;P	0.47075	0.536;0.401;0.401;0.241;0.536	T	0.08827	-1.0703	10	0.02654	T	1	.	14.968	0.71210	0.0:0.0:0.0:1.0	.	373;430;433;433;433	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	S	433;433;433;433;373	ENSP00000313978:T433S;ENSP00000297990:T433S;ENSP00000368784:T433S;ENSP00000395915:T373S	ENSP00000297990:T433S	T	-	1	0	NOL6	33458330	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.646000	0.67916	2.026000	0.59711	0.379000	0.24179	ACT		0.567	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		7	51	0	0	0	0.001984	0	7	51				
UBAP2	55833	broad.mit.edu	37	9	33927878	33927878	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:33927878T>C	ENST00000379238.1	-	20	2405	c.2288A>G	c.(2287-2289)aAc>aGc	p.N763S	UBAP2_ENST00000449054.1_Missense_Mutation_p.N763S|UBAP2_ENST00000360802.1_Missense_Mutation_p.N763S|UBAP2_ENST00000418786.2_3'UTR|UBAP2_ENST00000379235.1_Missense_Mutation_p.N2S|UBAP2_ENST00000379239.4_Missense_Mutation_p.N496S|UBAP2_ENST00000539807.1_Missense_Mutation_p.N518S					ubiquitin associated protein 2									p.N763S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GTTCGCGGTGTTCATGCTACT	0.642																																							uc003ztq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2287-2289)AAC>AGC		ubiquitin associated protein 2							90.0	87.0	88.0					9																	33927878		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33927878T>C	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2288A>G	9.37:g.33927878T>C	ENSP00000368540:p.Asn763Ser					UBAP2_uc011loc.1_Missense_Mutation_p.N672S|UBAP2_uc011lod.1_Missense_Mutation_p.N496S|UBAP2_uc011loe.1_Missense_Mutation_p.N518S|UBAP2_uc011lof.1_Missense_Mutation_p.N688S|UBAP2_uc011log.1_3'UTR|UBAP2_uc003ztn.1_Missense_Mutation_p.N2S|UBAP2_uc003zto.1_Missense_Mutation_p.N2S|UBAP2_uc003ztp.1_Missense_Mutation_p.N2S	p.N763S	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	20	2401	-			763						Missense_Mutation	SNP	ENST00000379238.1	37	c.2288A>G	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	T	8.374	0.835883	0.16820	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.77	4.64	0.57946	.	0.179419	0.64402	N	0.000011	T	0.18841	0.0452	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B	0.15473	0.013;0.005;0.005;0.002;0.001	B;B;B;B;B	0.13407	0.009;0.004;0.007;0.004;0.002	T	0.07028	-1.0794	10	0.12103	T	0.63	-7.0235	7.5007	0.27516	0.0:0.2017:0.0:0.7983	.	688;518;496;672;763	F5H4D5;F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;.;UBAP2_HUMAN	S	763;763;763;672;2;496;518;199	ENSP00000368540:N763S;ENSP00000416932:N763S;ENSP00000354039:N763S;ENSP00000368537:N2S;ENSP00000368541:N496S;ENSP00000439329:N518S	ENSP00000259602:N199S	N	-	2	0	UBAP2	33917878	1.000000	0.71417	0.605000	0.28930	0.053000	0.15095	0.906000	0.28517	1.029000	0.39812	0.533000	0.62120	AAC		0.642	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		14	121	0	0	0	0.007413	0	14	121				
SPATA31A6	389730	broad.mit.edu	37	9	43625488	43625488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:43625488C>A	ENST00000332857.6	-	4	3227	c.3199G>T	c.(3199-3201)Gag>Tag	p.E1067*	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1067					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.E1067*(1)									TCATGTAGCTCCTGGGAAGCC	0.547																																							uc011lrb.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(3199-3201)GAG>TAG		hypothetical protein LOC389730							2.0	2.0	2.0					9																	43625488		461	1227	1688	SO:0001587	stop_gained	389730					integral to membrane		g.chr9:43625488C>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3199G>T	9.37:g.43625488C>A	ENSP00000329825:p.Glu1067*						p.E1067*	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	3228	-			1067						Nonsense_Mutation	SNP	ENST00000332857.6	37	c.3199G>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663735	0.88251	.	.	ENSG00000185775	ENST00000332857	.	.	.	1.81	-3.61	0.04556	.	2.380770	0.01898	N	0.039000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	4.6285	0.12489	0.0:0.405:0.3172:0.2778	.	.	.	.	X	1067	.	ENSP00000329825:E1067X	E	-	1	0	FAM75A6	43565484	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.585000	0.02112	-2.093000	0.00856	-0.890000	0.02929	GAG		0.547	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		94	84	1	0	5.38336e-66	0.00361	9.10185e-66	94	84				
ANKRD20A1	84210	broad.mit.edu	37	9	67968379	67968379	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:67968379G>A	ENST00000377477.2	+	15	2050	c.1938G>A	c.(1936-1938)atG>atA	p.M646I	RP11-195B21.3_ENST00000417488.1_5'Flank	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	646						plasma membrane (GO:0005886)		p.M646I(1)		kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						AAGTAGAAATGAGTTCTGCTA	0.343																																							uc004aeu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1936-1938)ATG>ATA		ankyrin repeat domain 20 family, member A3							84.0	78.0	80.0					9																	67968379		2202	4292	6494	SO:0001583	missense	441425							g.chr9:67968379G>A	AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"""Ankyrin repeat domain containing"""	23665	protein-coding gene	gene with protein product			"""ankyrin repeat domain 20A"""	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.1938G>A	9.37:g.67968379G>A	ENSP00000366697:p.Met646Ile					ANKRD20A3_uc010mnn.2_Missense_Mutation_p.M645I	p.M646I	NM_001012419	NP_001012419	Q5VUR7	A20A3_HUMAN			15	2050	+			646			Potential.		Q9H0H6	Missense_Mutation	SNP	ENST00000377477.2	37	c.1938G>A	CCDS6620.1	.	.	.	.	.	.	.	.	.	.	.	0.670	-0.802394	0.02841	.	.	ENSG00000196774	ENST00000377477	T	0.15603	2.41	1.88	0.916	0.19373	.	.	.	.	.	T	0.12518	0.0304	L	0.55990	1.75	0.19575	N	0.999969	B	0.32409	0.37	B	0.17098	0.017	T	0.26224	-1.0109	9	0.62326	D	0.03	.	3.5063	0.07692	0.4091:0.0:0.5909:0.0	.	646	Q5TYW2	A20A1_HUMAN	I	646	ENSP00000366697:M646I	ENSP00000366697:M646I	M	+	3	0	ANKRD20A1	67558199	0.988000	0.35896	0.073000	0.20177	0.004000	0.04260	0.573000	0.23699	1.071000	0.40834	0.109000	0.15622	ATG		0.343	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1			4	90	0	0	0	0.001168	0	4	90				
CBWD6	644019	broad.mit.edu	37	9	69205514	69205514	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:69205514C>T	ENST00000377457.5	-	14	1129	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	CBWD6_ENST00000382399.4_Missense_Mutation_p.E322K|CBWD6_ENST00000377449.1_Missense_Mutation_p.E306K|CBWD6_ENST00000468061.1_5'UTR	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	342	CobW C-terminal.						ATP binding (GO:0005524)	p.E342K(1)		lung(4)	4						ACTGGAGTCTCCTCCAGATCA	0.423																																							uc004afj.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1024-1026)GAG>AAG		COBW domain containing 6							69.0	58.0	62.0					9																	69205514		2190	4269	6459	SO:0001583	missense	644019						ATP binding	g.chr9:69205514C>T		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.1024G>A	9.37:g.69205514C>T	ENSP00000366677:p.Glu342Lys					CBWD6_uc004afk.3_RNA|CBWD6_uc011lrf.1_RNA	p.E342K	NM_001085457	NP_001078926	Q4V339	CBWD6_HUMAN			14	1130	-			342			CobW C-terminal.			Missense_Mutation	SNP	ENST00000377457.5	37	c.1024G>A	CCDS43827.1	.	.	.	.	.	.	.	.	.	.	.	18.26	3.584265	0.65992	.	.	ENSG00000204790	ENST00000377457;ENST00000377450;ENST00000377449;ENST00000382399	T;T;T	0.17691	2.26;2.26;2.26	2.63	2.63	0.31362	Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal (4);	0.053005	0.85682	D	0.000000	T	0.25494	0.0620	M	0.73372	2.23	0.58432	D	0.999997	P	0.37636	0.603	P	0.44990	0.466	T	0.03922	-1.0992	10	0.40728	T	0.16	-18.7579	10.7134	0.45997	0.0:1.0:0.0:0.0	.	342	Q4V339	CBWD6_HUMAN	K	342;294;306;322	ENSP00000366677:E342K;ENSP00000366668:E306K;ENSP00000371836:E322K	ENSP00000366668:E306K	E	-	1	0	CBWD6	68495334	1.000000	0.71417	0.997000	0.53966	0.705000	0.40729	6.265000	0.72534	1.309000	0.44985	0.175000	0.17021	GAG		0.423	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		30	97	0	0	0	0.009535	0	30	97				
ANKRD20A4	728747	broad.mit.edu	37	9	69423642	69423642	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:69423642G>A	ENST00000357336.3	+	15	2219	c.1938G>A	c.(1936-1938)atG>atA	p.M646I		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	646								p.M646I(1)		breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AAGTAGAAATGAGTTCTGCTA	0.333																																							uc004afn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1936-1938)ATG>ATA		ankyrin repeat domain 20 family, member A4							8.0	14.0	12.0					9																	69423642		1649	3683	5332	SO:0001583	missense	728747							g.chr9:69423642G>A		CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1938G>A	9.37:g.69423642G>A	ENSP00000349891:p.Met646Ile					uc010mnx.1_5'Flank	p.M646I	NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN			15	2050	+			646			Potential.			Missense_Mutation	SNP	ENST00000357336.3	37	c.1938G>A	CCDS43828.1	.	.	.	.	.	.	.	.	.	.	G	0.303	-0.972505	0.02215	.	.	ENSG00000172014	ENST00000357336	T	0.15603	2.41	2.26	0.261	0.15592	.	.	.	.	.	T	0.14056	0.0340	L	0.55990	1.75	0.19300	N	0.999975	B	0.02656	0.0	B	0.01281	0.0	T	0.32508	-0.9904	9	0.56958	D	0.05	.	2.5549	0.04757	0.3002:0.2804:0.4194:0.0	.	646	Q4UJ75	A20A4_HUMAN	I	646	ENSP00000349891:M646I	ENSP00000349891:M646I	M	+	3	0	ANKRD20A4	68713462	0.956000	0.32656	0.096000	0.21009	0.003000	0.03518	0.424000	0.21330	0.280000	0.22209	-1.254000	0.01491	ATG		0.333	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143287.3	NM_001098805		4	75	0	0	0	0.009096	0	4	75				
SMC5	23137	broad.mit.edu	37	9	72965329	72965329	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:72965329T>G	ENST00000361138.5	+	24	3165	c.3107T>G	c.(3106-3108)aTg>aGg	p.M1036R	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	1036					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.M1036R(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GTGTTTGAAATGGTTGTAAAT	0.328																																							uc004ahr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3106-3108)ATG>AGG		SMC5 protein							132.0	120.0	124.0					9																	72965329		2203	4300	6503	SO:0001583	missense	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72965329T>G	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.3107T>G	9.37:g.72965329T>G	ENSP00000354957:p.Met1036Arg					SMC5_uc011lry.1_Missense_Mutation_p.M181R	p.M1036R	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN			24	3224	+			1036					A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	c.3107T>G	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.509848	0.85282	.	.	ENSG00000198887	ENST00000361138	T	0.68181	-0.31	5.82	5.82	0.92795	RecF/RecN/SMC (1);	0.040660	0.85682	D	0.000000	T	0.72145	0.3424	L	0.34521	1.04	0.58432	D	0.999999	D	0.69078	0.997	D	0.64506	0.926	T	0.70274	-0.4917	10	0.32370	T	0.25	-15.7562	16.1761	0.81851	0.0:0.0:0.0:1.0	.	1036	Q8IY18	SMC5_HUMAN	R	1036	ENSP00000354957:M1036R	ENSP00000354957:M1036R	M	+	2	0	SMC5	72155149	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.598000	0.82745	2.229000	0.72834	0.397000	0.26171	ATG		0.328	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		9	85	0	0	0	0.004482	0	9	85				
RORB	6096	broad.mit.edu	37	9	77257434	77257434	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:77257434G>T	ENST00000396204.2	+	4	373	c.373G>T	c.(373-375)Gag>Tag	p.E125*	RORB_ENST00000376896.3_Nonsense_Mutation_p.E114*			Q92753	RORB_HUMAN	RAR-related orphan receptor B	125	Hinge. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.E114*(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	gcagAGTGGGGAGGCAGAAGC	0.587																																							uc004aji.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(373-375)GAG>TAG		RAR-related orphan receptor B							81.0	70.0	73.0					9																	77257434		2203	4300	6503	SO:0001587	stop_gained	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77257434G>T	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.373G>T	9.37:g.77257434G>T	ENSP00000379507:p.Glu125*					RORB_uc004ajh.2_Nonsense_Mutation_p.E114*	p.E125*	NM_006914	NP_008845	Q92753	RORB_HUMAN			4	422	+			125			Hinge (Potential).		Q8WX73	Nonsense_Mutation	SNP	ENST00000396204.2	37	c.373G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.379428	0.97520	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	.	.	.	5.63	5.63	0.86233	.	0.283189	0.44483	D	0.000444	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	.	.	.	X	114;125	.	ENSP00000366093:E114X	E	+	1	0	RORB	76447254	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.652000	0.90054	0.655000	0.94253	GAG		0.587	RORB-201	KNOWN	basic	protein_coding	protein_coding				22	19	1	0	2.65835e-16	0.007291	3.87421e-16	22	19				
TRPM6	140803	broad.mit.edu	37	9	77376931	77376931	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:77376931C>T	ENST00000360774.1	-	26	4893	c.4656G>A	c.(4654-4656)aaG>aaA	p.K1552K	TRPM6_ENST00000361255.3_Silent_p.K1547K|TRPM6_ENST00000449912.2_Silent_p.K1547K|TRPM6_ENST00000451710.3_Silent_p.K1552K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.K1552K|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1552					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.K1552K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCTTACAGATCTTCATCAATT	0.348																																							uc004ajl.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(4654-4656)AAG>AAA		transient receptor potential cation channel,							68.0	70.0	69.0					9																	77376931		2200	4297	6497	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77376931C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4656G>A	9.37:g.77376931C>T						TRPM6_uc004ajk.1_Silent_p.K1547K|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.K508K	p.K1552K	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			26	4894	-			1552			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.4656G>A	CCDS6647.1																																																																																				0.348	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		14	51	0	0	0	0.00245	0	14	51				
GCNT1	2650	broad.mit.edu	37	9	79118035	79118035	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:79118035G>A	ENST00000376730.4	+	4	1221	c.738G>A	c.(736-738)agG>agA	p.R246R	GCNT1_ENST00000442371.1_Silent_p.R246R|GCNT1_ENST00000444201.2_Silent_p.R246R|GCNT1_ENST00000536223.1_Silent_p.R246R	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	246	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.R246R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						AAACGGAGAGGATGCCATCCC	0.418																																							uc010mpf.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(736-738)AGG>AGA		beta-1,3-galactosyl-O-glycosyl-glycoprotein							74.0	65.0	68.0					9																	79118035		2203	4300	6503	SO:0001819	synonymous_variant	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79118035G>A	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.738G>A	9.37:g.79118035G>A						GCNT1_uc010mpg.2_Silent_p.R246R|GCNT1_uc010mph.2_Silent_p.R246R|GCNT1_uc004akf.3_Silent_p.R246R|GCNT1_uc010mpi.2_Silent_p.R246R|GCNT1_uc004akh.3_Silent_p.R246R	p.R246R	NM_001490	NP_001481	Q02742	GCNT1_HUMAN			3	1079	+			246			Lumenal (Potential).|Catalytic (By similarity).		Q6DJZ4	Silent	SNP	ENST00000376730.4	37	c.738G>A	CCDS6653.1																																																																																				0.418	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		13	81	0	0	0	0.00245	0	13	81				
PRUNE2	158471	broad.mit.edu	37	9	79465437	79465437	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:79465437G>C	ENST00000376718.3	-	3	409	c.286C>G	c.(286-288)Cag>Gag	p.Q96E	PRUNE2_ENST00000376713.3_Missense_Mutation_p.Q96E|PRUNE2_ENST00000428286.1_De_novo_Start_OutOfFrame	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	96					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.Q96E(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCATTTAGCTGATGCAGGTTA	0.408																																							uc010mpk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(286-288)CAG>GAG		prune homolog 2							148.0	145.0	146.0					9																	79465437		2203	4300	6503	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79465437G>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.286C>G	9.37:g.79465437G>C	ENSP00000365908:p.Gln96Glu					PRUNE2_uc004akn.2_Missense_Mutation_p.Q96E	p.Q96E	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			3	410	-			96					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.286C>G	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	2.560	-0.302056	0.05495	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T;T	0.14516	2.5;2.5	5.78	4.86	0.63082	.	0.566282	0.17564	N	0.169706	T	0.12347	0.0300	L	0.46157	1.445	0.80722	D	1	B;B	0.27498	0.18;0.008	B;B	0.20577	0.03;0.003	T	0.04242	-1.0966	10	0.02654	T	1	.	16.6306	0.85032	0.0:0.1301:0.8699:0.0	.	96;96	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	E	96;95;96	ENSP00000365908:Q96E;ENSP00000365903:Q96E	ENSP00000365903:Q96E	Q	-	1	0	PRUNE2	78655257	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	4.187000	0.58344	1.385000	0.46445	0.650000	0.86243	CAG		0.408	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		106	78	0	0	0	0.00361	0	106	78				
SPATA31D1	389763	broad.mit.edu	37	9	84607685	84607685	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:84607685A>G	ENST00000344803.2	+	4	2347	c.2300A>G	c.(2299-2301)gAg>gGg	p.E767G		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	767					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.E767G(2)									CTTTCCATGGAGAATGTGGGG	0.478																																							uc004amn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2299-2301)GAG>GGG		hypothetical protein LOC389763							67.0	63.0	64.0					9																	84607685		1857	4096	5953	SO:0001583	missense	389763					integral to membrane		g.chr9:84607685A>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2300A>G	9.37:g.84607685A>G	ENSP00000341988:p.Glu767Gly						p.E767G	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	2347	+			767						Missense_Mutation	SNP	ENST00000344803.2	37	c.2300A>G	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	12.37	1.918292	0.33908	.	.	ENSG00000214929	ENST00000344803	T	0.08807	3.05	2.98	0.534	0.17127	.	1.477630	0.04625	N	0.402594	T	0.13798	0.0334	M	0.78637	2.42	0.09310	N	1	B	0.20052	0.041	B	0.27262	0.078	T	0.39375	-0.9617	10	0.45353	T	0.12	0.0198	4.5925	0.12313	0.6679:0.0:0.3321:0.0	.	767	Q6ZQQ2	F75D1_HUMAN	G	767	ENSP00000341988:E767G	ENSP00000341988:E767G	E	+	2	0	FAM75D1	83797505	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	0.337000	0.19841	0.102000	0.17638	0.459000	0.35465	GAG		0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		40	38	0	0	0	0.00361	0	40	38				
SLC28A3	64078	broad.mit.edu	37	9	86912205	86912205	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:86912205C>T	ENST00000376238.4	-	8	841	c.792G>A	c.(790-792)ctG>ctA	p.L264L	SLC28A3_ENST00000537648.1_Silent_p.L195L	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	264					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)	p.L264L(1)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	CTGTGTACTCCAGAAAAGTCT	0.403																																					Ovarian(106;425 1539 34835 42413 43572)	Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(790-792)CTG>CTA		concentrative Na+-nucleoside cotransporter							58.0	60.0	59.0					9																	86912205		2203	4300	6503	SO:0001819	synonymous_variant	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86912205C>T	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.792G>A	9.37:g.86912205C>T						SLC28A3_uc011lsy.1_Silent_p.L195L|SLC28A3_uc004anu.1_Silent_p.L264L|SLC28A3_uc010mqb.2_Silent_p.L195L	p.L264L	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN			8	917	-			264			Extracellular (Potential).		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Silent	SNP	ENST00000376238.4	37	c.792G>A	CCDS6670.1																																																																																				0.403	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		8	59	0	0	0	0.004482	0	8	59				
C9orf170	401535	broad.mit.edu	37	9	89771610	89771610	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:89771610T>C	ENST00000375941.2	+	2	378	c.291T>C	c.(289-291)acT>acC	p.T97T		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	97								p.T97T(1)		large_intestine(3)|lung(2)|prostate(1)	6						TAGATGTCACTCGGGAAGACC	0.403																																							uc004apa.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(289-291)ACT>ACC		hypothetical protein LOC401535							82.0	79.0	80.0					9																	89771610		2203	4300	6503	SO:0001819	synonymous_variant	401535							g.chr9:89771610T>C	AK127445	CCDS35058.1	9q21.33	2009-02-11			ENSG00000204446	ENSG00000204446			33817	protein-coding gene	gene with protein product							Standard	NM_001001709		Approved	FLJ45537	uc004apa.1	A2RU37	OTTHUMG00000159587	ENST00000375941.2:c.291T>C	9.37:g.89771610T>C							p.T97T	NM_001001709	NP_001001709	A2RU37	CI170_HUMAN			2	378	+			97						Silent	SNP	ENST00000375941.2	37	c.291T>C	CCDS35058.1																																																																																				0.403	C9orf170-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356346.1	NM_001001709		11	62	0	0	0	0.003163	0	11	62				
SUSD3	203328	broad.mit.edu	37	9	95841860	95841860	+	Missense_Mutation	SNP	C	C	T	rs202073425		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:95841860C>T	ENST00000375472.3	+	4	569	c.533C>T	c.(532-534)gCg>gTg	p.A178V	SUSD3_ENST00000375469.1_Missense_Mutation_p.A165V	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	178						integral component of membrane (GO:0016021)		p.A178V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						CCCAGCCAGGCGCACGACAAC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		20091	0.0		0.001	False		,,,				2504	0.0						uc004atb.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|skin(2)|ovary(1)|lung(1)	6						c.(532-534)GCG>GTG		sushi domain containing 3							55.0	52.0	53.0					9																	95841860		2203	4300	6503	SO:0001583	missense	203328					integral to membrane		g.chr9:95841860C>T	AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.533C>T	9.37:g.95841860C>T	ENSP00000364621:p.Ala178Val					SUSD3_uc004atc.2_Missense_Mutation_p.A165V	p.A178V	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN			4	569	+			178			Cytoplasmic (Potential).		Q49AA6|Q6UXV7	Missense_Mutation	SNP	ENST00000375472.3	37	c.533C>T	CCDS6701.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.583	0.108286	0.08780	.	.	ENSG00000157303	ENST00000375472;ENST00000375469	T;T	0.61510	0.1;0.51	5.15	3.32	0.38043	.	0.468479	0.23618	N	0.046266	T	0.44244	0.1284	L	0.40543	1.245	0.24969	N	0.991679	P;P	0.50710	0.938;0.897	B;B	0.40375	0.327;0.175	T	0.33137	-0.9880	10	0.42905	T	0.14	-22.1978	8.3996	0.32579	0.0:0.8159:0.0:0.1841	.	165;178	Q96L08-2;Q96L08	.;SUSD3_HUMAN	V	178;165	ENSP00000364621:A178V;ENSP00000364618:A165V	ENSP00000364618:A165V	A	+	2	0	SUSD3	94881681	0.588000	0.26799	0.289000	0.24876	0.066000	0.16364	0.758000	0.26447	0.833000	0.34828	0.650000	0.86243	GCG		0.647	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053120.1	NM_145006		13	34	0	0	0	0.00245	0	13	34				
GRIN3A	116443	broad.mit.edu	37	9	104432860	104432860	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:104432860G>T	ENST00000361820.3	-	3	2434	c.1834C>A	c.(1834-1836)Cac>Aac	p.H612N		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	612					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.H612N(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CCAGTCCAGTGCCCATTTTTC	0.468																																							uc004bbp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1834-1836)CAC>AAC		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						94.0	80.0	85.0					9																	104432860		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432860G>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1834C>A	9.37:g.104432860G>T	ENSP00000355155:p.His612Asn					GRIN3A_uc004bbq.1_Missense_Mutation_p.H612N	p.H612N	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			3	2435	-		Acute lymphoblastic leukemia(62;0.0568)	612			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1834C>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784756	0.49997	.	.	ENSG00000198785	ENST00000361820	T	0.25414	1.8	5.72	5.72	0.89469	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.056728	0.64402	D	0.000001	T	0.15219	0.0367	N	0.01464	-0.85	0.58432	D	0.999999	B	0.28026	0.198	B	0.36845	0.234	T	0.34304	-0.9834	10	0.25751	T	0.34	.	20.3236	0.98685	0.0:0.0:1.0:0.0	.	612	Q8TCU5	NMD3A_HUMAN	N	612	ENSP00000355155:H612N	ENSP00000355155:H612N	H	-	1	0	GRIN3A	103472681	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.810000	0.99221	2.876000	0.98609	0.644000	0.83932	CAC		0.468	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			49	46	1	0	9.58827e-17	0.00361	1.41073e-16	49	46				
CYLC2	1539	broad.mit.edu	37	9	105765459	105765459	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:105765459C>T	ENST00000374798.3	+	3	164	c.94C>T	c.(94-96)Cac>Tac	p.H32Y	CYLC2_ENST00000487798.1_Missense_Mutation_p.H32Y	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	32	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.H32Y(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GAATCAGCAACACTTTGCCCT	0.393																																							uc004bbs.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(94-96)CAC>TAC		cylicin 2							125.0	114.0	118.0					9																	105765459		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105765459C>T	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.94C>T	9.37:g.105765459C>T	ENSP00000420256:p.His32Tyr						p.H32Y	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			3	164	+		all_hematologic(171;0.125)	32			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.94C>T	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350313	0.24512	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.13538	2.58;2.58	4.81	1.94	0.25998	.	0.312832	0.23309	N	0.049589	T	0.06781	0.0173	N	0.12746	0.255	0.23287	N	0.997976	P	0.40970	0.734	B	0.42555	0.391	T	0.31166	-0.9953	10	0.10377	T	0.69	-4.5379	6.4539	0.21918	0.0:0.6876:0.0:0.3124	.	32	Q14093	CYLC2_HUMAN	Y	32	ENSP00000420256:H32Y;ENSP00000417674:H32Y	ENSP00000420256:H32Y	H	+	1	0	CYLC2	104805280	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.318000	0.19504	0.331000	0.23511	0.585000	0.79938	CAC		0.393	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		24	109	0	0	0	0.00632	0	24	109				
FAM206A	54942	broad.mit.edu	37	9	111701527	111701527	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:111701527G>C	ENST00000322940.6	+	4	619	c.313G>C	c.(313-315)Gat>Cat	p.D105H	FAM206A_ENST00000374624.3_Intron	NM_017832.3	NP_060302.1	Q9NX38	F206A_HUMAN	family with sequence similarity 206, member A	105						nucleus (GO:0005634)		p.D105H(1)									TTACTGCTCAGATGGTGAAGA	0.378																																							uc004bdn.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(313-315)GAT>CAT		hypothetical protein LOC54942							90.0	90.0	90.0					9																	111701527		2203	4300	6503	SO:0001583	missense	54942				glycine catabolic process	glycine cleavage complex		g.chr9:111701527G>C	BC015795	CCDS6774.1	9q31	2011-08-15	2011-08-15	2011-08-15	ENSG00000119328	ENSG00000119328			1364	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 6"""	C9orf6			Standard	NM_017832		Approved	CG-8, FLJ20457	uc004bdn.3	Q9NX38	OTTHUMG00000020467	ENST00000322940.6:c.313G>C	9.37:g.111701527G>C	ENSP00000363753:p.Asp105His					C9orf6_uc010mtr.2_RNA	p.D105H	NM_017832	NP_060302	Q9NX38	CI006_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.58e-07)	4	407	+		Myeloproliferative disorder(63;0.0511)	105					Q5JTR0|Q5JTR1	Missense_Mutation	SNP	ENST00000322940.6	37	c.313G>C	CCDS6774.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722130	0.89298	.	.	ENSG00000119328	ENST00000322940;ENST00000445175	T;T	0.47528	0.84;0.84	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.73969	0.3655	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76553	-0.2917	10	0.62326	D	0.03	.	18.0887	0.89466	0.0:0.0:1.0:0.0	.	105	Q9NX38	F206A_HUMAN	H	105;70	ENSP00000363753:D105H;ENSP00000398018:D70H	ENSP00000363753:D105H	D	+	1	0	C9orf6	110741348	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.942000	0.75928	2.873000	0.98535	0.563000	0.77884	GAT		0.378	FAM206A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053582.1	NM_017832		22	54	0	0	0	0.00632	0	22	54				
TLR4	7099	broad.mit.edu	37	9	120476798	120476798	+	Nonsense_Mutation	SNP	G	G	T	rs200020265	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:120476798G>T	ENST00000355622.6	+	3	2493	c.2392G>T	c.(2392-2394)Gag>Tag	p.E798*	TLR4_ENST00000394487.4_Nonsense_Mutation_p.E758*|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	798	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				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.E798*(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)	CCTGGAGTGGGAGGACAGTGT	0.542																																							uc004bjz.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(2392-2394)GAG>TAG		toll-like receptor 4 precursor							89.0	91.0	90.0					9																	120476798		2203	4300	6503	SO:0001587	stop_gained	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.chr9:120476798G>T	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.2392G>T	9.37:g.120476798G>T	ENSP00000363089:p.Glu798*					TLR4_uc004bka.2_Nonsense_Mutation_p.E758*|TLR4_uc004bkb.2_Nonsense_Mutation_p.E598*	p.E798*	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	2683	+			798			Cytoplasmic (Potential).|TIR.		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Nonsense_Mutation	SNP	ENST00000355622.6	37	c.2392G>T	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	39	7.545680	0.98348	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	.	.	.	6.01	6.01	0.97437	.	0.159691	0.43919	D	0.000504	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	6.462	0.21962	0.1447:0.1626:0.6928:0.0	.	.	.	.	X	758;798	.	ENSP00000363089:E798X	E	+	1	0	TLR4	119516619	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.233000	0.65337	2.852000	0.98041	0.643000	0.83706	GAG		0.542	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		23	149	1	0	1.74807e-11	0.002096	2.34163e-11	23	149				
PTGS1	5742	broad.mit.edu	37	9	125141116	125141116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:125141116G>T	ENST00000362012.2	+	5	420	c.415G>T	c.(415-417)Gag>Tag	p.E139*	PTGS1_ENST00000373698.5_Nonsense_Mutation_p.E30*|PTGS1_ENST00000223423.4_Nonsense_Mutation_p.E139*|PTGS1_ENST00000540753.1_Nonsense_Mutation_p.E114*	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	139					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.E139*(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CATCAGCTGGGAGTCTTTCTC	0.517																																							uc004bmg.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(415-417)GAG>TAG		prostaglandin-endoperoxide synthase 1 isoform 1	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						147.0	127.0	134.0					9																	125141116		2203	4300	6503	SO:0001587	stop_gained	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125141116G>T	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.415G>T	9.37:g.125141116G>T	ENSP00000354612:p.Glu139*					PTGS1_uc011lys.1_Nonsense_Mutation_p.E114*|PTGS1_uc010mwb.1_Nonsense_Mutation_p.E30*|PTGS1_uc004bmf.1_Nonsense_Mutation_p.E139*|PTGS1_uc004bmh.1_Nonsense_Mutation_p.E30*|PTGS1_uc011lyt.1_Nonsense_Mutation_p.E30*	p.E139*	NM_000962	NP_000953	P23219	PGH1_HUMAN			5	550	+			139					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Nonsense_Mutation	SNP	ENST00000362012.2	37	c.415G>T	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	37	6.530418	0.97641	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000426608;ENST00000373698	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.8707	18.588	0.91197	0.0:0.0:1.0:0.0	.	.	.	.	X	114;139;139;97;30	.	ENSP00000223423:E139X	E	+	1	0	PTGS1	124180937	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.809000	0.99208	2.633000	0.89246	0.655000	0.94253	GAG		0.517	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			46	46	1	0	7.05377e-20	0.00361	1.06848e-19	46	46				
GOLGA2	2801	broad.mit.edu	37	9	131020133	131020133	+	Silent	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:131020133C>G	ENST00000421699.2	-	23	2478	c.2466G>C	c.(2464-2466)ctG>ctC	p.L822L	GOLGA2_ENST00000609374.1_Silent_p.L810L|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	822					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.L810L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCCTCTCCTTCAGGTCTGCCT	0.572																																							uc011maw.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2464-2466)CTG>CTC		Golgi autoantigen, golgin subfamily a, 2							306.0	301.0	303.0					9																	131020133		2203	4300	6503	SO:0001819	synonymous_variant	2801					Golgi cisterna membrane	protein binding	g.chr9:131020133C>G	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2466G>C	9.37:g.131020133C>G						GOLGA2_uc010mxw.2_Silent_p.L145L|GOLGA2_uc004buh.2_Silent_p.L295L	p.L822L	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			23	2479	-			822			Potential.		Q6GRM9|Q9BRB0|Q9NYF9	Silent	SNP	ENST00000421699.2	37	c.2466G>C	CCDS6896.2																																																																																				0.572	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		57	572	0	0	0	0.00361	0	57	572				
PKN3	29941	broad.mit.edu	37	9	131479051	131479051	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:131479051G>C	ENST00000291906.4	+	16	2227	c.1834G>C	c.(1834-1836)Gag>Cag	p.E612Q	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	612	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)	p.E612Q(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GCGGATCCTGGAGGCTGTGGG	0.587																																							uc004bvw.2		NA																	1	Substitution - Missense(1)		lung(1)	stomach(2)|lung(2)	4						c.(1834-1836)GAG>CAG		protein kinase PKNbeta							178.0	144.0	155.0					9																	131479051		2203	4300	6503	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131479051G>C	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1834G>C	9.37:g.131479051G>C	ENSP00000291906:p.Glu612Gln					PKN3_uc010myh.2_Missense_Mutation_p.E612Q|PKN3_uc011mbk.1_Missense_Mutation_p.E162Q	p.E612Q	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN			16	2227	+			612			Protein kinase.		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.1834G>C	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206101	0.58234	.	.	ENSG00000160447	ENST00000291906	T	0.65364	-0.15	5.44	4.53	0.55603	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.46889	0.1416	N	0.05441	-0.05	0.58432	D	0.999996	B	0.31655	0.334	B	0.37888	0.26	T	0.49283	-0.8956	9	0.42905	T	0.14	.	13.9335	0.64010	0.0:0.1535:0.8465:0.0	.	612	Q6P5Z2	PKN3_HUMAN	Q	612	ENSP00000291906:E612Q	ENSP00000291906:E612Q	E	+	1	0	PKN3	130518872	1.000000	0.71417	0.999000	0.59377	0.888000	0.51559	6.044000	0.71012	1.260000	0.44134	0.558000	0.71614	GAG		0.587	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		22	174	0	0	0	0.00333	0	22	174				
LAMC3	10319	broad.mit.edu	37	9	133967067	133967067	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:133967067C>A	ENST00000361069.4	+	28	4754	c.4621C>A	c.(4621-4623)Ctg>Atg	p.L1541M	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1541	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.L1541M(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCAGCAGGAGCTGCAGATCCA	0.627																																							uc004caa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(4621-4623)CTG>ATG		laminin, gamma 3 precursor							36.0	38.0	37.0					9																	133967067		2202	4300	6502	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133967067C>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.4621C>A	9.37:g.133967067C>A	ENSP00000354360:p.Leu1541Met					LAMC3_uc010mze.1_Missense_Mutation_p.L229M	p.L1541M	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	28	4719	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1541			Domain II and I.|Potential.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.4621C>A	CCDS6938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.44|19.44	3.827750|3.827750	0.71143|0.71143	.|.	.|.	ENSG00000050555|ENSG00000050555	ENST00000361069;ENST00000355048|ENST00000320021;ENST00000355452	T|.	0.27720|.	1.65|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.232976|.	0.28958|.	N|.	0.013595|.	T|T	0.60090|0.60090	0.2242|0.2242	M|M	0.67953|0.67953	2.075|2.075	0.29171|0.29171	N|N	0.877146|0.877146	D;D|.	0.69078|.	0.997;0.963|.	D;P|.	0.66497|.	0.944;0.719|.	T|T	0.60414|0.60414	-0.7268|-0.7268	10|6	0.48119|0.72032	T|D	0.1|0.01	.|.	14.309|14.309	0.66403|0.66403	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	222;1541|.	Q9UF61;Q9Y6N6|.	.;LAMC3_HUMAN|.	M|R	1541;1553|478;222	ENSP00000354360:L1541M|.	ENSP00000347156:L1553M|ENSP00000325873:S478R	L|S	+|+	1|3	2|2	LAMC3|LAMC3	132956888|132956888	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	2.869000|2.869000	0.48444|0.48444	2.448000|2.448000	0.82819|0.82819	0.655000|0.655000	0.94253|0.94253	CTG|AGC		0.627	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		11	8	1	0	9.31168e-06	0.001855	1.06462e-05	11	8				
CEL	1056	broad.mit.edu	37	9	135940545	135940545	+	Silent	SNP	C	C	T	rs368097381		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:135940545C>T	ENST00000372080.4	+	4	484	c.468C>T	c.(466-468)cgC>cgT	p.R156R	CEL_ENST00000351304.7_Silent_p.R153R	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	153					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)	p.R156R(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TCGCCACACGCGGAAACGTCA	0.607																																							uc010naa.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(466-468)CGC>CGT		carboxyl ester lipase precursor		T		0,4292		0,0,2146	181.0	194.0	190.0		468	-10.3	0.0	9		190	1,8503		0,1,4251	no	coding-synonymous	CEL	NM_001807.3		0,1,6397	TT,TC,CC		0.0118,0.0,0.0078		156/757	135940545	1,12795	2146	4252	6398	SO:0001819	synonymous_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135940545C>T	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.468C>T	9.37:g.135940545C>T							p.R156R	NM_001807	NP_001798	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	4	484	+			153					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	ENST00000372080.4	37	c.468C>T	CCDS43896.1																																																																																				0.607	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			71	326	0	0	0	0.00361	0	71	326				
SURF6	6838	broad.mit.edu	37	9	136198874	136198874	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:136198874C>T	ENST00000372022.4	-	5	1182	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	306					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R306Q(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CTTCTCCCACCGGCGCTGCCG	0.711																																							uc004cdb.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(916-918)CGG>CAG		surfeit 6							23.0	22.0	23.0					9																	136198874		2203	4299	6502	SO:0001583	missense	6838					granular component	DNA binding|RNA binding	g.chr9:136198874C>T	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.917G>A	9.37:g.136198874C>T	ENSP00000361092:p.Arg306Gln						p.R306Q	NM_006753	NP_006744	O75683	SURF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)	5	995	-			306					Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Missense_Mutation	SNP	ENST00000372022.4	37	c.917G>A	CCDS6962.1	.	.	.	.	.	.	.	.	.	.	C	6.743	0.505856	0.12822	.	.	ENSG00000148296	ENST00000372022	T	0.12984	2.63	5.15	-6.09	0.02145	.	1.143420	0.06543	N	0.743645	T	0.03871	0.0109	N	0.01219	-0.95	0.09310	N	1	B	0.18968	0.032	B	0.12156	0.007	T	0.47142	-0.9140	10	0.14252	T	0.57	-0.0887	10.1046	0.42526	0.0:0.1955:0.1011:0.7034	.	306	O75683	SURF6_HUMAN	Q	306	ENSP00000361092:R306Q	ENSP00000361092:R306Q	R	-	2	0	SURF6	135188695	0.000000	0.05858	0.000000	0.03702	0.546000	0.35178	-0.424000	0.07025	-1.509000	0.01798	-0.362000	0.07510	CGG		0.711	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		9	24	0	0	0	0.001368	0	9	24				
FCN1	2219	broad.mit.edu	37	9	137801797	137801797	+	Silent	SNP	T	T	A	rs576110383		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:137801797T>A	ENST00000371806.3	-	9	919	c.828A>T	c.(826-828)ggA>ggT	p.G276G		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	276	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.G276G(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		ACCACCAGGCTCCTTGGAACT	0.498																																							uc004cfi.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(826-828)GGA>GGT		ficolin 1 precursor							187.0	182.0	184.0					9																	137801797		2203	4300	6503	SO:0001819	synonymous_variant	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137801797T>A	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.828A>T	9.37:g.137801797T>A							p.G276G	NM_002003	NP_001994	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	9	920	-		Myeloproliferative disorder(178;0.0333)	276			Fibrinogen C-terminal.		Q5VYV5|Q92596	Silent	SNP	ENST00000371806.3	37	c.828A>T	CCDS6985.1																																																																																				0.498	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		23	211	0	0	0	0.00278	0	23	211				
ANAPC2	29882	broad.mit.edu	37	9	140075363	140075364	+	Missense_Mutation	DNP	CG	CG	AA			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:140075363_140075364CG>AA	ENST00000323927.2	-	8	1490_1491	c.1486_1487CG>TT	c.(1486-1488)CGg>TTg	p.R496L		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	496					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.R496L(1)|p.R496Q(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CGATGAACGCCGCTTGGAGCTC	0.649																																							uc004clr.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(1486-1488)CGG>TTG		anaphase-promoting complex subunit 2																																				SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140075363_140075364CG>AA	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1486_1487delinsAA	9.37:g.140075363_140075364delinsAA	ENSP00000314004:p.Arg496Leu					ANAPC2_uc004clq.1_Missense_Mutation_p.R352L	p.R496L	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	8	1559_1560	-	all_cancers(76;0.0926)		496					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	DNP	ENST00000323927.2	37	c.1486_1487CG>TT	CCDS7033.1																																																																																				0.649	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		69	42	0	0	0	0.004672	0	69	42				
MXRA5	25878	broad.mit.edu	37	X	3242297	3242297	+	Missense_Mutation	SNP	C	C	G	rs149921437		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:3242297C>G	ENST00000217939.6	-	5	1583	c.1429G>C	c.(1429-1431)Gta>Cta	p.V477L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	477						extracellular vesicular exosome (GO:0070062)		p.V477L(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCAATCATTACCCAGCTTCTG	0.507																																							uc004crg.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(1429-1431)GTA>CTA		adlican precursor							116.0	107.0	110.0					X																	3242297		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3242297C>G	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1429G>C	X.37:g.3242297C>G	ENSP00000217939:p.Val477Leu						p.V477L	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	1586	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	477					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.1429G>C	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266586	0.40095	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68765	-0.35	3.63	3.63	0.41609	.	0.000000	0.36338	U	0.002657	T	0.71567	0.3355	M	0.74881	2.28	0.29013	N	0.886734	D	0.52996	0.957	P	0.50352	0.638	T	0.70153	-0.4950	10	0.62326	D	0.03	.	10.9664	0.47414	0.0:0.8999:0.0:0.1001	.	477	Q9NR99	MXRA5_HUMAN	L	477	ENSP00000217939:V477L	ENSP00000217939:V477L	V	-	1	0	MXRA5	3252297	1.000000	0.71417	0.922000	0.36590	0.250000	0.25880	3.666000	0.54540	1.439000	0.47511	0.431000	0.28591	GTA		0.507	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		3	173	0	0	0	0.004672	0	3	173				
MXRA5	25878	broad.mit.edu	37	X	3248372	3248372	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:3248372C>A	ENST00000217939.6	-	4	550	c.396G>T	c.(394-396)ctG>ctT	p.L132L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	132						extracellular vesicular exosome (GO:0070062)		p.L132L(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTCAATGTGCAGCCTCATTA	0.478																																							uc004crg.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(394-396)CTG>CTT		adlican precursor							98.0	82.0	88.0					X																	3248372		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3248372C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.396G>T	X.37:g.3248372C>A							p.L132L	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			4	553	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	132			LRR 4.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.396G>T	CCDS14124.1																																																																																				0.478	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		7	27	1	0	7.48243e-07	0.006214	8.88487e-07	7	27				
NLGN4X	57502	broad.mit.edu	37	X	5821357	5821357	+	Silent	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:5821357C>G	ENST00000381095.3	-	5	1989	c.1362G>C	c.(1360-1362)gtG>gtC	p.V454V	NLGN4X_ENST00000381092.1_Silent_p.V454V|NLGN4X_ENST00000381093.2_Silent_p.V474V|NLGN4X_ENST00000275857.6_Silent_p.V454V|NLGN4X_ENST00000538097.1_Silent_p.V454V	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	454					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.V454V(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGGCGGTGGCCACGGCGGGGG	0.602																																							uc010ndh.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(1360-1362)GTG>GTC		X-linked neuroligin 4 precursor							24.0	25.0	25.0					X																	5821357		2202	4295	6497	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821357C>G	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1362G>C	X.37:g.5821357C>G						NLGN4X_uc004crp.2_Silent_p.V474V|NLGN4X_uc004crq.2_Silent_p.V454V|NLGN4X_uc010ndi.2_Silent_p.V491V|NLGN4X_uc004crr.2_Silent_p.V454V|NLGN4X_uc010ndj.2_Silent_p.V454V	p.V454V	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			5	1863	-			454			Extracellular (Potential).		Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.1362G>C	CCDS14126.1																																																																																				0.602	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		9	17	0	0	0	0.003163	0	9	17				
TLR7	51284	broad.mit.edu	37	X	12904107	12904107	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:12904107C>T	ENST00000380659.3	+	3	619	c.480C>T	c.(478-480)atC>atT	p.I160I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	160					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|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 NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.I160I(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CCAACAACATCTTTTCCATCA	0.418																																							uc004cvc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(478-480)ATC>ATT		toll-like receptor 7 precursor	Imiquimod(DB00724)						45.0	46.0	46.0					X																	12904107		2203	4297	6500	SO:0001819	synonymous_variant	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12904107C>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.480C>T	X.37:g.12904107C>T							p.I160I	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	619	+			160			LRR 5.|Extracellular (Potential).		D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	c.480C>T	CCDS14151.1																																																																																				0.418	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		27	71	0	0	0	0.004656	0	27	71				
FAM9C	171484	broad.mit.edu	37	X	13061929	13061929	+	De_novo_Start_InFrame	SNP	C	C	T	rs368711637		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:13061929C>T	ENST00000333995.3	-	0	110				FAM9C_ENST00000380625.3_De_novo_Start_InFrame|FAM9C_ENST00000542843.1_De_novo_Start_InFrame			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C							nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TTCCTGCCCACGGGCTCCGTG	0.572																																							uc004cvh.1		NA																	0					0						c.(-22--18)CCGTG>CCATG		family with sequence similarity 9, member C		C		0,3835		0,0,1632,571	102.0	67.0	79.0			0.5	0.0	X		79	1,6727		0,1,2427,1872	no	utr-5	FAM9C	NM_174901.5		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095			13061929	1,10562	2203	4300	6503			171484					nucleus		g.chrX:13061929C>T		CCDS35203.1	Xp22.32	2013-03-14			ENSG00000187268	ENSG00000187268			18405	protein-coding gene	gene with protein product	"""testis expressed 39C"""	300479					Standard	NM_174901		Approved	TEX39C	uc004cvh.2	Q8IZT9	OTTHUMG00000021143		X.37:g.13061929C>T						FAM9C_uc004cvg.2_Translation_Start_Site		NM_174901	NP_777561	Q8IZT9	FAM9C_HUMAN			2	190	-								B2R9G7|Q5HYJ6	Translation_Start_Site	SNP	ENST00000333995.3	37	c.-20G>A	CCDS35203.1																																																																																				0.572	FAM9C-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316476.1	NM_174901		12	26	0	0	0	0.001855	0	12	26				
GRPR	2925	broad.mit.edu	37	X	16170416	16170416	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:16170416T>A	ENST00000380289.2	+	3	1201	c.803T>A	c.(802-804)gTg>gAg	p.V268E	RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000422438.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	268					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)	p.V268E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					ACAGTGCTGGTGTTTGTGGGC	0.522																																							uc004cxj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(802-804)GTG>GAG		gastrin-releasing peptide receptor							129.0	112.0	118.0					X																	16170416		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16170416T>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.803T>A	X.37:g.16170416T>A	ENSP00000369643:p.Val268Glu						p.V268E	NM_005314	NP_005305	P30550	GRPR_HUMAN			3	1456	+	Hepatocellular(33;0.183)		268			Helical; Name=6; (Potential).		B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.803T>A	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.512207	0.85389	.	.	ENSG00000126010	ENST00000380289;ENST00000535371	T	0.46451	0.87	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73353	0.3576	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81369	-0.0964	10	0.72032	D	0.01	-16.3182	13.6963	0.62582	0.0:0.0:0.0:1.0	.	268	P30550	GRPR_HUMAN	E	268;57	ENSP00000369643:V268E	ENSP00000369643:V268E	V	+	2	0	GRPR	16080337	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	1.830000	0.53286	0.486000	0.48141	GTG		0.522	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		44	97	0	0	0	0.002852	0	44	97				
BEND2	139105	broad.mit.edu	37	X	18192350	18192350	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:18192350G>A	ENST00000380033.4	-	12	1913	c.1781C>T	c.(1780-1782)aCc>aTc	p.T594I	BEND2_ENST00000380030.3_Missense_Mutation_p.T503I	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	594								p.T594I(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AACACGGTTGGTACGTTTTTT	0.413																																							uc004cyj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1780-1782)ACC>ATC		BEN domain containing 2							114.0	101.0	105.0					X																	18192350		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18192350G>A	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1781C>T	X.37:g.18192350G>A	ENSP00000369372:p.Thr594Ile					BEND2_uc010nfb.2_Missense_Mutation_p.T503I	p.T594I	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			12	1935	-			594					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.1781C>T	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133297	0.37630	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.26223	1.75;1.78	4.05	0.623	0.17654	.	4.670010	0.00582	N	0.000336	T	0.14960	0.0361	N	0.24115	0.695	0.09310	N	1	P;P	0.43477	0.808;0.808	B;B	0.33799	0.17;0.17	T	0.14062	-1.0486	10	0.62326	D	0.03	0.9049	2.1931	0.03904	0.4784:0.0:0.2741:0.2475	.	503;594	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	I	594;503	ENSP00000369372:T594I;ENSP00000369369:T503I	ENSP00000369369:T503I	T	-	2	0	BEND2	18102271	0.043000	0.20138	0.000000	0.03702	0.042000	0.13812	0.154000	0.16343	-0.134000	0.11516	0.544000	0.68410	ACC		0.413	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		12	104	0	0	0	0.001368	0	12	104				
PDK3	5165	broad.mit.edu	37	X	24512948	24512948	+	Missense_Mutation	SNP	C	C	T	rs112864206		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:24512948C>T	ENST00000379162.4	+	2	431	c.196C>T	c.(196-198)Ctt>Ttt	p.L66F	PDK3_ENST00000441463.2_Missense_Mutation_p.L66F|PDK3_ENST00000493226.1_3'UTR	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	66					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.L66F(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGAAGTTAATCTTCTGCCGGA	0.403																																							uc004dbg.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(196-198)CTT>TTT		pyruvate dehydrogenase kinase 3 isoform 2							91.0	78.0	83.0					X																	24512948		2203	4300	6503	SO:0001583	missense	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24512948C>T	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.196C>T	X.37:g.24512948C>T	ENSP00000368460:p.Leu66Phe					PDK3_uc004dbh.2_Missense_Mutation_p.L66F	p.L66F	NM_005391	NP_005382	Q15120	PDK3_HUMAN			2	425	+			66					B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	c.196C>T	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998528	0.74818	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.32023	1.47;1.47	6.16	6.16	0.99307	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.40247	0.1109	M	0.83012	2.62	0.80722	D	1	P;P	0.34615	0.459;0.459	B;B	0.41813	0.367;0.367	T	0.26395	-1.0104	10	0.11794	T	0.64	.	10.329	0.43812	0.0:0.873:0.0:0.127	.	66;66	B4DXG6;Q15120	.;PDK3_HUMAN	F	66	ENSP00000368460:L66F;ENSP00000387536:L66F	ENSP00000368460:L66F	L	+	1	0	PDK3	24422869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.002000	0.40835	2.614000	0.88457	0.594000	0.82650	CTT		0.403	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		3	50	0	0	0	0.000602	0	3	50				
DMD	1756	broad.mit.edu	37	X	32662374	32662374	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:32662374C>A	ENST00000357033.4	-	11	1412	c.1206G>T	c.(1204-1206)ttG>ttT	p.L402F	DMD_ENST00000378677.2_Missense_Mutation_p.L398F|MIR548F5_ENST00000408421.1_RNA|DMD_ENST00000288447.4_Missense_Mutation_p.L394F	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	402					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.L397F(1)|p.L398F(1)|p.L402F(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTTACTTCCCAATTGTAGAA	0.403																																							uc004dda.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(1204-1206)TTG>TTT		dystrophin Dp427m isoform							137.0	117.0	123.0					X																	32662374		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32662374C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1206G>T	X.37:g.32662374C>A	ENSP00000354923:p.Leu402Phe					DMD_uc004dcz.2_Missense_Mutation_p.L279F|DMD_uc004dcy.1_Missense_Mutation_p.L398F|DMD_uc004ddb.1_Missense_Mutation_p.L394F|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.L394F|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|MIR548F5_hsa-mir-548f-5|MI0006378_5'Flank	p.L402F	NM_004006	NP_003997	P11532	DMD_HUMAN			11	1450	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	402			Spectrin 1.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.1206G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216828	0.39201	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.54071	0.59;0.59;0.59	5.73	2.88	0.33553	.	0.783748	0.09316	U	0.818872	T	0.53012	0.1770	L	0.41236	1.265	0.80722	D	1	P;P;P;P	0.50369	0.934;0.919;0.843;0.934	P;P;P;P	0.54431	0.617;0.483;0.752;0.617	T	0.45659	-0.9246	10	0.48119	T	0.1	.	4.3308	0.11062	0.3886:0.3786:0.0:0.2328	.	394;394;402;398	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	F	394;398;402;402;279;394	ENSP00000367948:L398F;ENSP00000354923:L402F;ENSP00000288447:L394F	ENSP00000288447:L394F	L	-	3	2	DMD	32572295	0.911000	0.30947	0.940000	0.37924	0.470000	0.32858	0.044000	0.13992	0.541000	0.28827	0.591000	0.81541	TTG		0.403	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		23	60	1	0	2.89027e-11	0.002299	3.84299e-11	23	60				
FAM47C	442444	broad.mit.edu	37	X	37027551	37027551	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:37027551G>A	ENST00000358047.3	+	1	1120	c.1068G>A	c.(1066-1068)ccG>ccA	p.P356P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	356								p.P356P(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCTGCCCGGAACCTCCAG	0.632																																							uc004ddl.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(1066-1068)CCG>CCA		hypothetical protein LOC442444							76.0	73.0	74.0					X																	37027551		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37027551G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1068G>A	X.37:g.37027551G>A							p.P356P	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1082	+			356					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.1068G>A	CCDS35227.1																																																																																				0.632	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		11	57	0	0	0	0.001855	0	11	57				
WDR13	64743	broad.mit.edu	37	X	48458941	48458941	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:48458941G>T	ENST00000218056.5	+	5	1263	c.758G>T	c.(757-759)cGa>cTa	p.R253L	WDR13_ENST00000376729.5_Missense_Mutation_p.R253L	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	253						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R253L(1)		endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CGCTGCATCCGAGAGATCCCT	0.597																																							uc004dkh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(757-759)CGA>CTA		WD repeat domain 13 protein							93.0	59.0	70.0					X																	48458941		2203	4300	6503	SO:0001583	missense	64743					cytoplasm|nucleus		g.chrX:48458941G>T	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.758G>T	X.37:g.48458941G>T	ENSP00000218056:p.Arg253Leu					WDR13_uc010nif.1_Missense_Mutation_p.R131L|WDR13_uc004dki.1_Missense_Mutation_p.R161L|WDR13_uc004dkj.1_Missense_Mutation_p.R253L|WDR13_uc004dkk.1_Missense_Mutation_p.R161L|WDR13_uc004dkl.3_Missense_Mutation_p.R161L|WDR13_uc011mme.1_Missense_Mutation_p.R131L	p.R253L	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN			6	905	+			253			WD 2.		Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	c.758G>T	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030761	0.93575	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.65916	-0.18;-0.18	5.12	5.12	0.69794	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78910	0.4358	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.75020	0.985;0.937	T	0.79715	-0.1687	10	0.40728	T	0.16	-25.7266	14.9989	0.71455	0.0:0.0:1.0:0.0	.	131;253	B4DVQ7;Q9H1Z4	.;WDR13_HUMAN	L	253	ENSP00000365919:R253L;ENSP00000218056:R253L	ENSP00000218056:R253L	R	+	2	0	WDR13	48343885	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.677000	0.91203	2.127000	0.65507	0.436000	0.28706	CGA		0.597	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			12	18	1	0	1.08611e-07	0.000978	1.33076e-07	12	18				
PRICKLE3	4007	broad.mit.edu	37	X	49035627	49035627	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:49035627C>T	ENST00000376317.3	-	5	631	c.537G>A	c.(535-537)gtG>gtA	p.V179V	PRICKLE3_ENST00000540849.1_Silent_p.V111V|PRICKLE3_ENST00000536904.1_Silent_p.V98V|PRICKLE3_ENST00000538114.1_Silent_p.V166V	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	179	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.						zinc ion binding (GO:0008270)	p.V179V(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CAGTGATGGTCACCGGGAAGA	0.617																																							uc004dmy.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(535-537)GTG>GTA		LIM domain only 6							84.0	67.0	73.0					X																	49035627		2203	4300	6503	SO:0001819	synonymous_variant	4007						protein binding|zinc ion binding	g.chrX:49035627C>T	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.537G>A	X.37:g.49035627C>T						PRICKLE3_uc011mmv.1_Silent_p.V111V|PRICKLE3_uc011mmw.1_Silent_p.V98V|PRICKLE3_uc011mmx.1_Silent_p.V141V|PRICKLE3_uc011mmy.1_Silent_p.V166V	p.V179V	NM_006150	NP_006141	O43900	PRIC3_HUMAN			5	563	-			179			PET.		B7Z8F2|O76007|Q53XR5	Silent	SNP	ENST00000376317.3	37	c.537G>A	CCDS14320.1	.	.	.	.	.	.	.	.	.	.	C	9.215	1.031870	0.19590	.	.	ENSG00000012211	ENST00000453382;ENST00000432913	.	.	.	4.86	2.91	0.33838	.	.	.	.	.	T	0.61578	0.2358	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58352	-0.7651	4	.	.	.	-0.7377	11.3583	0.49627	0.0:0.4882:0.5118:0.0	.	.	.	.	N	192;190	.	.	D	-	1	0	PRICKLE3	48922571	0.990000	0.36364	0.995000	0.50966	0.867000	0.49689	0.112000	0.15479	0.820000	0.34516	0.468000	0.43344	GAC		0.617	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		5	15	0	0	0	0.000602	0	5	15				
AKAP4	8852	broad.mit.edu	37	X	49957633	49957633	+	Silent	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:49957633A>G	ENST00000376056.2	-	5	1854	c.1704T>C	c.(1702-1704)taT>taC	p.Y568Y	AKAP4_ENST00000358526.2_Silent_p.Y577Y|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.Y568Y|AKAP4_ENST00000376058.2_Silent_p.Y194Y					A kinase (PRKA) anchor protein 4									p.Y577Y(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCTGAGCCATATAGCCCATGG	0.478																																							uc004dow.1		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8						c.(1729-1731)TAT>TAC		A-kinase anchor protein 4 isoform 1							124.0	97.0	106.0					X																	49957633		2203	4300	6503	SO:0001819	synonymous_variant	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957633A>G	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1704T>C	X.37:g.49957633A>G						AKAP4_uc004dov.1_Silent_p.Y194Y|AKAP4_uc010njp.1_Silent_p.Y399Y|AKAP4_uc004dou.1_Silent_p.Y568Y	p.Y577Y	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN			5	1855	-	Ovarian(276;0.236)		577						Silent	SNP	ENST00000376056.2	37	c.1731T>C	CCDS14330.1																																																																																				0.478	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		28	49	0	0	0	0.002836	0	28	49				
HUWE1	10075	broad.mit.edu	37	X	53576030	53576030	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:53576030G>A	ENST00000342160.3	-	66	10382	c.9925C>T	c.(9925-9927)Cgt>Tgt	p.R3309C	HUWE1_ENST00000262854.6_Missense_Mutation_p.R3309C|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3309					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.R3309C(1)|p.R3199C(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTATGTTTACGCCCCCCTGAA	0.527																																							uc004dsp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(9925-9927)CGT>TGT		HECT, UBA and WWE domain containing 1							96.0	69.0	78.0					X																	53576030		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53576030G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9925C>T	X.37:g.53576030G>A	ENSP00000340648:p.Arg3309Cys					HUWE1_uc004dsn.2_Missense_Mutation_p.R2117C	p.R3309C	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			67	10327	-			3309					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.9925C>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.61|12.61	1.990058|1.990058	0.35131|0.35131	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.37915	.|1.17;1.17	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.060319	.|0.64402	.|D	.|0.000006	T|T	0.55561|0.55561	0.1928|0.1928	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.982;0.996	T|T	0.54063|0.54063	-0.8349|-0.8349	5|10	.|0.56958	.|D	.|0.05	.|.	17.8502|17.8502	0.88744|0.88744	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3309;3293	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	V|C	2342;146|3309	.|ENSP00000340648:R3309C;ENSP00000262854:R3309C	.|ENSP00000262854:R3309C	A|R	-|-	2|1	0|0	HUWE1|HUWE1	53592755|53592755	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.865000|0.865000	0.49528|0.49528	3.904000|3.904000	0.56325|0.56325	2.489000|2.489000	0.83994|0.83994	0.600000|0.600000	0.82982|0.82982	GCG|CGT		0.527	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		6	39	0	0	0	0.001168	0	6	39				
TRO	7216	broad.mit.edu	37	X	54954144	54954144	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:54954144A>G	ENST00000173898.7	+	11	1920	c.1808A>G	c.(1807-1809)tAt>tGt	p.Y603C	SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Missense_Mutation_p.Y134C|TRO_ENST00000375022.4_Missense_Mutation_p.Y603C|TRO_ENST00000399736.1_Missense_Mutation_p.Y206C|TRO_ENST00000319167.8_Missense_Mutation_p.Y603C|TRO_ENST00000375041.2_Missense_Mutation_p.Y206C	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	603	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Y603C(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CCACCTGAATATGAGTTCTTC	0.493																																							uc004dtq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1807-1809)TAT>TGT		trophinin isoform 5							61.0	59.0	60.0					X																	54954144		2198	4298	6496	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54954144A>G	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1808A>G	X.37:g.54954144A>G	ENSP00000173898:p.Tyr603Cys					TRO_uc004dts.2_Missense_Mutation_p.Y603C|TRO_uc004dtr.2_Missense_Mutation_p.Y603C|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Missense_Mutation_p.Y206C|TRO_uc011mok.1_Missense_Mutation_p.Y134C|TRO_uc004dtw.2_Missense_Mutation_p.Y206C|TRO_uc004dtx.2_Translation_Start_Site	p.Y603C	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			11	1915	+			603			MAGE.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.1808A>G	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.852737	0.51270	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.05382	3.45;3.45;3.45;3.45;3.45;3.45	3.1	3.1	0.35709	.	.	.	.	.	T	0.20981	0.0505	M	0.75447	2.3	0.46954	D	0.999267	D;P;D;D	0.89917	1.0;0.908;1.0;1.0	D;P;D;D	0.97110	0.996;0.838;1.0;0.998	T	0.00553	-1.1674	9	0.87932	D	0	.	8.7124	0.34391	1.0:0.0:0.0:0.0	.	206;206;603;603	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	C	603;603;603;206;206;134;206	ENSP00000173898:Y603C;ENSP00000318278:Y603C;ENSP00000364162:Y603C;ENSP00000382641:Y206C;ENSP00000405126:Y134C;ENSP00000364181:Y206C	ENSP00000173898:Y603C	Y	+	2	0	TRO	54970869	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.896000	0.48656	1.452000	0.47756	0.417000	0.27973	TAT		0.493	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		9	36	0	0	0	0.00499	0	9	36				
USP51	158880	broad.mit.edu	37	X	55514858	55514858	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:55514858C>A	ENST00000500968.3	-	2	597	c.515G>T	c.(514-516)gGg>gTg	p.G172V	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	172					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.G172V(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATCCCCCGACCCGTCTAGGTC	0.652																																							uc004dun.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(514-516)GGG>GTG		ubiquitin specific protease 51							29.0	25.0	26.0					X																	55514858		2202	4300	6502	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55514858C>A	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.515G>T	X.37:g.55514858C>A	ENSP00000423333:p.Gly172Val					USP51_uc011moo.1_Intron	p.G172V	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN			2	594	-			172					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.515G>T	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	7.250	0.603121	0.13939	.	.	ENSG00000247746	ENST00000500968	T	0.12465	2.68	2.26	0.149	0.14863	.	0.932568	0.08598	U	0.921888	T	0.06462	0.0166	N	0.19112	0.55	0.09310	N	1	B	0.32160	0.358	B	0.21917	0.037	T	0.38001	-0.9681	10	0.27082	T	0.32	.	3.1411	0.06456	0.0:0.5353:0.2782:0.1866	.	172	Q70EK9	UBP51_HUMAN	V	172	ENSP00000423333:G172V	ENSP00000423333:G172V	G	-	2	0	USP51	55531583	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.275000	0.08525	-0.047000	0.13423	0.502000	0.49764	GGG		0.652	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		4	35	1	0	2.7689e-08	0.001984	3.46353e-08	4	35				
HEPH	9843	broad.mit.edu	37	X	65409587	65409587	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:65409587G>T	ENST00000343002.2	+	5	1534	c.870G>T	c.(868-870)gtG>gtT	p.V290V	HEPH_ENST00000441993.2_Silent_p.V293V|HEPH_ENST00000419594.1_Silent_p.V293V|HEPH_ENST00000336279.5_Silent_p.V23V|HEPH_ENST00000519389.1_Silent_p.V344V|HEPH_ENST00000374727.3_Silent_p.V293V			Q9BQS7	HEPH_HUMAN	hephaestin	290	Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.V290V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGAAACGTGTGGCCTGGCACT	0.443																																							uc011moz.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(5)|ovary(4)	9						c.(877-879)GTG>GTT		hephaestin isoform a							178.0	144.0	156.0					X																	65409587		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65409587G>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.870G>T	X.37:g.65409587G>T						HEPH_uc004dwn.2_Silent_p.V293V|HEPH_uc004dwo.2_Silent_p.V23V|HEPH_uc010nkr.2_Silent_p.V293V|HEPH_uc011mpa.1_Silent_p.V293V	p.V293V	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			6	939	+			290			Extracellular (Potential).|Plastocyanin-like 2.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.879G>T																																																																																					0.443	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		40	115	1	0	2.59497e-14	0.007835	3.68705e-14	40	115				
HEPH	9843	broad.mit.edu	37	X	65423337	65423337	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:65423337A>G	ENST00000343002.2	+	12	2873	c.2209A>G	c.(2209-2211)Atc>Gtc	p.I737V	HEPH_ENST00000441993.2_Missense_Mutation_p.I740V|HEPH_ENST00000419594.1_Missense_Mutation_p.I548V|HEPH_ENST00000336279.5_Missense_Mutation_p.I470V|HEPH_ENST00000519389.1_Missense_Mutation_p.I791V|HEPH_ENST00000374727.3_Missense_Mutation_p.I740V			Q9BQS7	HEPH_HUMAN	hephaestin	737	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.I737V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AATCTACTATATCATGGCAGA	0.527																																							uc011moz.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)	9						c.(2218-2220)ATC>GTC		hephaestin isoform a							93.0	73.0	80.0					X																	65423337		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65423337A>G	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2209A>G	X.37:g.65423337A>G	ENSP00000343939:p.Ile737Val					HEPH_uc004dwn.2_Missense_Mutation_p.I740V|HEPH_uc004dwo.2_Missense_Mutation_p.I470V|HEPH_uc010nkr.2_Missense_Mutation_p.I548V|HEPH_uc011mpa.1_Missense_Mutation_p.I740V|HEPH_uc010nks.2_Missense_Mutation_p.I29V	p.I740V	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			13	2278	+			737			Extracellular (Potential).|Plastocyanin-like 5.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.2218A>G		.	.	.	.	.	.	.	.	.	.	A	12.67	2.007666	0.35415	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	4.91	3.71	0.42584	Cupredoxin (2);	0.053759	0.64402	D	0.000001	D	0.95686	0.8597	M	0.64170	1.965	0.31866	N	0.620294	B;B;P;B	0.34837	0.111;0.176;0.472;0.011	B;B;B;B	0.30572	0.117;0.08;0.109;0.034	D	0.94023	0.7294	10	0.46703	T	0.11	.	5.4022	0.16303	0.7286:0.177:0.0944:0.0	.	791;137;548;737	E9PHN8;B4DFV3;E7ES21;Q9BQS7	.;.;.;HEPH_HUMAN	V	791;740;470;740;548;737;694	ENSP00000430620:I791V;ENSP00000363859:I740V;ENSP00000337418:I470V;ENSP00000411687:I740V;ENSP00000413211:I548V;ENSP00000343939:I737V;ENSP00000398078:I694V	ENSP00000337418:I470V	I	+	1	0	HEPH	65340062	0.999000	0.42202	0.995000	0.50966	0.970000	0.65996	2.508000	0.45450	0.677000	0.31305	0.486000	0.48141	ATC		0.527	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		8	53	0	0	0	0.004482	0	8	53				
ARR3	407	broad.mit.edu	37	X	69502146	69502146	+	IGR	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:69502146C>A	ENST00000307959.8	+	0	1292				RAB41_ENST00000276066.4_Missense_Mutation_p.Q27K|RAB41_ENST00000374473.2_Missense_Mutation_p.Q27K	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)						endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)		p.Q27K(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AACGGAATACCAGTCTCTGTG	0.547																																							uc004dyc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(79-81)CAG>AAG		RAB41, member RAS oncogene family							106.0	84.0	91.0					X																	69502146		2203	4300	6503	SO:0001628	intergenic_variant	347517				protein transport|small GTPase mediated signal transduction		GTP binding	g.chrX:69502146C>A		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768		X.37:g.69502146C>A						RAB41_uc010nkv.2_Missense_Mutation_p.Q17K	p.Q27K	NM_001032726	NP_001027898	Q5JT25	RAB41_HUMAN			1	79	+			27					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	c.79C>A	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	C	6.002	0.368735	0.11352	.	.	ENSG00000147127	ENST00000374473;ENST00000276066	T;T	0.64991	-0.13;0.25	3.29	1.14	0.20703	.	0.212676	0.29253	U	0.012696	T	0.35393	0.0930	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.14023	0.01;0.004	T	0.19484	-1.0304	10	0.52906	T	0.07	.	4.9977	0.14247	0.1989:0.6645:0.0:0.1367	.	27;27	Q5JT25-2;Q5JT25	.;RAB41_HUMAN	K	27	ENSP00000363597:Q27K;ENSP00000276066:Q27K	ENSP00000276066:Q27K	Q	+	1	0	RAB41	69418871	0.002000	0.14202	0.001000	0.08648	0.262000	0.26303	0.397000	0.20883	0.136000	0.18733	0.600000	0.82982	CAG		0.547	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		20	88	1	0	8.34094e-07	0.008871	9.84999e-07	20	88				
MAGEE1	57692	broad.mit.edu	37	X	75649135	75649135	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:75649135C>T	ENST00000361470.2	+	1	1090	c.812C>T	c.(811-813)tCc>tTc	p.S271F		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	271	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.S271F(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCGAGCACCTCCGTGCTGCCC	0.706																																							uc004ecm.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(811-813)TCC>TTC		melanoma antigen family E, 1							28.0	27.0	27.0					X																	75649135		2199	4298	6497	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649135C>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.812C>T	X.37:g.75649135C>T	ENSP00000354912:p.Ser271Phe						p.S271F	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	1019	+			271			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.812C>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	c	6.313	0.425901	0.11987	.	.	ENSG00000198934	ENST00000361470	T	0.28255	1.62	2.28	1.4	0.22301	.	.	.	.	.	T	0.15998	0.0385	N	0.19112	0.55	0.09310	N	1	P	0.35982	0.531	B	0.26969	0.075	T	0.10451	-1.0629	9	0.46703	T	0.11	.	8.2042	0.31443	0.0:0.7548:0.2452:0.0	.	271	Q9HCI5	MAGE1_HUMAN	F	271	ENSP00000354912:S271F	ENSP00000354912:S271F	S	+	2	0	MAGEE1	75565539	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	1.011000	0.29911	0.376000	0.24707	-0.202000	0.12741	TCC		0.706	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		6	15	0	0	0	0.001168	0	6	15				
POF1B	79983	broad.mit.edu	37	X	84563165	84563165	+	Silent	SNP	G	G	T	rs200939713		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:84563165G>T	ENST00000262753.4	-	10	1160	c.1015C>A	c.(1015-1017)Cgg>Agg	p.R339R	POF1B_ENST00000373145.3_Silent_p.R339R	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	339						tight junction (GO:0005923)		p.R339R(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGCTCCTCCCGTATGTTGCTA	0.358																																							uc004eer.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1015-1017)CGG>AGG		premature ovarian failure, 1B							91.0	79.0	83.0					X																	84563165		2203	4300	6503	SO:0001819	synonymous_variant	79983						actin binding	g.chrX:84563165G>T	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1015C>A	X.37:g.84563165G>T						POF1B_uc004ees.2_Silent_p.R339R	p.R339R	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN			10	1161	-			339			Potential.		A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Silent	SNP	ENST00000262753.4	37	c.1015C>A	CCDS14452.1																																																																																				0.358	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		9	44	1	0	4.68919e-08	0.008291	5.80489e-08	9	44				
GPRASP2	114928	broad.mit.edu	37	X	101969999	101969999	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:101969999G>C	ENST00000535209.1	+	4	1033	c.202G>C	c.(202-204)Gca>Cca	p.A68P	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A68P|GPRASP2_ENST00000543253.1_Missense_Mutation_p.A68P			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	68						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)	p.A68P(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TGAGGCCCAAGCAATGTCTGG	0.577																																							uc004ejk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(202-204)GCA>CCA		G protein-coupled receptor associated sorting							90.0	84.0	86.0					X																	101969999		2203	4300	6503	SO:0001583	missense	114928					cytoplasm	protein binding	g.chrX:101969999G>C	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.202G>C	X.37:g.101969999G>C	ENSP00000437394:p.Ala68Pro					GPRASP2_uc004ejl.2_Missense_Mutation_p.A68P|GPRASP2_uc004ejm.2_Missense_Mutation_p.A68P|GPRASP2_uc011mrp.1_5'Flank	p.A68P	NM_138437	NP_612446	Q96D09	GASP2_HUMAN			4	1536	+			68					D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.202G>C	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	3.716	-0.058460	0.07317	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.12361	2.69;2.69;2.69	4.82	-1.6	0.08426	.	1.560410	0.03892	N	0.278850	T	0.06735	0.0172	N	0.14661	0.345	0.09310	N	1	B	0.32693	0.38	B	0.25759	0.063	T	0.24548	-1.0157	10	0.25751	T	0.34	.	4.1623	0.10289	0.4162:0.0:0.3267:0.2571	.	68	Q96D09	GASP2_HUMAN	P	68	ENSP00000437872:A68P;ENSP00000437394:A68P;ENSP00000339057:A68P	ENSP00000339057:A68P	A	+	1	0	GPRASP2	101856655	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.233000	0.09041	-0.682000	0.05197	-1.122000	0.02009	GCA		0.577	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		66	110	0	0	0	0.00361	0	66	110				
RGAG1	57529	broad.mit.edu	37	X	109695410	109695410	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:109695410C>A	ENST00000465301.2	+	3	1811	c.1565C>A	c.(1564-1566)aCa>aAa	p.T522K	RGAG1_ENST00000540313.1_Missense_Mutation_p.T522K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	522								p.T522K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCCTCTGAAACAATGTCCATG	0.517																																							uc004eor.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1564-1566)ACA>AAA		retrotransposon gag domain containing 1							180.0	165.0	170.0					X																	109695410		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109695410C>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1565C>A	X.37:g.109695410C>A	ENSP00000419786:p.Thr522Lys					RGAG1_uc011msr.1_Missense_Mutation_p.T522K	p.T522K	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	1811	+			522					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.1565C>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782439	0.49891	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.49720	0.77;0.77	4.27	0.829	0.18847	.	0.438528	0.16960	N	0.192557	T	0.52789	0.1756	L	0.58101	1.795	0.25573	N	0.986878	D	0.76494	0.999	P	0.61658	0.892	T	0.40040	-0.9584	9	.	.	.	-5.8209	3.8113	0.08798	0.1819:0.5416:0.0:0.2765	.	522	Q8NET4	RGAG1_HUMAN	K	522	ENSP00000419786:T522K;ENSP00000441452:T522K	.	T	+	2	0	RGAG1	109582066	0.208000	0.23494	0.157000	0.22605	0.677000	0.39632	0.330000	0.19715	0.036000	0.15547	0.544000	0.68410	ACA		0.517	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		16	154	1	0	1.88708e-17	0.008361	2.79943e-17	16	154				
TENM1	10178	broad.mit.edu	37	X	123517813	123517813	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:123517813G>A	ENST00000371130.3	-	29	7010	c.6947C>T	c.(6946-6948)gCc>gTc	p.A2316V	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.A2323V	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2316					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A2318V(1)									ATTATCACAGGCTACATAATA	0.428																																							uc004euj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(6946-6948)GCC>GTC		odz, odd Oz/ten-m homolog 1 isoform 3							99.0	87.0	91.0					X																	123517813		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123517813G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6947C>T	X.37:g.123517813G>A	ENSP00000360171:p.Ala2316Val					ODZ1_uc011muj.1_Missense_Mutation_p.A2322V|ODZ1_uc010nqy.2_Missense_Mutation_p.A2323V	p.A2316V	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			29	7011	-			2316			Extracellular (Potential).|YD 23.		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.6947C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066850	0.76301	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87103	-2.21;-2.18	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.91713	0.7380	L	0.52573	1.65	0.80722	D	1	D;P;D	0.69078	0.997;0.615;0.966	D;B;P	0.75020	0.985;0.219;0.77	D	0.91448	0.5179	10	0.48119	T	0.1	.	18.6847	0.91559	0.0:0.0:1.0:0.0	.	2322;2323;2316	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	V	2316;2323	ENSP00000360171:A2316V;ENSP00000403954:A2323V	ENSP00000360171:A2316V	A	-	2	0	ODZ1	123345494	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.356000	0.79943	0.600000	0.82982	GCC		0.428	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		37	75	0	0	0	0.003755	0	37	75				
SLC9A6	10479	broad.mit.edu	37	X	135084373	135084373	+	Splice_Site	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:135084373G>T	ENST00000370698.3	+	6	838		c.e6+1		SLC9A6_ENST00000370695.4_Splice_Site|SLC9A6_ENST00000370701.1_Splice_Site	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6						axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)	p.?(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGCTGTCCTCGTAAGTGTTTG	0.348																																							uc004ezj.2		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e6+1		solute carrier family 9 (sodium/hydrogen							208.0	169.0	182.0					X																	135084373		2203	4300	6503	SO:0001630	splice_region_variant	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135084373G>T	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.803+1G>T	X.37:g.135084373G>T						SLC9A6_uc004ezk.2_Splice_Site_p.S300_splice|SLC9A6_uc011mvx.1_Splice_Site_p.S248_splice	p.S268_splice	NM_006359	NP_006350	Q92581	SL9A6_HUMAN			6	879	+	Acute lymphoblastic leukemia(192;0.000127)							A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Splice_Site	SNP	ENST00000370698.3	37	c.803_splice	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607825	0.87258	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2989	0.90157	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC9A6	134912039	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.476000	0.97823	2.546000	0.85860	0.594000	0.82650	.		0.348	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359	Intron	47	112	1	0	1.86633e-21	0.00361	2.90049e-21	47	112				
ARHGEF6	9459	broad.mit.edu	37	X	135825841	135825841	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:135825841G>T	ENST00000250617.6	-	5	1769	c.564C>A	c.(562-564)taC>taA	p.Y188*	ARHGEF6_ENST00000370620.1_Nonsense_Mutation_p.Y34*|ARHGEF6_ENST00000370622.1_Nonsense_Mutation_p.Y34*|ARHGEF6_ENST00000535227.1_Nonsense_Mutation_p.Y34*	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	188	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y188*(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTCGTGTGACGTAAATGATGT	0.423																																							uc004fab.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(562-564)TAC>TAA		Rac/Cdc42 guanine nucleotide exchange factor 6							232.0	192.0	206.0					X																	135825841		2203	4300	6503	SO:0001587	stop_gained	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135825841G>T	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.564C>A	X.37:g.135825841G>T	ENSP00000250617:p.Tyr188*					ARHGEF6_uc011mwd.1_Nonsense_Mutation_p.Y34*|ARHGEF6_uc011mwe.1_Nonsense_Mutation_p.Y34*	p.Y188*	NM_004840	NP_004831	Q15052	ARHG6_HUMAN			5	1026	-	Acute lymphoblastic leukemia(192;0.000127)		188			SH3.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Nonsense_Mutation	SNP	ENST00000250617.6	37	c.564C>A	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	G	37	6.615799	0.97709	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	.	.	.	6.08	-5.57	0.02521	.	0.224782	0.46145	D	0.000319	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	17.586	0.87981	0.3968:0.0:0.6032:0.0	.	.	.	.	X	188;34;34;34;34	.	ENSP00000250617:Y188X	Y	-	3	2	ARHGEF6	135653507	0.132000	0.22450	0.895000	0.35142	0.961000	0.63080	-0.311000	0.08124	-1.242000	0.02523	-0.909000	0.02823	TAC		0.423	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		58	120	1	0	2.02627e-32	0.00361	3.32667e-32	58	120				
F9	2158	broad.mit.edu	37	X	138612909	138612909	+	5'Flank	SNP	C	C	G	rs375594466		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:138612909C>G	ENST00000218099.2	+	0	0				F9_ENST00000394090.2_5'Flank	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX						blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	CTTTCACAATCTGCTAGCAAA	0.443																																							uc004fas.1		NA																	0				lung(2)|ovary(1)	3						c.(-16--12)ATCTG>ATGTG		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	T		1,3834		0,1,1631,571	193.0	153.0	167.0			0.1	0.0	X		167	0,6728		0,0,2428,1872	no	utr-5	F9	NM_000133.3		0,1,4059,2443	GG,GC,CC,C		0.0,0.0261,0.0095			138612909	1,10562	2203	4300	6503	SO:0001631	upstream_gene_variant	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138612909C>G	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536		X.37:g.138612909C>G	Exception_encountered					F9_uc004fat.1_Translation_Start_Site		NM_000133	NP_000124	P00740	FA9_HUMAN			1	15	+	Acute lymphoblastic leukemia(192;0.000127)							A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Translation_Start_Site	SNP	ENST00000218099.2	37	c.-14C>G	CCDS14666.1																																																																																				0.443	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			28	47	0	0	0	0.007291	0	28	47				
SLITRK4	139065	broad.mit.edu	37	X	142718399	142718399	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:142718399G>A	ENST00000381779.4	-	2	751	c.526C>T	c.(526-528)Cga>Tga	p.R176*	SLITRK4_ENST00000338017.4_Nonsense_Mutation_p.R176*|SLITRK4_ENST00000356928.1_Nonsense_Mutation_p.R176*	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	176						integral component of membrane (GO:0016021)		p.R176*(2)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GATGCGAATCGGAAAATATTA	0.408																																							uc004fbx.2		NA																	2	Substitution - Nonsense(2)		lung(1)|prostate(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(526-528)CGA>TGA		slit and trk like 4 protein precursor							75.0	73.0	74.0					X																	142718399		2203	4300	6503	SO:0001587	stop_gained	139065					integral to membrane		g.chrX:142718399G>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.526C>T	X.37:g.142718399G>A	ENSP00000371198:p.Arg176*					SLITRK4_uc004fby.2_Nonsense_Mutation_p.R176*	p.R176*	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	902	-	Acute lymphoblastic leukemia(192;6.56e-05)		176			Extracellular (Potential).|LRR 5.		Q5JXG3|Q8TCM8|Q96DL3	Nonsense_Mutation	SNP	ENST00000381779.4	37	c.526C>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	G	36	5.785572	0.96937	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	.	.	.	5.37	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2241	11.3016	0.49309	0.0:0.0:0.6698:0.3302	.	.	.	.	X	176	.	ENSP00000336627:R176X	R	-	1	2	SLITRK4	142546065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.871000	0.87180	1.020000	0.39573	-0.225000	0.12378	CGA		0.408	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		19	92	0	0	0	0.001882	0	19	92				
AFF2	2334	broad.mit.edu	37	X	147919180	147919180	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:147919180C>A	ENST00000370460.2	+	5	1575	c.1096C>A	c.(1096-1098)Cat>Aat	p.H366N	AFF2_ENST00000286437.5_Intron|AFF2_ENST00000370457.5_Intron|AFF2_ENST00000342251.3_Intron|AFF2_ENST00000370458.1_Intron	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	366					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.H366N(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGATGACCCATTCCTGGCC	0.423																																							uc004fcp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(1096-1098)CAT>AAT		fragile X mental retardation 2							164.0	131.0	142.0					X																	147919180		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147919180C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1096C>A	X.37:g.147919180C>A	ENSP00000359489:p.His366Asn					AFF2_uc004fco.2_Intron|AFF2_uc004fcq.2_Missense_Mutation_p.H362N|AFF2_uc004fcr.2_Intron|AFF2_uc011mxb.1_Intron|AFF2_uc004fcs.2_Intron|AFF2_uc011mxc.1_Intron	p.H366N	NM_002025	NP_002016	P51816	AFF2_HUMAN			5	1575	+	Acute lymphoblastic leukemia(192;6.56e-05)		366					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1096C>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476547	0.63737	.	.	ENSG00000155966	ENST00000370460	T	0.67698	-0.28	5.42	4.37	0.52481	.	0.196264	0.42172	D	0.000759	T	0.67627	0.2913	L	0.49126	1.545	0.80722	D	1	P;P	0.40302	0.664;0.712	B;P	0.47162	0.405;0.54	T	0.71444	-0.4591	10	0.66056	D	0.02	.	12.3915	0.55360	0.0:0.9034:0.0:0.0966	.	362;366	P51816-5;P51816	.;AFF2_HUMAN	N	366	ENSP00000359489:H366N	ENSP00000359489:H366N	H	+	1	0	AFF2	147726872	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	2.939000	0.48995	2.273000	0.75805	0.600000	0.82982	CAT		0.423	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		9	33	1	0	3.09899e-07	0.004482	3.74171e-07	9	33				
MAGEA10	4109	broad.mit.edu	37	X	151303238	151303238	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:151303238C>A	ENST00000370323.4	-	4	1171	c.855G>T	c.(853-855)caG>caT	p.Q285H	MAGEA10_ENST00000244096.3_Missense_Mutation_p.Q285H|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	285	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAGGCACCTGCCGGTACT	0.522																																							uc004ffk.2		NA																	0					0						c.(853-855)CAG>CAT		melanoma antigen family A, 10							101.0	99.0	99.0					X																	151303238		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303238C>A		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.855G>T	X.37:g.151303238C>A	ENSP00000359347:p.Gln285His					MAGEA10_uc004ffl.2_Missense_Mutation_p.Q285H	p.Q285H	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN			5	1263	-	Acute lymphoblastic leukemia(192;6.56e-05)		285			MAGE.			Missense_Mutation	SNP	ENST00000370323.4	37	c.855G>T	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801467	0.31869	.	.	ENSG00000124260	ENST00000370323;ENST00000244096	T;T	0.05855	3.38;3.38	2.6	1.7	0.24286	.	0.423208	0.23279	N	0.049940	T	0.15219	0.0367	M	0.90369	3.11	0.09310	N	1	D	0.54601	0.967	P	0.48627	0.584	T	0.10086	-1.0645	10	0.72032	D	0.01	.	6.1019	0.20051	0.2993:0.7007:0.0:0.0	.	285	P43363	MAGAA_HUMAN	H	285	ENSP00000359347:Q285H;ENSP00000244096:Q285H	ENSP00000244096:Q285H	Q	-	3	2	MAGEA10	151053894	0.000000	0.05858	0.032000	0.17829	0.606000	0.37113	-0.535000	0.06142	0.485000	0.27652	0.292000	0.19580	CAG		0.522	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		4	139	1	0	0.00116845	0.001168	0.00124843	4	139				
PLXNB3	5365	broad.mit.edu	37	X	153039513	153039513	+	Missense_Mutation	SNP	G	G	T	rs146891755	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:153039513G>T	ENST00000361971.5	+	20	3593	c.3479G>T	c.(3478-3480)cGc>cTc	p.R1160L	PLXNB3_ENST00000538776.1_Missense_Mutation_p.R813L|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R770L|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R1183L|SRPK3_ENST00000489426.1_5'Flank	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1160	IPT/TIG 4.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.R1160L(1)		central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCCTGCCCGCCCCTACCGC	0.706																																							uc004fii.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(3478-3480)CGC>CTC		plexin B3 isoform 1							11.0	12.0	12.0					X																	153039513		2089	4108	6197	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153039513G>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3479G>T	X.37:g.153039513G>T	ENSP00000355378:p.Arg1160Leu					PLXNB3_uc010nuk.2_Missense_Mutation_p.R1183L|PLXNB3_uc011mzd.1_Missense_Mutation_p.R799L|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.2_5'Flank	p.R1160L	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN			20	3653	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1160			IPT/TIG 4.|Extracellular (Potential).		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.3479G>T	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	9.499	1.102664	0.20632	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.68624	5.21;5.17;4.59;-0.34	5.14	2.96	0.34315	.	0.472735	0.23684	N	0.045600	T	0.57021	0.2025	L	0.34521	1.04	0.09310	N	1	B;B;B	0.27951	0.195;0.085;0.125	B;B;B	0.37780	0.258;0.068;0.258	T	0.51132	-0.8744	10	0.37606	T	0.19	.	8.7233	0.34454	0.2367:0.0:0.7633:0.0	.	813;1183;1160	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	L	1183;1160;813;770	ENSP00000442736:R1183L;ENSP00000355378:R1160L;ENSP00000445569:R813L;ENSP00000441919:R770L	ENSP00000355378:R1160L	R	+	2	0	PLXNB3	152692707	0.001000	0.12720	0.786000	0.31890	0.527000	0.34593	0.838000	0.27572	0.923000	0.37045	0.529000	0.55759	CGC		0.706	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			6	10	1	0	9.70103e-10	0.008291	1.25577e-09	6	10				
CELA2A	63036	broad.mit.edu	37	1	15789989	15789989	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:15789989delC	ENST00000359621.4	+	5	490	c.465delC	c.(463-465)tgcfs	p.C155fs		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	155	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						ACTACCCCTGCTACGTCACGG	0.642																																							uc001awk.2		NA																	0				ovary(2)	2						c.(463-465)TGCfs		elastase 2A preproprotein							80.0	72.0	75.0					1																	15789989		2202	4278	6480	SO:0001589	frameshift_variant	63036				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15789989delC		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.465delC	1.37:g.15789989delC	ENSP00000352639:p.Cys155fs						p.C155fs	NM_033440	NP_254275	P08217	CEL2A_HUMAN			5	491	+			155			Peptidase S1.		B2R5I4|Q14243	Frame_Shift_Del	DEL	ENST00000359621.4	37	c.465delC	CCDS157.1																																																																																				0.642	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		8	97	NA	NA	NA	NA	NA	8	97	---	---	---	---
GPSM2	29899	broad.mit.edu	37	1	109465136	109465136	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:109465136delA	ENST00000406462.2	+	14	2311	c.1538delA	c.(1537-1539)gaafs	p.E513fs	GPSM2_ENST00000264126.3_Frame_Shift_Del_p.E513fs|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	513					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TGCTTACAAGAAAAGAACTGC	0.378																																							uc010ovc.1		NA																	0				central_nervous_system(1)	1						c.(1537-1539)GAAfs		LGN protein							161.0	159.0	160.0					1																	109465136		2203	4300	6503	SO:0001589	frameshift_variant	29899				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding	g.chr1:109465136delA	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1538delA	1.37:g.109465136delA	ENSP00000385510:p.Glu513fs					AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Frame_Shift_Del_p.E513fs|GPSM2_uc010ove.1_Frame_Shift_Del_p.E513fs	p.E513fs	NM_013296	NP_037428	P81274	GPSM2_HUMAN		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)	13	2034	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	513					Q5T1N8|Q6IBL7|Q8N0Z5	Frame_Shift_Del	DEL	ENST00000406462.2	37	c.1538delA	CCDS792.2																																																																																				0.378	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296		12	170	NA	NA	NA	NA	NA	12	170	---	---	---	---
LOR	4014	broad.mit.edu	37	1	153233535	153233536	+	In_Frame_Ins	INS	-	-	CGG			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:153233535_153233536insCGG	ENST00000368742.3	+	2	167_168	c.110_111insCGG	c.(109-114)ttcggc>ttCGGcggc	p.41_42insG		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	41					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			tgcggcttcttcggcggcggcg	0.752																																							uc001fbm.2		NA																	0					0						c.(109-111)TTC>TTCGGC		loricrin				2,2626		1,0,1313						-2.6	0.0			5	25,5423		5,15,2704	no	coding	LOR	NM_000427.2		6,15,4017	A1A1,A1R,RR		0.4589,0.0761,0.3343				27,8049				SO:0001652	inframe_insertion	4014				keratinization|peptide cross-linking	cornified envelope|cytoplasm|insoluble fraction|nucleoplasm	protein binding, bridging|structural constituent of cytoskeleton	g.chr1:153233535_153233536insCGG	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.120_122dupCGG	1.37:g.153233542_153233544dupCGG	ENSP00000357731:p.Gly44_Gly45dup						p.41_42insG	NM_000427	NP_000418	P23490	LORI_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	164_165	+	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		41_42					Q5T869|Q5XKF8	In_Frame_Ins	INS	ENST00000368742.3	37	c.110_111insCGG	CCDS30870.1																																																																																				0.752	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427		7	19	NA	NA	NA	NA	NA	7	19	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157504517	157504517	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:157504517delC	ENST00000361835.3	-	8	1725	c.1568delG	c.(1567-1569)ggafs	p.G523fs	FCRL5_ENST00000368191.3_Frame_Shift_Del_p.G438fs|FCRL5_ENST00000368189.3_Frame_Shift_Del_p.G523fs|FCRL5_ENST00000368190.3_Frame_Shift_Del_p.G523fs|FCRL5_ENST00000356953.4_Frame_Shift_Del_p.G523fs	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	523	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGACACTCTTCCCACAGAGGG	0.512																																							uc001fqu.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)	6						c.(1567-1569)GGAfs		Fc receptor-like 5							58.0	58.0	58.0					1																	157504517		2203	4300	6503	SO:0001589	frameshift_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157504517delC	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1568delG	1.37:g.157504517delC	ENSP00000354691:p.Gly523fs					FCRL5_uc009wsm.2_Frame_Shift_Del_p.G523fs|FCRL5_uc010phv.1_Frame_Shift_Del_p.G523fs|FCRL5_uc010phw.1_Frame_Shift_Del_p.G438fs|FCRL5_uc001fqv.1_Frame_Shift_Del_p.G523fs|FCRL5_uc010phx.1_Frame_Shift_Del_p.G274fs	p.G523fs	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			8	1726	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	523			Extracellular (Potential).|Ig-like C2-type 5.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Frame_Shift_Del	DEL	ENST00000361835.3	37	c.1568delG	CCDS1165.1																																																																																				0.512	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		7	79	NA	NA	NA	NA	NA	7	79	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167096014	167096014	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:167096014delT	ENST00000361200.2	+	6	1812	c.1646delT	c.(1645-1647)atcfs	p.I549fs	DUSP27_ENST00000271385.5_Frame_Shift_Del_p.I549fs|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Frame_Shift_Del_p.I549fs			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	549					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGATGGAAGATCAAGAGAATC	0.552																																							uc001geb.1		NA																	0				ovary(3)	3						c.(1645-1647)ATCfs		dual specificity phosphatase 27							87.0	86.0	86.0					1																	167096014		2203	4300	6503	SO:0001589	frameshift_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096014delT	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1646delT	1.37:g.167096014delT	ENSP00000354483:p.Ile549fs						p.I549fs	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	1646	+			549					A0AUM4|Q9C074	Frame_Shift_Del	DEL	ENST00000361200.2	37	c.1646delT	CCDS30932.1																																																																																				0.552	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		17	144	NA	NA	NA	NA	NA	17	144	---	---	---	---
PLA2G4A	5321	broad.mit.edu	37	1	186946793	186946794	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:186946793_186946794insT	ENST00000367466.3	+	16	1985_1986	c.1833_1834insT	c.(1834-1836)tttfs	p.F612fs	PLA2G4A_ENST00000442353.2_Frame_Shift_Ins_p.F552fs	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	612	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	ATCCTTATGTGTTTGATCGGGA	0.416																																							uc001gsc.2		NA																	0				lung(2)|breast(1)	3						c.(1831-1836)GTGTTTfs		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)																																			SO:0001589	frameshift_variant	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186946793_186946794insT	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1836dupT	1.37:g.186946796_186946796dupT	ENSP00000356436:p.Phe612fs					PLA2G4A_uc010pos.1_Frame_Shift_Ins_p.V551fs	p.V611fs	NM_024420	NP_077734	P47712	PA24A_HUMAN			16	2038_2039	+			611_612			PLA2c.		B1AKG4|Q29R80	Frame_Shift_Ins	INS	ENST00000367466.3	37	c.1833_1834insT	CCDS1372.1																																																																																				0.416	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		20	97	NA	NA	NA	NA	NA	20	97	---	---	---	---
CDNF	441549	broad.mit.edu	37	10	14870272	14870273	+	Splice_Site	INS	-	-	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:14870272_14870273insT	ENST00000378442.1	-	4	313		c.e4-1		CDNF_ENST00000378441.2_Splice_Site			Q49AH0	CDNF_HUMAN	cerebral dopamine neurotrophic factor							extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(1)	5						TCTTTACATACTGGAAGGAACA	0.386																																							uc001inb.1		NA																	0					0						c.e2-1		arginine-rich, mutated in early stage																																				SO:0001630	splice_region_variant	441549					extracellular region	growth factor activity	g.chr10:14870272_14870273insT	BC037872	CCDS31148.1	10p13	2009-06-04	2009-06-04	2009-06-04	ENSG00000185267	ENSG00000185267			24913	protein-coding gene	gene with protein product	"""conserved dopamine neurotrophic factor"""	611233	"""arginine-rich, mutated in early stage tumors-like 1"""	ARMETL1		17611540	Standard	NM_001029954		Approved		uc001inb.1	Q49AH0	OTTHUMG00000017713	ENST00000378442.1:c.191-1->A	10.37:g.14870273_14870273dupT						CDNF_uc010qbv.1_Splice_Site_p.V39_splice|CDNF_uc001inc.1_Splice_Site	p.V39_splice	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN			2	154	-								A2RUU0|B4DVW3	Splice_Site	INS	ENST00000378442.1	37	c.116_splice																																																																																					0.386	CDNF-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000046919.1	NM_001029954	Intron	10	137	NA	NA	NA	NA	NA	10	137	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30033354	30033354	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:30033354delT	ENST00000328224.6	-	2	2105	c.872delA	c.(871-873)aagfs	p.K291fs	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	291					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCAAATCTGCTTTTTAAATTC	0.498																																							uc001msk.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(871-873)AAGfs		potassium voltage-gated channel, shaker-related							53.0	50.0	51.0					11																	30033354		1884	4114	5998	SO:0001589	frameshift_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033354delT	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.872delA	11.37:g.30033354delT	ENSP00000328511:p.Lys291fs						p.K291fs	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	2024	-			291						Frame_Shift_Del	DEL	ENST00000328224.6	37	c.872delA	CCDS41629.1																																																																																				0.498	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		8	74	NA	NA	NA	NA	NA	8	74	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:14019043_14019044insG	ENST00000609686.1	-	2	308_309	c.99_100insC	c.(97-102)cccagcfs	p.S34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					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)			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)	ATGCCAATGCTGGGGGGGCTCT	0.589																																							uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(97-102)CCCAGCfs		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001589	frameshift_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.chr12:14019043_14019044insG		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.100dupC	12.37:g.14019050_14019050dupG	ENSP00000477455:p.Ser34fs						p.P33fs	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			2	278_279	-			33_34			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Ins	INS	ENST00000609686.1	37	c.99_100insC	CCDS8662.1																																																																																				0.589	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			14	107	NA	NA	NA	NA	NA	14	107	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400636	78400636	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:78400636delC	ENST00000397909.2	+	8	1491	c.1318delC	c.(1318-1320)cccfs	p.P440fs	NAV3_ENST00000266692.7_Frame_Shift_Del_p.P440fs|NAV3_ENST00000536525.2_Frame_Shift_Del_p.P440fs|NAV3_ENST00000228327.6_Frame_Shift_Del_p.P440fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	440						membrane (GO:0016020)|nuclear envelope (GO:0005635)				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						AAATAGCAGTCCCAAAGTGTC	0.423										HNSCC(70;0.22)																													uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1318-1320)CCCfs		neuron navigator 3							107.0	104.0	105.0					12																	78400636		1907	4122	6029	SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400636delC	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.1318delC	12.37:g.78400636delC	ENSP00000381007:p.Pro440fs	HNSCC(70;0.22)				NAV3_uc001syo.2_Frame_Shift_Del_p.P440fs	p.P440fs	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1491	+			440					Q8NFW7|Q9Y2E7	Frame_Shift_Del	DEL	ENST00000397909.2	37	c.1318delC																																																																																					0.423	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		58	120	NA	NA	NA	NA	NA	58	120	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78531021	78531021	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:78531021delC	ENST00000397909.2	+	19	4679	c.4506delC	c.(4504-4506)atcfs	p.I1502fs	NAV3_ENST00000266692.7_Frame_Shift_Del_p.I1325fs|NAV3_ENST00000536525.2_Frame_Shift_Del_p.I1502fs|NAV3_ENST00000228327.6_Frame_Shift_Del_p.I1502fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1502	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				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						CAAACAGCATCCCAGCCCAAG	0.493										HNSCC(70;0.22)																													uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4504-4506)ATCfs		neuron navigator 3							107.0	107.0	107.0					12																	78531021		1913	4127	6040	SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78531021delC	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.4506delC	12.37:g.78531021delC	ENSP00000381007:p.Ile1502fs	HNSCC(70;0.22)				NAV3_uc001syo.2_Frame_Shift_Del_p.I1502fs|NAV3_uc010sub.1_Frame_Shift_Del_p.I988fs|NAV3_uc009zsf.2_Frame_Shift_Del_p.I333fs	p.I1502fs	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			19	4679	+			1502			Ser-rich.		Q8NFW7|Q9Y2E7	Frame_Shift_Del	DEL	ENST00000397909.2	37	c.4506delC																																																																																					0.493	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		23	88	NA	NA	NA	NA	NA	23	88	---	---	---	---
SVOP	55530	broad.mit.edu	37	12	109332670	109332671	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:109332670_109332671insT	ENST00000299134.5	-	7	632_633	c.633_634insA	c.(631-636)ccacctfs	p.P212fs		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)			breast(2)|lung(4)	6						CCTCTTTAAGGTGGCGATTGCC	0.54																																							uc010sxh.1		NA																	0					0						c.(829-831)ACCfs		SV2 related protein																																				SO:0001589	frameshift_variant	55530					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity	g.chr12:109332670_109332671insT	BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.634dupA	12.37:g.109332671_109332671dupT	ENSP00000299134:p.Pro212fs						p.T277fs	NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN			8	1001_1002	-			277			Cytoplasmic (Potential).		Q9NPW5	Frame_Shift_Ins	INS	ENST00000299134.5	37	c.829_830insA																																																																																					0.540	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000403982.1	NM_018711		64	269	NA	NA	NA	NA	NA	64	269	---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24196453	24196453	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:24196453delG	ENST00000321728.7	+	14	1730	c.1555delG	c.(1555-1557)gggfs	p.G519fs	PRKCB_ENST00000303531.7_Frame_Shift_Del_p.G519fs	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	519	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TCAGCCCTATGGGAAGTCCGT	0.433																																							uc002dmd.2		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1555-1557)GGGfs		protein kinase C, beta isoform 1	Vitamin E(DB00163)						187.0	174.0	178.0					16																	24196453		2197	4300	6497	SO:0001589	frameshift_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24196453delG	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1555delG	16.37:g.24196453delG	ENSP00000318315:p.Gly519fs					PRKCB_uc002dme.2_Frame_Shift_Del_p.G519fs	p.G519fs	NM_212535	NP_997700	P05771	KPCB_HUMAN			14	1752	+			519			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Frame_Shift_Del	DEL	ENST00000321728.7	37	c.1555delG	CCDS10618.1																																																																																				0.433	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		20	223	NA	NA	NA	NA	NA	20	223	---	---	---	---
NR1D1	9572	broad.mit.edu	37	17	38252783	38252783	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:38252783delC	ENST00000246672.3	-	4	1147	c.517delG	c.(517-519)gagfs	p.E173fs		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	173	Crucial for activation of GJA1. {ECO:0000250}.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GAGCAATTCTCATTCTTCAGA	0.547																																							uc002htz.1		NA																	0				skin(1)	1						c.(517-519)GAGfs		nuclear receptor subfamily 1, group D, member 1							160.0	137.0	145.0					17																	38252783		2203	4300	6503	SO:0001589	frameshift_variant	9572				cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38252783delC	X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.517delG	17.37:g.38252783delC	ENSP00000246672:p.Glu173fs					NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_Frame_Shift_Del_p.M1fs	p.E173fs	NM_021724	NP_068370	P20393	NR1D1_HUMAN			4	1143	-	Colorectal(19;0.000442)		173			NR C4-type.|Nuclear receptor.		Q0P5Z4|Q15304	Frame_Shift_Del	DEL	ENST00000246672.3	37	c.517delG	CCDS11361.1																																																																																				0.547	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1			26	96	NA	NA	NA	NA	NA	26	96	---	---	---	---
HOXB6	3216	broad.mit.edu	37	17	46673903	46673903	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:46673903delG	ENST00000484302.2	-	3	1169	c.547delC	c.(547-549)ctgfs	p.L183fs	HOXB6_ENST00000490419.1_5'Flank|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB6_ENST00000225648.3_Frame_Shift_Del_p.L183fs|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB5_ENST00000239151.5_5'Flank|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000465846.2_RNA			P17509	HXB6_HUMAN	homeobox B6	183					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte homeostasis (GO:0034101)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						GTCAGGCACAGGGCGTGCGCG	0.582																																							uc002ins.1		NA																	0					0						c.(547-549)CTGfs		homeobox B6							161.0	145.0	150.0					17																	46673903		2203	4300	6503	SO:0001589	frameshift_variant	3216				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46673903delG		CCDS11531.1	17q21.32	2011-06-20	2005-12-22		ENSG00000108511	ENSG00000108511		"""Homeoboxes / ANTP class : HOXL subclass"""	5117	protein-coding gene	gene with protein product		142961	"""homeo box B6"""	HOX2, HOX2B		1973146, 1358459	Standard	XM_005257284		Approved		uc002ins.1	P17509	OTTHUMG00000159912	ENST00000484302.2:c.547delC	17.37:g.46673903delG	ENSP00000420009:p.Leu183fs					HOXB5_uc002inr.2_5'Flank|HOXB6_uc010dbh.1_Frame_Shift_Del_p.L183fs|HOXB6_uc002int.1_3'UTR	p.L183fs	NM_018952	NP_061825	P17509	HXB6_HUMAN			4	872	-			183			Homeobox.		A8K835|D3DTV5|P09068|Q9HB11|Q9UGH2	Frame_Shift_Del	DEL	ENST00000484302.2	37	c.547delC	CCDS11531.1																																																																																				0.582	HOXB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358146.2			38	268	NA	NA	NA	NA	NA	38	268	---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48273981	48273989	+	In_Frame_Del	DEL	AGGACCAGC	AGGACCAGC	-	rs72645337|rs72645336		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	AGGACCAGC	AGGACCAGC	-	-	AGGACCAGC	AGGACCAGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:48273981_48273989delAGGACCAGC	ENST00000225964.5	-	12	965_973	c.847_855delGCTGGTCCT	c.(847-855)gctggtcctdel	p.AGP283del		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	283	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CTCTTACCTTAGGACCAGCAGGACCAGCA	0.507			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																																uc002iqm.2		NA		Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	0				soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382	GRCh37	CM070723|CM070750	COL1A1	M	rs72645336|rs72645337	c.(847-855)GCTGGTCCTdel		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)																																			SO:0001651	inframe_deletion	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48273981_48273989delAGGACCAGC	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.847_855delGCTGGTCCT	17.37:g.48273990_48273998delAGGACCAGC	ENSP00000225964:p.Ala283_Pro285del						p.AGP283del	NM_000088	NP_000079	P02452	CO1A1_HUMAN			12	973_981	-			283_285			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	In_Frame_Del	DEL	ENST00000225964.5	37	c.847_855delGCTGGTCCT	CCDS11561.1																																																																																				0.507	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			18	464	NA	NA	NA	NA	NA	18	464	---	---	---	---
REV1	51455	broad.mit.edu	37	2	100027159	100027159	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:100027159delG	ENST00000258428.3	-	14	2571	c.2343delC	c.(2341-2343)gccfs	p.A781fs	REV1_ENST00000393445.3_Frame_Shift_Del_p.A780fs|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	781					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGCTTACCTGGCAATGTTAT	0.378								Direct reversal of damage																															uc002tad.2		NA																	0				ovary(2)	2						c.(2341-2343)GCCfs	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	REV1-like isoform 1							107.0	103.0	105.0					2																	100027159		2203	4300	6503	SO:0001589	frameshift_variant	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100027159delG	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2343delC	2.37:g.100027159delG	ENSP00000258428:p.Ala781fs					REV1_uc002tac.2_Frame_Shift_Del_p.A780fs	p.A781fs	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			14	2555	-			781					O95941|Q53SI7|Q9C0J4|Q9NUP2	Frame_Shift_Del	DEL	ENST00000258428.3	37	c.2343delC	CCDS2045.1																																																																																				0.378	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		9	231	NA	NA	NA	NA	NA	9	231	---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109087055	109087056	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:109087055_109087056delAG	ENST00000309863.6	+	6	1984_1985	c.1270_1271delAG	c.(1270-1272)agafs	p.R424fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	424					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACAGCATAACAGAGAAGTACAG	0.292																																							uc002tec.2		NA																	0				ovary(1)	1						c.(1270-1272)AGAfs		GRIP and coiled-coil domain-containing 2																																				SO:0001589	frameshift_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109087055_109087056delAG	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1270_1271delAG	2.37:g.109087057_109087058delAG	ENSP00000307939:p.Arg424fs					GCC2_uc002ted.2_Frame_Shift_Del_p.R323fs	p.R424fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			6	1424_1425	+			424			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Frame_Shift_Del	DEL	ENST00000309863.6	37	c.1270_1271delAG	CCDS33268.1																																																																																				0.292	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		7	87	NA	NA	NA	NA	NA	7	87	---	---	---	---
PTGIS	5740	broad.mit.edu	37	20	48140741	48140741	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:48140741delG	ENST00000244043.4	-	6	738	c.709delC	c.(709-711)ctgfs	p.L237fs	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	237					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	AGCTTCCACAGGCGACTTTTG	0.607																																							uc002xut.2		NA																	0				skin(2)|ovary(1)	3						c.(709-711)CTGfs		prostaglandin I2 synthase	Phenylbutazone(DB00812)						82.0	80.0	81.0					20																	48140741		2203	4300	6503	SO:0001589	frameshift_variant	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48140741delG		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.709delC	20.37:g.48140741delG	ENSP00000244043:p.Leu237fs					PTGIS_uc010zyi.1_Frame_Shift_Del_p.L98fs	p.L237fs	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		6	763	-			237					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Frame_Shift_Del	DEL	ENST00000244043.4	37	c.709delC	CCDS13419.1																																																																																				0.607	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			18	161	NA	NA	NA	NA	NA	18	161	---	---	---	---
PPIL2	23759	broad.mit.edu	37	22	22039174	22039176	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:22039174_22039176delAGA	ENST00000335025.8	+	10	777_779	c.686_688delAGA	c.(685-690)gagaag>gag	p.K232del	PPIL2_ENST00000398831.3_In_Frame_Del_p.K232del|PPIL2_ENST00000412327.1_In_Frame_Del_p.K232del|PPIL2_ENST00000406385.1_In_Frame_Del_p.K232del|PPIL2_ENST00000492445.2_In_Frame_Del_p.K232del|PPIL2_ENST00000456792.2_In_Frame_Del_p.K211del					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AAGGCCCCGGAGAAGAAGAAAGT	0.571																																							uc010gtj.1		NA																	0				ovary(2)	2						c.(685-690)GAGAAG>GAG		peptidylprolyl isomerase-like 2 isoform a																																				SO:0001651	inframe_deletion	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22039174_22039176delAGA		CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"""U-box domain containing"""	9261	protein-coding gene	gene with protein product	"""U-box domain containing 7"""	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.686_688delAGA	22.37:g.22039180_22039182delAGA	ENSP00000334553:p.Lys232del					PPIL2_uc002zvh.3_In_Frame_Del_p.K232del|PPIL2_uc002zvi.3_In_Frame_Del_p.K232del|PPIL2_uc002zvg.3_In_Frame_Del_p.K232del|PPIL2_uc011aij.1_In_Frame_Del_p.K211del|PPIL2_uc002zvk.3_5'Flank	p.K232del	NM_148175	NP_680480	Q13356	PPIL2_HUMAN			10	802_804	+	Colorectal(54;0.105)		232						In_Frame_Del	DEL	ENST00000335025.8	37	c.686_688delAGA	CCDS13793.1																																																																																				0.571	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			22	54	NA	NA	NA	NA	NA	22	54	---	---	---	---
TCN2	6948	broad.mit.edu	37	22	31013404	31013407	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	ACAG	ACAG	-	-	ACAG	ACAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:31013404_31013407delACAG	ENST00000215838.3	+	7	1522_1525	c.1028_1031delACAG	c.(1027-1032)tacagafs	p.YR343fs	TCN2_ENST00000405742.3_Frame_Shift_Del_p.YR339fs|TCN2_ENST00000407817.3_Frame_Shift_Del_p.YR316fs			P20062	TCO2_HUMAN	transcobalamin II	343					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGCCGCCGTACAGACAGTCCATC	0.559																																							uc003aip.1		NA																	0				central_nervous_system(1)	1						c.(1027-1032)TACAGAfs		transcobalamin II precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)																																			SO:0001589	frameshift_variant	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31013404_31013407delACAG		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.1028_1031delACAG	22.37:g.31013408_31013411delACAG	ENSP00000215838:p.Tyr343fs					TCN2_uc003aiq.1_Frame_Shift_Del_p.Y339fs|TCN2_uc003air.1_Frame_Shift_Del_p.Y316fs	p.Y343fs	NM_000355	NP_000346	P20062	TCO2_HUMAN			7	1186_1189	+			343_344					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Frame_Shift_Del	DEL	ENST00000215838.3	37	c.1028_1031delACAG	CCDS13881.1																																																																																				0.559	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		11	93	NA	NA	NA	NA	NA	11	93	---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35750461	35750461	+	Splice_Site	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:35750461delC	ENST00000187397.4	+	11	1252	c.796delC	c.(796-798)caa>aa	p.Q266fs	ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000417925.1_Intron|ARPP21_ENST00000337271.5_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	266	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TTCTGTTCAGCAAAACAGAAT	0.368																																							uc003cgb.2		NA																	0				ovary(2)|skin(1)	3						c.(796-798)CAAfs		cyclic AMP-regulated phosphoprotein, 21 kD							89.0	89.0	89.0					3																	35750461		2203	4300	6503	SO:0001630	splice_region_variant	10777					cytoplasm	nucleic acid binding	g.chr3:35750461delC	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.796-1C>-	3.37:g.35750461delC						ARPP21_uc003cga.2_Intron|ARPP21_uc011axy.1_Intron|ARPP21_uc003cgf.2_Intron	p.Q266fs	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			11	1060	+			266					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Frame_Shift_Del	DEL	ENST00000187397.4	37	c.796delC	CCDS2661.1																																																																																				0.368	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399	Frame_Shift_Del	7	53	NA	NA	NA	NA	NA	7	53	---	---	---	---
CCR5	1234	broad.mit.edu	37	3	46415173	46415173	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:46415173delC	ENST00000292303.4	+	2	926	c.780delC	c.(778-780)ttcfs	p.F260fs	CCR5_ENST00000343801.4_Frame_Shift_Del_p.F260fs|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Frame_Shift_Del_p.F260fs	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	260					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TGAACACCTTCCAGGAATTCT	0.473																																							uc003cpo.3		NA																	0				lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(778-780)TTCfs		chemokine (C-C motif) receptor 5	Maraviroc(DB04835)						235.0	249.0	244.0					3																	46415173		2203	4296	6499	SO:0001589	frameshift_variant	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46415173delC		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.780delC	3.37:g.46415173delC	ENSP00000292303:p.Phe260fs					CCR5_uc010hjd.2_Frame_Shift_Del_p.F260fs	p.F260fs	NM_001100168	NP_001093638	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	3	902	+			260			Helical; Name=6; (Potential).		O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Frame_Shift_Del	DEL	ENST00000292303.4	37	c.780delC	CCDS2739.1																																																																																				0.473	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2	NM_000579		68	488	NA	NA	NA	NA	NA	68	488	---	---	---	---
FEZF2	55079	broad.mit.edu	37	3	62358243	62358243	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:62358243delC	ENST00000283268.3	-	2	595	c.301delG	c.(301-303)gcgfs	p.A101fs	FEZF2_ENST00000486811.1_Frame_Shift_Del_p.A101fs|FEZF2_ENST00000475839.1_Frame_Shift_Del_p.A101fs	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	101					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)			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)		ccgccgccCGCCCGGAGGCTG	0.716																																					NSCLC(170;1772 2053 12525 15604 23984)	NSCLC(170;1772 2053 12525 15604 23984)	uc003dlh.2		NA																	0				lung(1)	1						c.(301-303)GCGfs		FEZ family zinc finger 2							8.0	10.0	9.0					3																	62358243		2156	4247	6403	SO:0001589	frameshift_variant	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62358243delC	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.301delG	3.37:g.62358243delC	ENSP00000283268:p.Ala101fs					FEZF2_uc003dli.2_Frame_Shift_Del_p.A101fs	p.A101fs	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)	1	508	-		Lung SC(41;0.0262)	101					A8K349|Q9BZ91|Q9NWB9	Frame_Shift_Del	DEL	ENST00000283268.3	37	c.301delG	CCDS2897.1																																																																																				0.716	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		11	13	NA	NA	NA	NA	NA	11	13	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57182816	57182817	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:57182816_57182817insA	ENST00000504228.1	+	6	3253_3254	c.3148_3149insA	c.(3148-3150)caafs	p.Q1050fs	KIAA1211_ENST00000541073.1_Frame_Shift_Ins_p.Q1043fs|KIAA1211_ENST00000264229.6_Frame_Shift_Ins_p.Q1050fs			Q6ZU35	K1211_HUMAN	KIAA1211	1050										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TGCCACTCAGCAAGAGAAACCT	0.609																																							uc003hbk.2		NA																	0				ovary(1)|skin(1)	2						c.(3148-3150)CAAfs		hypothetical protein LOC57482																																				SO:0001589	frameshift_variant	57482							g.chr4:57182816_57182817insA	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3150dupA	4.37:g.57182818_57182818dupA	ENSP00000423366:p.Gln1050fs					KIAA1211_uc010iha.2_Frame_Shift_Ins_p.Q1043fs|KIAA1211_uc011bzz.1_Frame_Shift_Ins_p.Q960fs|KIAA1211_uc003hbm.1_Frame_Shift_Ins_p.Q936fs	p.Q1050fs	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	3539_3540	+	Glioma(25;0.08)|all_neural(26;0.101)		1050					Q9NTE2|Q9NTP8|Q9ULK9	Frame_Shift_Ins	INS	ENST00000504228.1	37	c.3148_3149insA	CCDS43230.1																																																																																				0.609	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		10	51	NA	NA	NA	NA	NA	10	51	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82815951	82815966	+	Frame_Shift_Del	DEL	TAATTATGCCTGATAA	TAATTATGCCTGATAA	-	rs369865559|rs138840154	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	TAATTATGCCTGATAA	TAATTATGCCTGATAA	-	-	TAATTATGCCTGATAA	TAATTATGCCTGATAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:82815951_82815966delTAATTATGCCTGATAA	ENST00000265077.3	+	7	2391_2406	c.1826_1841delTAATTATGCCTGATAA	c.(1825-1842)ttaattatgcctgataatfs	p.LIMPDN609fs	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Frame_Shift_Del_p.LIMPDN561fs|VCAN_ENST00000342785.4_Frame_Shift_Del_p.LIMPDN609fs|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	609	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GTTTCCCCTTTAATTATGCCTGATAATAATGGATCA	0.412																																							uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(1825-1842)TTAATTATGCCTGATAATfs		versican isoform 1 precursor																																				SO:0001589	frameshift_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815951_82815966delTAATTATGCCTGATAA	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1826_1841delTAATTATGCCTGATAA	5.37:g.82815951_82815966delTAATTATGCCTGATAA	ENSP00000265077:p.Leu609fs					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Frame_Shift_Del_p.L609fs|VCAN_uc003kik.3_Intron	p.L609fs	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2182_2197	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	609_614			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Frame_Shift_Del	DEL	ENST00000265077.3	37	c.1826_1841delTAATTATGCCTGATAA	CCDS4060.1																																																																																				0.412	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		10	129	NA	NA	NA	NA	NA	10	129	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118556759	118556759	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:118556759delG	ENST00000311085.8	+	36	8277	c.8197delG	c.(8197-8199)ggcfs	p.G2733fs	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Frame_Shift_Del_p.G2754fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2733										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TACACAGACTGGCAGAGGAGC	0.363																																							uc003ksd.2		NA																	0				ovary(2)	2						c.(8197-8199)GGCfs		Dmx-like 1							66.0	59.0	61.0					5																	118556759		2202	4300	6502	SO:0001589	frameshift_variant	1657							g.chr5:118556759delG	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8197delG	5.37:g.118556759delG	ENSP00000309690:p.Gly2733fs					DMXL1_uc010jcl.1_Frame_Shift_Del_p.G2754fs	p.G2733fs	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	36	8378	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2733						Frame_Shift_Del	DEL	ENST00000311085.8	37	c.8197delG	CCDS4125.1																																																																																				0.363	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		7	35	NA	NA	NA	NA	NA	7	35	---	---	---	---
TENM2	57451	broad.mit.edu	37	5	167674040	167674040	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:167674040delC	ENST00000518659.1	+	27	6135	c.6096delC	c.(6094-6096)gtcfs	p.V2032fs	TENM2_ENST00000520394.1_Frame_Shift_Del_p.V1793fs|TENM2_ENST00000403607.2_Frame_Shift_Del_p.V1856fs|TENM2_ENST00000519204.1_Frame_Shift_Del_p.V1911fs|TENM2_ENST00000545108.1_Frame_Shift_Del_p.V2031fs	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2032					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CAGAGATTGTCTACGACAGTA	0.532																																							uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(6067-6069)GTCfs		odz, odd Oz/ten-m homolog 2							83.0	82.0	82.0					5																	167674040		1918	4133	6051	SO:0001589	frameshift_variant	57451							g.chr5:167674040delC	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6096delC	5.37:g.167674040delC	ENSP00000429430:p.Val2032fs					ODZ2_uc003lzr.3_Frame_Shift_Del_p.V1793fs|ODZ2_uc003lzt.3_Frame_Shift_Del_p.V1396fs|ODZ2_uc010jje.2_Frame_Shift_Del_p.V1287fs	p.V2023fs	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	27	6069	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Frame_Shift_Del	DEL	ENST00000518659.1	37	c.6069delC																																																																																					0.532	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		30	81	NA	NA	NA	NA	NA	30	81	---	---	---	---
GOPC	57120	broad.mit.edu	37	6	117896421	117896421	+	Frame_Shift_Del	DEL	C	C	-	rs374207248		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:117896421delC	ENST00000368498.2	-	4	644	c.569delG	c.(568-570)cgtfs	p.R191fs	GOPC_ENST00000467125.1_5'Flank|GOPC_ENST00000535237.1_Frame_Shift_Del_p.R191fs|GOPC_ENST00000052569.6_Frame_Shift_Del_p.R183fs	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	191					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TATATGTCTACGAAGGGCTTC	0.408			O	ROS1	glioblastoma																																		uc003pxu.2		NA		Dom	yes		6	6q21	57120	O	golgi associated PDZ and coiled-coil motif containing			O	ROS1		glioblastoma		0				ovary(1)	1						c.(568-570)CGTfs		golgi associated PDZ and coiled-coil motif							142.0	124.0	130.0					6																	117896421		2203	4300	6503	SO:0001589	frameshift_variant	57120				apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport	cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle	cystic fibrosis transmembrane conductance regulator binding	g.chr6:117896421delC	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.569delG	6.37:g.117896421delC	ENSP00000357484:p.Arg191fs					GOPC_uc003pxq.1_5'Flank|GOPC_uc003pxv.2_Frame_Shift_Del_p.R182fs	p.R190fs	NM_020399	NP_065132	Q9HD26	GOPC_HUMAN		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)	4	799	-		all_cancers(87;0.00844)|all_epithelial(87;0.0242)	190			Potential.		A6NM30|Q59FS4|Q969U8	Frame_Shift_Del	DEL	ENST00000368498.2	37	c.569delG	CCDS5117.1																																																																																				0.408	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		9	84	NA	NA	NA	NA	NA	9	84	---	---	---	---
SERAC1	84947	broad.mit.edu	37	6	158571537	158571537	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:158571537delC	ENST00000367104.3	-	4	344	c.213delG	c.(211-213)atgfs	p.M71fs	SERAC1_ENST00000367102.2_Frame_Shift_Del_p.M71fs|SERAC1_ENST00000607000.1_Frame_Shift_Del_p.M71fs|SERAC1_ENST00000367101.1_Frame_Shift_Del_p.M71fs	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	71					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TATATGACTTCATTTTTTCTC	0.328																																							uc003qrc.2		NA																	0					0						c.(211-213)ATGfs		serine active site containing 1							106.0	106.0	106.0					6																	158571537		2203	4299	6502	SO:0001589	frameshift_variant	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158571537delC	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.213delG	6.37:g.158571537delC	ENSP00000356071:p.Met71fs					SERAC1_uc003qrb.2_5'UTR	p.M71fs	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	4	355	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	71					Q49AT1|Q5VTX3|Q6PKF3	Frame_Shift_Del	DEL	ENST00000367104.3	37	c.213delG	CCDS5255.1																																																																																				0.328	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		21	86	NA	NA	NA	NA	NA	21	86	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91625048	91625049	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:91625048_91625049insA	ENST00000359028.2	+	8	1125_1126	c.900_901insA	c.(901-903)aaafs	p.K301fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.K289fs|AKAP9_ENST00000394564.1_Frame_Shift_Ins_p.K289fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.K301fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	301					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGATTATCAGAAAAAGAAAGA	0.347			T	BRAF	papillary thyroid																																		uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(862-867)CAGAAAfs		A-kinase anchor protein 9 isoform 2																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91625048_91625049insA	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.905dupA	7.37:g.91625053_91625053dupA	ENSP00000351922:p.Lys301fs					AKAP9_uc003uld.3_Frame_Shift_Ins_p.Q288fs|AKAP9_uc003ule.2_Frame_Shift_Ins_p.Q300fs|AKAP9_uc003ulf.2_Frame_Shift_Ins_p.Q288fs	p.Q288fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		7	1089_1090	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		300_301			Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Ins	INS	ENST00000359028.2	37	c.864_865insA																																																																																					0.347	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		7	103	NA	NA	NA	NA	NA	7	103	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100283029	100283029	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:100283029delG	ENST00000275732.5	-	10	2339	c.1130delC	c.(1129-1131)ccafs	p.P377fs	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	377					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCCCCAGAGTGGGCCCAGGGT	0.642																																							uc003uwg.1		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1129-1131)CCAfs		PERQ amino acid rich, with GYF domain 1							44.0	46.0	45.0					7																	100283029		2203	4300	6503	SO:0001589	frameshift_variant	64599							g.chr7:100283029delG	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1130delC	7.37:g.100283029delG	ENSP00000275732:p.Pro377fs						p.P377fs	NM_022574	NP_072096	O75420	PERQ1_HUMAN			10	2139	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		377					Q6Y7W7|Q8WZ38	Frame_Shift_Del	DEL	ENST00000275732.5	37	c.1130delC	CCDS34708.1																																																																																				0.642	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		10	132	NA	NA	NA	NA	NA	10	132	---	---	---	---
MYL10	93408	broad.mit.edu	37	7	101265420	101265421	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	AT	AT	-	-	AT	AT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:101265420_101265421delAT	ENST00000223167.4	-	5	586_587	c.409_410delAT	c.(409-411)atcfs	p.I137fs		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	137						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CGTGAAGTTGATGGGTCCGGGG	0.609																																					Esophageal Squamous(24;575 709 17516 40384 51639)	Esophageal Squamous(24;575 709 17516 40384 51639)	uc003uyr.2		NA																	0				ovary(1)|breast(1)	2						c.(409-411)ATCfs		myosin, light chain 10, regulatory																																				SO:0001589	frameshift_variant	93408					mitochondrion	calcium ion binding	g.chr7:101265420_101265421delAT	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.409_410delAT	7.37:g.101265420_101265421delAT	ENSP00000223167:p.Ile137fs						p.I137fs	NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN			5	587_588	-			137						Frame_Shift_Del	DEL	ENST00000223167.4	37	c.409_410delAT	CCDS34713.1																																																																																				0.609	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		12	203	NA	NA	NA	NA	NA	12	203	---	---	---	---
COG5	10466	broad.mit.edu	37	7	107204325	107204325	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:107204325delC	ENST00000347053.3	-	1	160	c.110delG	c.(109-111)ggcfs	p.G37fs	DUS4L_ENST00000402620.1_5'Flank|DUS4L_ENST00000265720.3_5'Flank|DUS4L_ENST00000498786.1_Intron|COG5_ENST00000297135.3_Frame_Shift_Del_p.G37fs|COG5_ENST00000393603.2_Frame_Shift_Del_p.G37fs	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	37					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						AGCGACGCTGCCGCCGCCACC	0.677																																							uc003ved.2		NA																	0				central_nervous_system(2)|skin(2)	4						c.(109-111)GGCfs		component of oligomeric golgi complex 5 isoform							28.0	29.0	28.0					7																	107204325		2193	4280	6473	SO:0001589	frameshift_variant	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107204325delC	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.110delG	7.37:g.107204325delC	ENSP00000334703:p.Gly37fs					COG5_uc003vec.2_Frame_Shift_Del_p.G37fs|COG5_uc003vee.2_Frame_Shift_Del_p.G37fs|DUS4L_uc003veg.2_5'Flank|DUS4L_uc003veh.2_5'Flank|DUS4L_uc011klw.1_5'Flank|DUS4L_uc011klx.1_5'Flank	p.G37fs	NM_181733	NP_859422	Q9UP83	COG5_HUMAN			1	635	-			37					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Frame_Shift_Del	DEL	ENST00000347053.3	37	c.110delG	CCDS5743.1																																																																																				0.677	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			12	81	NA	NA	NA	NA	NA	12	81	---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37728847	37728856	+	Frame_Shift_Del	DEL	GTCTCCGAGG	GTCTCCGAGG	-	rs551378650|rs75558150|rs530374385		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	GTCTCCGAGG	GTCTCCGAGG	-	-	GTCTCCGAGG	GTCTCCGAGG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:37728847_37728856delGTCTCCGAGG	ENST00000330843.4	-	4	3476_3485	c.3464_3473delCCTCGGAGAC	c.(3463-3474)ccctcggagacafs	p.PSET1155fs	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1155					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GACTGGATGTGTCTCCGAGGGTGAGACCCA	0.538											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003xkm.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3463-3474)CCCTCGGAGACAfs		RAB11 family interacting protein 1 isoform 3																																				SO:0001589	frameshift_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37728847_37728856delGTCTCCGAGG	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3464_3473delCCTCGGAGAC	8.37:g.37728847_37728856delGTCTCCGAGG	ENSP00000331342:p.Pro1155fs		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Frame_Shift_Del_p.P484fs|RAB11FIP1_uc003xko.1_Frame_Shift_Del_p.P484fs|RAB11FIP1_uc003xkp.1_Intron	p.P1155fs	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3508_3517	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1155_1158					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Frame_Shift_Del	DEL	ENST00000330843.4	37	c.3464_3473delCCTCGGAGAC	CCDS34882.1																																																																																				0.538	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		15	163	NA	NA	NA	NA	NA	15	163	---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105510050	105510051	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:105510050_105510051insA	ENST00000276654.5	-	5	837_838	c.729_730insT	c.(727-732)attgacfs	p.D244fs	LRP12_ENST00000424843.2_Frame_Shift_Ins_p.D225fs|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	244	LDL-receptor class A 2. {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)			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)			TCAAGGCAGTCAATGTTCCCAT	0.406																																							uc003yma.2		NA																	0					0						c.(727-732)ATTGACfs		low density lipoprotein-related protein 12																																				SO:0001589	frameshift_variant	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105510050_105510051insA	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.730dupT	8.37:g.105510052_105510052dupA	ENSP00000276654:p.Asp244fs					LRP12_uc003ymb.2_Frame_Shift_Ins_p.I224fs|LRP12_uc003ylz.2_5'Flank	p.I243fs	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	824_825	-			243_244			Extracellular (Potential).|LDL-receptor class A 2.		A8K137|B4DRQ2	Frame_Shift_Ins	INS	ENST00000276654.5	37	c.729_730insT	CCDS6303.1																																																																																				0.406	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		23	182	NA	NA	NA	NA	NA	23	182	---	---	---	---
ZFAT	57623	broad.mit.edu	37	8	135669873	135669874	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:135669873_135669874insA	ENST00000377838.3	-	2	300_301	c.126_127insT	c.(124-129)gttgatfs	p.D43fs	ZFAT_ENST00000523399.1_Frame_Shift_Ins_p.D43fs|ZFAT_ENST00000429442.2_Frame_Shift_Ins_p.D31fs|ZFAT_ENST00000520727.1_Frame_Shift_Ins_p.D31fs|ZFAT_ENST00000520214.1_Frame_Shift_Ins_p.D31fs|ZFAT_ENST00000520356.1_Frame_Shift_Ins_p.D31fs	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	43					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ATAATCTCATCAACATTAACCC	0.5																																							uc003yup.2		NA																	0				central_nervous_system(1)	1						c.(124-129)GTTGATfs		zinc finger protein 406 isoform ZFAT-1																																				SO:0001589	frameshift_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135669873_135669874insA	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.127dupT	8.37:g.135669875_135669875dupA	ENSP00000367069:p.Asp43fs					ZFAT_uc003yun.2_Frame_Shift_Ins_p.V30fs|ZFAT_uc003yuo.2_Frame_Shift_Ins_p.V30fs|ZFAT_uc010meh.2_Frame_Shift_Ins_p.V30fs|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Frame_Shift_Ins_p.V30fs|ZFAT_uc010mej.2_Frame_Shift_Ins_p.V42fs|ZFAT_uc003yur.2_Frame_Shift_Ins_p.V30fs	p.V42fs	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		2	301_302	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		42_43					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Frame_Shift_Ins	INS	ENST00000377838.3	37	c.126_127insT	CCDS47924.1																																																																																				0.500	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		17	121	NA	NA	NA	NA	NA	17	121	---	---	---	---
TGIF2LX	90316	broad.mit.edu	37	X	89177383	89177383	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:89177383delG	ENST00000561129.2	+	1	429	c.299delG	c.(298-300)tggfs	p.W100fs	TGIF2LX_ENST00000283891.5_Frame_Shift_Del_p.W100fs			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ATTTCTAACTGGTTTATCAAT	0.468																																							uc004efe.2		NA																	0				ovary(1)|skin(1)	2						c.(298-300)TGGfs		TGFB-induced factor homeobox 2-like, X-linked							207.0	181.0	190.0					X																	89177383		2203	4299	6502	SO:0001589	frameshift_variant	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177383delG	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.299delG	X.37:g.89177383delG	ENSP00000453704:p.Trp100fs						p.W100fs	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	348	+			100			Homeobox; TALE-type.		Q5JRM9|Q8TD48	Frame_Shift_Del	DEL	ENST00000561129.2	37	c.299delG	CCDS14459.1																																																																																				0.468	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		43	275	NA	NA	NA	NA	NA	43	275	---	---	---	---
