#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PANK4	55229	broad.mit.edu	37	1	2451776	2451776	+	Silent	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr1:2451776C>A	ENST00000378466.3	-	5	696	c.684G>T	c.(682-684)ctG>ctT	p.L228L	PANK4_ENST00000491212.1_5'Flank|PANK4_ENST00000435556.3_Silent_p.L189L	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	228					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TTTTGGTGAGCAGAGCGCCAA	0.647																																						uc001ajm.1		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3						c.(682-684)CTG>CTT		pantothenate kinase 4							53.0	54.0	53.0					1																	2451776		2202	4300	6502	SO:0001819	synonymous_variant	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2451776C>A	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.684G>T	1.37:g.2451776C>A						PANK4_uc010nza.1_Silent_p.L189L	p.L228L	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	5	693	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	228					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Silent	SNP	ENST00000378466.3	37	c.684G>T	CCDS42.1																																																																																				0.647	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			13	50	1	0	3.27e-08	5.4e-08	13	50				
UBE4B	10277	broad.mit.edu	37	1	10209286	10209286	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr1:10209286C>T	ENST00000253251.8	+	19	3088	c.2249C>T	c.(2248-2250)gCg>gTg	p.A750V	UBE4B_ENST00000377157.3_Missense_Mutation_p.A634V|UBE4B_ENST00000343090.6_Missense_Mutation_p.A879V					ubiquitination factor E4B											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)		GTATTTGCAGCGTTGCCTGAG	0.289																																						uc001aqs.3		NA																	0				ovary(2)|skin(2)	4						c.(2635-2637)GCG>GTG		ubiquitination factor E4B isoform 1							138.0	143.0	141.0					1																	10209286		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.chr1:10209286C>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.2249C>T	1.37:g.10209286C>T	ENSP00000253251:p.Ala750Val					UBE4B_uc001aqr.3_Missense_Mutation_p.A750V|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.A334V|UBE4B_uc001aqt.1_Missense_Mutation_p.A219V	p.A879V	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)	20	3349	+		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)	879						Missense_Mutation	SNP	ENST00000253251.8	37	c.2636C>T	CCDS110.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564655	0.86439	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.40756	1.02;1.02;1.02	5.92	5.92	0.95590	Ubiquitin conjugation factor E4, core (1);	0.047423	0.85682	D	0.000000	T	0.45935	0.1367	L	0.45137	1.4	0.80722	D	1	B;D;B	0.63880	0.028;0.993;0.023	B;P;B	0.48738	0.013;0.588;0.008	T	0.11494	-1.0585	10	0.20046	T	0.44	-17.1236	20.33	0.98713	0.0:1.0:0.0:0.0	.	750;879;750	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	V	750;634;879	ENSP00000253251:A750V;ENSP00000366362:A634V;ENSP00000343001:A879V	ENSP00000253251:A750V	A	+	2	0	UBE4B	10131873	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.810000	0.96702	0.585000	0.79938	GCG		0.289	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		13	100	0	0	0	0	13	100				
SLC9C2	284525	broad.mit.edu	37	1	173493986	173493986	+	Missense_Mutation	SNP	G	G	T	rs200464845		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr1:173493986G>T	ENST00000367714.3	-	20	2868	c.2446C>A	c.(2446-2448)Cta>Ata	p.L816I	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	816					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AGATTTTTTAGAGCTTTAGCA	0.373																																						uc001giz.2		NA																	0				ovary(2)	2						c.(2446-2448)CTA>ATA		solute carrier family 9, member 11							163.0	160.0	161.0					1																	173493986		2203	4300	6503	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173493986G>T	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2446C>A	1.37:g.173493986G>T	ENSP00000356687:p.Leu816Ile					SLC9A11_uc009wwe.2_Missense_Mutation_p.L374I|SLC9A11_uc010pmq.1_RNA	p.L816I	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			20	2869	-			816					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.2446C>A	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.352870	0.41700	.	.	ENSG00000162753	ENST00000367714	T	0.04654	3.58	5.8	3.94	0.45596	.	0.283163	0.25078	N	0.033314	T	0.03011	0.0089	L	0.60455	1.87	0.80722	D	1	P	0.47106	0.89	B	0.42625	0.393	T	0.42832	-0.9428	10	0.56958	D	0.05	-3.0025	7.9934	0.30254	0.1782:0.0:0.8218:0.0	.	816	Q5TAH2	S9A11_HUMAN	I	816	ENSP00000356687:L816I	ENSP00000356687:L816I	L	-	1	2	SLC9A11	171760609	1.000000	0.71417	0.759000	0.31340	0.172000	0.22775	1.282000	0.33226	1.466000	0.48025	0.585000	0.79938	CTA		0.373	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		13	50	1	0	2.27e-07	3.7e-07	13	50				
AXDND1	126859	broad.mit.edu	37	1	179437611	179437611	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr1:179437611C>G	ENST00000367618.3	+	17	2219	c.1832C>G	c.(1831-1833)tCt>tGt	p.S611C	AXDND1_ENST00000457238.2_3'UTR|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	611										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TTGATTAGTTCTCTTGACTTC	0.299																																						uc001gmo.2		NA																	0					0						c.(1831-1833)TCT>TGT		hypothetical protein LOC126859 isoform 1							57.0	59.0	59.0					1																	179437611		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179437611C>G	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1832C>G	1.37:g.179437611C>G	ENSP00000356590:p.Ser611Cys					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_3'UTR|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.S611C	p.S611C	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			17	1959	+			611					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1832C>G	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	C	5.261	0.233628	0.09969	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.19105	2.17;2.17	4.24	2.34	0.29019	.	1.012140	0.07906	N	0.973483	T	0.19725	0.0474	L	0.52364	1.645	0.09310	N	1	B;B	0.18013	0.015;0.025	B;B	0.16722	0.003;0.016	T	0.28004	-1.0057	10	0.40728	T	0.16	-15.2644	5.8972	0.18945	0.0:0.7011:0.1945:0.1045	.	569;611	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	C	611;569;545	ENSP00000356590:S611C;ENSP00000391716:S545C	ENSP00000353471:S569C	S	+	2	0	AXDND1	177704234	0.046000	0.20272	0.001000	0.08648	0.475000	0.33008	0.620000	0.24403	0.707000	0.31934	0.655000	0.94253	TCT		0.299	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		11	39	0	0	0	0	11	39				
PLXDC2	84898	broad.mit.edu	37	10	20357118	20357118	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr10:20357118A>G	ENST00000377252.4	+	4	1332	c.491A>G	c.(490-492)gAt>gGt	p.D164G	PLXDC2_ENST00000377242.3_Missense_Mutation_p.D115G|PLXDC2_ENST00000377238.2_3'UTR|RP11-575A19.2_ENST00000451584.1_RNA	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	164					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CTGTCCTTCGATTTTCCATTT	0.393																																						uc001iqg.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(490-492)GAT>GGT		plexin domain containing 2 precursor							115.0	105.0	109.0					10																	20357118		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20357118A>G	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.491A>G	10.37:g.20357118A>G	ENSP00000366460:p.Asp164Gly					PLXDC2_uc001iqh.1_Missense_Mutation_p.D115G	p.D164G	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN			4	1128	+			164			Extracellular (Potential).		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.491A>G	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.704679	0.68615	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.76060	-0.99;-0.99	5.85	5.85	0.93711	.	0.041854	0.85682	D	0.000000	T	0.75481	0.3855	M	0.73217	2.22	0.80722	D	1	B;B	0.27264	0.173;0.108	B;B	0.28465	0.09;0.045	T	0.74711	-0.3573	10	0.62326	D	0.03	.	16.2948	0.82765	1.0:0.0:0.0:0.0	.	115;164	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	G	164;115;27;150	ENSP00000366460:D164G;ENSP00000366450:D115G	ENSP00000366446:D27G	D	+	2	0	PLXDC2	20397124	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.404000	0.90210	2.253000	0.74438	0.456000	0.33151	GAT		0.393	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		6	48	0	0	0	0	6	48				
RHOBTB1	9886	broad.mit.edu	37	10	62647977	62647977	+	Silent	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr10:62647977C>T	ENST00000337910.5	-	6	1786	c.1449G>A	c.(1447-1449)acG>acA	p.T483T	RHOBTB1_ENST00000357917.4_Silent_p.T483T	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	483					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CACCCGAGAACGTTCCCTTGC	0.463																																						uc001jli.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1447-1449)ACG>ACA		Rho-related BTB domain containing 1							78.0	75.0	76.0					10																	62647977		2203	4300	6503	SO:0001819	synonymous_variant	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62647977C>T	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1449G>A	10.37:g.62647977C>T						RHOBTB1_uc001jlh.2_Silent_p.T483T|RHOBTB1_uc001jlj.2_Silent_p.T483T|RHOBTB1_uc001jlk.2_Silent_p.T483T|RHOBTB1_uc009xpe.1_Silent_p.T421T|RHOBTB1_uc001jll.2_Silent_p.T233T	p.T483T	NM_014836	NP_055651	O94844	RHBT1_HUMAN			7	1887	-	Prostate(12;0.0112)		483						Silent	SNP	ENST00000337910.5	37	c.1449G>A	CCDS7261.1																																																																																				0.463	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			4	19	0	0	0	0	4	19				
PRF1	5551	broad.mit.edu	37	10	72358341	72358341	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr10:72358341C>T	ENST00000441259.1	-	3	1296	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	PRF1_ENST00000373209.2_Missense_Mutation_p.R379Q	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	379	EGF-like.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TGGGCACGGCCGGCTGCAGTC	0.701			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													uc009xqg.2		NA	yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		various leukaemia|lymphoma			0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1135-1137)CGG>CAG		perforin 1 precursor							15.0	18.0	17.0					10																	72358341		2197	4292	6489	SO:0001583	missense	5551	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358341C>T	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1136G>A	10.37:g.72358341C>T	ENSP00000398568:p.Arg379Gln					PRF1_uc001jrf.3_Missense_Mutation_p.R379Q	p.R379Q	NM_001083116	NP_001076585	P14222	PERF_HUMAN			3	1297	-			379			EGF-like.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.1136G>A	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807587	0.50421	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.91180	-2.8;-2.8	5.83	3.66	0.41972	.	0.658081	0.15719	N	0.248005	D	0.88388	0.6423	M	0.79123	2.44	0.25369	N	0.988713	B	0.20671	0.047	B	0.06405	0.002	T	0.75459	-0.3310	10	0.15066	T	0.55	-38.7353	11.0166	0.47693	0.0:0.8227:0.0:0.1773	.	379	P14222	PERF_HUMAN	Q	379	ENSP00000362305:R379Q;ENSP00000398568:R379Q	ENSP00000316746:R379Q	R	-	2	0	PRF1	72028347	0.006000	0.16342	1.000000	0.80357	0.919000	0.55068	0.137000	0.15995	1.459000	0.47892	0.655000	0.94253	CGG		0.701	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		4	22	0	0	0	0	4	22				
DOCK1	1793	broad.mit.edu	37	10	129209186	129209186	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr10:129209186G>A	ENST00000280333.6	+	43	4472	c.4363G>A	c.(4363-4365)Gcg>Acg	p.A1455T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1455	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAATGAATTTGCGGTAAAAAA	0.468																																						uc001ljt.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(4363-4365)GCG>ACG		dedicator of cytokinesis 1							47.0	47.0	47.0					10																	129209186		1890	4107	5997	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129209186G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4363G>A	10.37:g.129209186G>A	ENSP00000280333:p.Ala1455Thr					DOCK1_uc010qun.1_Missense_Mutation_p.A1476T|DOCK1_uc009yaq.2_Missense_Mutation_p.A450T	p.A1455T	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	43	4427	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1455			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.4363G>A		.	.	.	.	.	.	.	.	.	.	G	18.83	3.707617	0.68615	.	.	ENSG00000150760	ENST00000280333	T	0.17528	2.27	4.9	3.99	0.46301	.	0.054627	0.64402	D	0.000001	T	0.27384	0.0672	M	0.88570	2.965	0.80722	D	1	B;P;B	0.47841	0.348;0.901;0.241	B;B;B	0.38803	0.282;0.173;0.23	T	0.44651	-0.9314	10	0.59425	D	0.04	.	14.6661	0.68910	0.0:0.0:0.8537:0.1463	.	1455;1521;1455	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	T	1455	ENSP00000280333:A1455T	ENSP00000280333:A1455T	A	+	1	0	DOCK1	129099176	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.146000	0.71777	1.260000	0.44134	0.655000	0.94253	GCG		0.468	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		8	21	0	0	0	0	8	21				
KRTAP5-5	439915	broad.mit.edu	37	11	1651549	1651549	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr11:1651549G>A	ENST00000399676.2	+	1	517	c.479G>A	c.(478-480)tGc>tAc	p.C160Y		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	160	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCAGCTGCTGCAAGCCCTGC	0.652																																						uc001lty.2		NA																	0				lung(1)	1						c.(478-480)TGC>TAC		keratin associated protein 5-5							51.0	66.0	61.0					11																	1651549		2201	4295	6496	SO:0001583	missense	439915					keratin filament		g.chr11:1651549G>A	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.479G>A	11.37:g.1651549G>A	ENSP00000382584:p.Cys160Tyr						p.C160Y	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	517	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	160			8 X 4 AA repeats of C-C-X-P.|4.		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.479G>A	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.775725	0.00640	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01234	5.13	3.87	3.87	0.44632	.	.	.	.	.	T	0.04272	0.0118	M	0.88241	2.94	0.28458	N	0.916025	B	0.21905	0.062	B	0.19148	0.024	T	0.02081	-1.1217	9	0.66056	D	0.02	.	13.3157	0.60405	0.0:0.0:1.0:0.0	.	160	Q701N2	KRA55_HUMAN	Y	160;131	ENSP00000382584:C160Y	ENSP00000382584:C160Y	C	+	2	0	KRTAP5-5	1608125	0.432000	0.25554	0.026000	0.17262	0.003000	0.03518	2.003000	0.40844	1.702000	0.51228	0.484000	0.47621	TGC		0.652	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			7	116	0	0	0	0	7	116				
SBF2	81846	broad.mit.edu	37	11	10064502	10064502	+	Silent	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr11:10064502C>A	ENST00000256190.8	-	3	305	c.168G>T	c.(166-168)ctG>ctT	p.L56L	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	56	UDENN.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCTCTCTGGACAGCTGCCACC	0.378																																						uc001mib.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(166-168)CTG>CTT		SET binding factor 2							87.0	77.0	81.0					11																	10064502		2201	4294	6495	SO:0001819	synonymous_variant	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10064502C>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.168G>T	11.37:g.10064502C>A						SBF2_uc001mif.3_5'UTR|SBF2_uc001mij.2_RNA	p.L56L	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	3	306	-			56			UDENN.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	ENST00000256190.8	37	c.168G>T	CCDS31427.1																																																																																				0.378	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		11	45	1	0	0.000219431	0.000333872	11	45				
NAV2	89797	broad.mit.edu	37	11	20139697	20139697	+	Silent	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr11:20139697C>T	ENST00000396087.3	+	41	7459	c.7360C>T	c.(7360-7362)Ctg>Ttg	p.L2454L	NAV2_ENST00000540292.1_Silent_p.L2385L|NAV2_ENST00000396085.1_Silent_p.L2398L|NAV2_ENST00000349880.4_Silent_p.L2395L|NAV2-AS1_ENST00000526642.1_RNA|NAV2_ENST00000360655.4_Silent_p.L2331L|NAV2_ENST00000311043.8_Silent_p.L1459L|NAV2_ENST00000527559.2_Silent_p.L2383L|NAV2_ENST00000533917.1_Silent_p.L1459L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2454					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCTGATGAGGCTGCAGGAGGC	0.552																																						uc001mpr.3		NA																	0				skin(4)|ovary(1)|pancreas(1)	6						c.(7192-7194)CTG>TTG		neuron navigator 2 isoform 1							99.0	93.0	95.0					11																	20139697		2203	4300	6503	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20139697C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.7360C>T	11.37:g.20139697C>T						NAV2_uc001mpp.2_Silent_p.L2331L|NAV2_uc009yhx.2_Silent_p.L1459L|NAV2_uc009yhz.2_Silent_p.L1040L|NAV2_uc001mpu.2_Silent_p.L833L|NAV2_uc001mpv.2_Silent_p.L157L	p.L2398L	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN			38	7553	+			2454					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.7192C>T	CCDS58126.1																																																																																				0.552	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		15	87	0	0	0	0	15	87				
FIBIN	387758	broad.mit.edu	37	11	27016517	27016517	+	Silent	SNP	G	G	A	rs181248433		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr11:27016517G>A	ENST00000318627.2	+	1	890	c.444G>A	c.(442-444)caG>caA	p.Q148Q		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	148						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						AGCAGGGCCAGGAACAGGACA	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17817	0.0		0.0	False		,,,				2504	0.0					uc001mrd.2		NA																	0					0						c.(442-444)CAG>CAA		fin bud initiation factor homolog precursor		G		2,4402	4.2+/-10.8	0,2,2200	71.0	69.0	70.0		444	4.0	1.0	11		70	0,8598		0,0,4299	no	coding-synonymous	FIBIN	NM_203371.1		0,2,6499	AA,AG,GG		0.0,0.0454,0.0154		148/212	27016517	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	387758					extracellular region|Golgi apparatus		g.chr11:27016517G>A	BC026873	CCDS7861.1	11p14.2	2008-12-03				ENSG00000176971			33747	protein-coding gene	gene with protein product						17196583	Standard	NM_203371		Approved	MGC24932	uc001mrd.3	Q8TAL6		ENST00000318627.2:c.444G>A	11.37:g.27016517G>A							p.Q148Q	NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN			1	890	+			148						Silent	SNP	ENST00000318627.2	37	c.444G>A	CCDS7861.1																																																																																				0.592	FIBIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387945.1	NM_203371		10	44	0	0	0	0	10	44				
CLSTN3	9746	broad.mit.edu	37	12	7289595	7289595	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr12:7289595C>A	ENST00000266546.6	+	7	1549	c.1099C>A	c.(1099-1101)Cag>Aag	p.Q367K	CLSTN3_ENST00000537408.1_Missense_Mutation_p.Q379K	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	367					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTCTGGGCCCCAGGACAGCCT	0.592																																						uc001qsr.2		NA																	0				large_intestine(1)	1						c.(1099-1101)CAG>AAG		calsyntenin 3 precursor							62.0	56.0	58.0					12																	7289595		2203	4299	6502	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7289595C>A	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1099C>A	12.37:g.7289595C>A	ENSP00000266546:p.Gln367Lys					CLSTN3_uc001qss.2_Missense_Mutation_p.Q379K	p.Q367K	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN			7	1377	+			367			Extracellular (Potential).		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.1099C>A	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	C	9.119	1.008621	0.19199	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.02067	4.47;4.47	5.86	4.95	0.65309	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.307464	0.28459	N	0.015262	T	0.01765	0.0056	N	0.08118	0	0.36796	D	0.885088	B;B	0.25772	0.134;0.038	B;B	0.25291	0.059;0.027	T	0.58429	-0.7638	10	0.17369	T	0.5	-7.9449	16.2069	0.82134	0.1341:0.8659:0.0:0.0	.	379;367	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	K	367;379	ENSP00000266546:Q367K;ENSP00000440679:Q379K	ENSP00000266546:Q367K	Q	+	1	0	CLSTN3	7180862	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	5.359000	0.66074	1.444000	0.47605	0.561000	0.74099	CAG		0.592	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		18	57	1	0	3.41e-10	5.74e-10	18	57				
CD163L1	283316	broad.mit.edu	37	12	7522012	7522012	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr12:7522012G>A	ENST00000313599.3	-	15	4037	c.3980C>T	c.(3979-3981)gCc>gTc	p.A1327V	CD163L1_ENST00000416109.2_Missense_Mutation_p.A1337V|CD163L1_ENST00000396630.1_Missense_Mutation_p.A1327V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1327	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			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						CCAGGGTTTGGCGTGACAGTC	0.537																																						uc001qsy.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(3979-3981)GCC>GTC		scavenger receptor cysteine-rich type 1							146.0	130.0	135.0					12																	7522012		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7522012G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3980C>T	12.37:g.7522012G>A	ENSP00000315945:p.Ala1327Val					CD163L1_uc010sge.1_Missense_Mutation_p.A1337V	p.A1327V	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			15	4006	-			1327			SRCR 12.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3980C>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800183	0.31869	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.27890	1.64;1.64;1.64	2.54	1.61	0.23674	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.298246	0.22949	U	0.053695	T	0.40522	0.1120	M	0.72118	2.19	0.09310	N	1	P;D	0.56287	0.955;0.975	P;P	0.62813	0.907;0.875	T	0.23511	-1.0186	10	0.17369	T	0.5	.	3.1149	0.06371	0.1491:0.0:0.5832:0.2677	.	1337;1327	E7EVK4;Q9NR16	.;C163B_HUMAN	V	1327;1337;1327	ENSP00000315945:A1327V;ENSP00000393474:A1337V;ENSP00000379871:A1327V	ENSP00000315945:A1327V	A	-	2	0	CD163L1	7413279	0.064000	0.20934	0.001000	0.08648	0.001000	0.01503	2.447000	0.44917	0.583000	0.29574	-0.518000	0.04402	GCC		0.537	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		34	91	0	0	0	0	34	91				
GRIN2B	2904	broad.mit.edu	37	12	13715993	13715993	+	Silent	SNP	G	G	A	rs199529615		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr12:13715993G>A	ENST00000609686.1	-	13	4388	c.4179C>T	c.(4177-4179)gaC>gaT	p.D1393D		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1393					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.D1393E(1)		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)	AGCACTGGTCGTCCCCAAAAG	0.617																																						uc001rbt.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(4177-4179)GAC>GAT		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						47.0	45.0	45.0					12																	13715993		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13715993G>A		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.4179C>T	12.37:g.13715993G>A							p.D1393D	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	4358	-			1393			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.4179C>T	CCDS8662.1																																																																																				0.617	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			9	43	0	0	0	0	9	43				
C14orf105	55195	broad.mit.edu	37	14	57938207	57938207	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr14:57938207G>A	ENST00000216445.3	-	6	893	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	C14orf105_ENST00000534126.1_Nonsense_Mutation_p.Q252*|C14orf105_ENST00000422976.2_Nonsense_Mutation_p.Q293*	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	253										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						AGCTGTCCCTGGGCCTCTTGT	0.453																																						uc001xcy.2		NA																	0					0						c.(757-759)CAG>TAG		hypothetical protein LOC55195							101.0	90.0	94.0					14																	57938207		2203	4300	6503	SO:0001587	stop_gained	55195							g.chr14:57938207G>A	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.757C>T	14.37:g.57938207G>A	ENSP00000216445:p.Gln253*					C14orf105_uc010trl.1_Nonsense_Mutation_p.Q293*|C14orf105_uc010trm.1_Nonsense_Mutation_p.Q164*|C14orf105_uc010trn.1_Nonsense_Mutation_p.Q164*|C14orf105_uc001xcz.2_Nonsense_Mutation_p.Q252*	p.Q253*	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN			6	900	-			253					Q53G04	Nonsense_Mutation	SNP	ENST00000216445.3	37	c.757C>T	CCDS9730.1	.	.	.	.	.	.	.	.	.	.	G	8.320	0.824184	0.16678	.	.	ENSG00000100557	ENST00000216445;ENST00000422976;ENST00000534126	.	.	.	5.2	1.14	0.20703	.	1.894480	0.02295	N	0.070645	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	7.1721	5.6947	0.17849	0.1742:0.289:0.5367:0.0	.	.	.	.	X	253;293;252	.	ENSP00000216445:Q253X	Q	-	1	0	C14orf105	57007960	0.003000	0.15002	0.001000	0.08648	0.004000	0.04260	1.353000	0.34045	0.007000	0.14760	-0.142000	0.14014	CAG		0.453	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168		4	48	0	0	0	0	4	48				
FLVCR2	55640	broad.mit.edu	37	14	76088433	76088433	+	Silent	SNP	G	G	A	rs143118396		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr14:76088433G>A	ENST00000238667.4	+	2	1037	c.681G>A	c.(679-681)gcG>gcA	p.A227A	FLVCR2_ENST00000539311.1_Silent_p.A22A|FLVCR2_ENST00000553587.1_5'UTR|FLVCR2_ENST00000556856.1_5'Flank|FLVCR2_ENST00000556241.1_3'UTR	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	227					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTGGAATTGCGATTGGGTTCT	0.433																																						uc001xrs.2		NA																	0					0						c.(679-681)GCG>GCA		feline leukemia virus subgroup C cellular		G	,	1,4405	2.1+/-5.4	0,1,2202	321.0	294.0	303.0		66,681	-11.7	0.1	14	dbSNP_134	303	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FLVCR2	NM_001195283.1,NM_017791.2	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	22/322,227/527	76088433	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76088433G>A	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.681G>A	14.37:g.76088433G>A						FLVCR2_uc010tvd.1_Silent_p.A22A	p.A227A	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	2	1057	+			227			Helical; (Potential).		B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	37	c.681G>A	CCDS9844.1																																																																																				0.433	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		33	208	0	0	0	0	33	208				
GABRB3	2562	broad.mit.edu	37	15	26866602	26866602	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr15:26866602G>A	ENST00000311550.5	-	4	431	c.320C>T	c.(319-321)aCg>aTg	p.T107M	GABRB3_ENST00000545868.1_Missense_Mutation_p.T22M|GABRB3_ENST00000299267.4_Missense_Mutation_p.T107M|GABRB3_ENST00000541819.2_Missense_Mutation_p.T163M|GABRB3_ENST00000400188.3_Missense_Mutation_p.T36M	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	107					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	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)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATTGTCAAGCGTGAGGTTGAG	0.428																																						uc001zaz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(319-321)ACG>ATG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						105.0	102.0	103.0					15																	26866602		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26866602G>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.320C>T	15.37:g.26866602G>A	ENSP00000308725:p.Thr107Met					GABRB3_uc010uae.1_Missense_Mutation_p.T22M|GABRB3_uc001zba.2_Missense_Mutation_p.T107M|GABRB3_uc001zbb.2_Missense_Mutation_p.T163M|GABRB3_uc001zbc.2_RNA	p.T107M	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	4	462	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	107			Extracellular (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.320C>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898193	0.91962	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.81	5.81	0.92471	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.90848	0.7125	M	0.84156	2.68	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.996;0.998	D	0.91331	0.5090	10	0.72032	D	0.01	.	19.0679	0.93119	0.0:0.0:1.0:0.0	.	163;107;107	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	M	107;163;107;36;22;22	ENSP00000308725:T107M;ENSP00000442408:T163M;ENSP00000299267:T107M;ENSP00000383049:T36M;ENSP00000439169:T22M;ENSP00000452272:T22M	ENSP00000299267:T107M	T	-	2	0	GABRB3	24417695	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.669000	0.98622	2.752000	0.94435	0.467000	0.42956	ACG		0.428	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			18	76	0	0	0	0	18	76				
RYR3	6263	broad.mit.edu	37	15	34105782	34105782	+	Splice_Site	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr15:34105782C>A	ENST00000389232.4	+	74	10572		c.e74+2		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTGCCCAGGCAAGTATTTTG	0.502																																						uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.e74+2		ryanodine receptor 3							93.0	90.0	91.0					15																	34105782		1915	4120	6035	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34105782C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10502+2C>A	15.37:g.34105782C>A						RYR3_uc010bar.2_Splice_Site_p.R3496_splice	p.R3501_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	74	10572	+		all_lung(180;7.18e-09)						O15175|Q15412	Splice_Site	SNP	ENST00000389232.4	37	c.10502_splice	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871527	0.51695	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	.	.	.	5.07	1.58	0.23477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8917	0.09122	0.0:0.2279:0.1838:0.5882	.	.	.	.	.	-1	.	.	.	+	.	.	RYR3	31893074	1.000000	0.71417	0.830000	0.32933	0.838000	0.47535	4.079000	0.57613	0.128000	0.18479	-0.302000	0.09304	.		0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Intron	14	62	1	0	4.38e-07	7.08e-07	14	62				
NUSAP1	51203	broad.mit.edu	37	15	41643315	41643315	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr15:41643315G>A	ENST00000559596.1	+	4	523	c.436G>A	c.(436-438)Gct>Act	p.A146T	NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000560747.1_Missense_Mutation_p.A145T|NUSAP1_ENST00000260359.6_Missense_Mutation_p.A131T|NUSAP1_ENST00000450592.2_Missense_Mutation_p.A123T|NUSAP1_ENST00000560177.1_Missense_Mutation_p.A145T|NUSAP1_ENST00000450318.1_Missense_Mutation_p.A146T|NUSAP1_ENST00000414849.2_Missense_Mutation_p.A146T			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	146					establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		AGCTGAGAATGCTGTTTCCTC	0.418																																						uc001zns.3		NA																	0					0						c.(436-438)GCT>ACT		nucleolar and spindle associated protein 1							75.0	69.0	71.0					15																	41643315		1910	4135	6045	SO:0001583	missense	51203				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding	g.chr15:41643315G>A	AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.436G>A	15.37:g.41643315G>A	ENSP00000453403:p.Ala146Thr					NUSAP1_uc001znq.3_5'UTR|NUSAP1_uc001znr.3_Missense_Mutation_p.A146T|NUSAP1_uc010bce.2_Missense_Mutation_p.A146T|NUSAP1_uc001znt.3_Missense_Mutation_p.A131T|NUSAP1_uc001znv.3_Missense_Mutation_p.A145T|NUSAP1_uc001znu.3_Missense_Mutation_p.A145T|NUSAP1_uc010ucw.1_Missense_Mutation_p.A123T|NUSAP1_uc001znw.3_5'UTR	p.A146T	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)	4	666	+		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	146					B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Missense_Mutation	SNP	ENST00000559596.1	37	c.436G>A	CCDS45234.1	.	.	.	.	.	.	.	.	.	.	G	9.472	1.095804	0.20552	.	.	ENSG00000137804	ENST00000260359;ENST00000414849;ENST00000450318;ENST00000450592	T;T;T	0.31510	1.49;1.49;1.49	4.87	-1.77	0.07982	.	1.069370	0.07191	N	0.855740	T	0.20170	0.0485	L	0.47716	1.5	0.09310	N	1	B;B;B;P;B;B;B	0.36909	0.141;0.173;0.313;0.573;0.372;0.313;0.313	B;B;B;B;B;B;B	0.32724	0.067;0.098;0.094;0.151;0.094;0.094;0.094	T	0.23511	-1.0186	10	0.17832	T	0.49	.	4.8371	0.13469	0.4635:0.1585:0.3779:0.0	.	123;146;145;145;146;146;146	E7ERR5;E9PB35;Q9BXS6-3;Q9BXS6-5;A8K4B4;Q9BXS6;Q9BXS6-2	.;.;.;.;.;NUSAP_HUMAN;.	T	146;146;146;123	ENSP00000400746:A146T;ENSP00000401351:A146T;ENSP00000401014:A123T	ENSP00000260359:A146T	A	+	1	0	NUSAP1	39430607	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.185000	0.16958	-0.100000	0.12241	-0.233000	0.12211	GCT		0.418	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419427.1	NM_016359		8	31	0	0	0	0	8	31				
TEKT5	146279	broad.mit.edu	37	16	10788316	10788316	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr16:10788316G>A	ENST00000283025.2	-	1	486	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	139						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CCCAGGTTCCGGCAGGTGCCC	0.617																																						uc002czz.1		NA																	0				ovary(2)	2						c.(415-417)CGG>TGG		tektin 5							101.0	107.0	105.0					16																	10788316		2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10788316G>A		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.415C>T	16.37:g.10788316G>A	ENSP00000283025:p.Arg139Trp						p.R139W	NM_144674	NP_653275	Q96M29	TEKT5_HUMAN			1	487	-			139			Potential.		A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.415C>T	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	.	15.04	2.715812	0.48622	.	.	ENSG00000153060	ENST00000283025	T	0.02812	4.15	5.4	4.44	0.53790	.	0.107942	0.40908	N	0.000981	T	0.05502	0.0145	M	0.78049	2.395	0.47949	D	0.99955	B	0.23490	0.086	B	0.26614	0.071	T	0.09530	-1.0670	10	0.66056	D	0.02	-34.0767	7.0766	0.25207	0.083:0.0:0.6555:0.2615	.	139	Q96M29	TEKT5_HUMAN	W	139	ENSP00000283025:R139W	ENSP00000283025:R139W	R	-	1	2	TEKT5	10695817	1.000000	0.71417	0.961000	0.40146	0.848000	0.48234	2.880000	0.48530	1.404000	0.46819	0.650000	0.86243	CGG		0.617	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		5	175	0	0	0	0	5	175				
TANGO6	79613	broad.mit.edu	37	16	68914511	68914511	+	Missense_Mutation	SNP	G	G	A	rs376794336		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr16:68914511G>A	ENST00000261778.1	+	7	1367	c.1355G>A	c.(1354-1356)aGa>aAa	p.R452K		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	452						integral component of membrane (GO:0016021)											GAACTTAGTAGATGCATTGAG	0.299																																						uc002ewi.3		NA																	0					0						c.(1354-1356)AGA>AAA		transmembrane and coiled-coil domains 7		G	LYS/ARG	0,3670		0,0,1835	205.0	190.0	195.0		1355	4.5	1.0	16		195	1,8179		0,1,4089	no	missense	TMCO7	NM_024562.1	26	0,1,5924	AA,AG,GG		0.0122,0.0,0.0084	benign	452/1095	68914511	1,11849	1835	4090	5925	SO:0001583	missense	79613					integral to membrane	binding	g.chr16:68914511G>A		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.1355G>A	16.37:g.68914511G>A	ENSP00000261778:p.Arg452Lys						p.R452K	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	7	1367	+		Ovarian(137;0.0568)	452					Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.1355G>A	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772253	0.49680	0.0	1.22E-4	ENSG00000103047	ENST00000261778	.	.	.	5.43	4.47	0.54385	.	.	.	.	.	T	0.40372	0.1114	L	0.59436	1.845	0.24235	N	0.995382	B	0.12630	0.006	B	0.14023	0.01	T	0.16778	-1.0391	8	0.21014	T	0.42	-6.9272	6.9302	0.24437	0.0918:0.1776:0.7306:0.0	.	452	Q9C0B7	TMCO7_HUMAN	K	452	.	ENSP00000261778:R452K	R	+	2	0	TMCO7	67472012	0.930000	0.31532	0.990000	0.47175	0.954000	0.61252	1.681000	0.37618	2.539000	0.85634	0.655000	0.94253	AGA		0.299	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		19	76	0	0	0	0	19	76				
TP53	7157	broad.mit.edu	37	17	7578369	7578369	+	Splice_Site	SNP	A	A	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:7578369A>C	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	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						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.?(17)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	CCAGCTGCTCACCATCGCTAT	0.632		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		31	Unknown(17)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	p.?(12)|p.0?(7)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)	liver(8)|upper_aerodigestive_tract(7)|bone(4)|ovary(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|breast(2)|stomach(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.e5+1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	46.0	46.0					17																	7578369		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578369A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.559+1T>G	17.37:g.7578369A>C		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_Splice_Site_p.G187_splice|TP53_uc002gih.2_Splice_Site_p.G187_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Intron|TP53_uc010cng.1_Intron|TP53_uc002gii.1_Intron|TP53_uc010cnh.1_Splice_Site_p.G187_splice|TP53_uc010cni.1_Splice_Site_p.G187_splice|TP53_uc002gij.2_Splice_Site_p.G187_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.G94_splice|TP53_uc002gio.2_Splice_Site_p.G55_splice|TP53_uc010vug.1_Splice_Site_p.G148_splice	p.G187_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	753	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37	c.559_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.410047	0.25465	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7283	0.57183	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519094	0.997000	0.39634	0.970000	0.41538	0.209000	0.24338	3.178000	0.50879	1.967000	0.57214	0.533000	0.62120	.		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	22	28	0	0	0	0	22	28				
PSMD11	5717	broad.mit.edu	37	17	30771555	30771555	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:30771555C>G	ENST00000261712.3	+	1	277	c.14C>G	c.(13-15)gCg>gGg	p.A5G	PSMD11_ENST00000457654.2_Missense_Mutation_p.A5G	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	5					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)|proteasome assembly (GO:0043248)|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)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			gcggcggcggcggtggtggAG	0.701																																					Ovarian(130;1038 1716 9294 11987 19279)	uc010cta.1		NA																	0				ovary(1)	1						c.(13-15)GCG>GGG		proteasome 26S non-ATPase subunit 11							18.0	18.0	18.0					17																	30771555		2186	4270	6456	SO:0001583	missense	5717				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 complex	protein binding	g.chr17:30771555C>G	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.14C>G	17.37:g.30771555C>G	ENSP00000261712:p.Ala5Gly					PSMD11_uc010wbz.1_Missense_Mutation_p.A5G|PSMD11_uc002hhm.2_Missense_Mutation_p.A5G	p.A5G	NM_002815	NP_002806	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		1	54	+		Breast(31;0.159)|Ovarian(249;0.182)	5					A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	c.14C>G	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803330	0.50315	.	.	ENSG00000108671	ENST00000261712	.	.	.	5.25	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.34019	0.0883	N	0.08118	0	0.53005	D	0.999969	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.003	T	0.11767	-1.0574	9	0.17832	T	0.49	-19.5166	11.4424	0.50105	0.0:0.9133:0.0:0.0867	.	5;5	B4DTS5;O00231	.;PSD11_HUMAN	G	5	.	ENSP00000261712:A5G	A	+	2	0	PSMD11	27795668	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.945000	0.75947	1.455000	0.47813	0.558000	0.71614	GCG		0.701	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		10	11	0	0	0	0	10	11				
EME1	146956	broad.mit.edu	37	17	48452586	48452586	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:48452586C>T	ENST00000338165.4	+	2	99	c.17C>T	c.(16-18)tCa>tTa	p.S6L	EME1_ENST00000393271.2_Missense_Mutation_p.S6L|MRPL27_ENST00000442592.3_5'Flank|EME1_ENST00000511648.2_Missense_Mutation_p.S6L|MRPL27_ENST00000507088.1_5'Flank|MRPL27_ENST00000225969.4_5'Flank|MRPL27_ENST00000503633.1_5'Flank	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	6					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CTAAAGAAGTCATCACCCTCA	0.428								Direct reversal of damage;Homologous recombination																														uc002iqs.1		NA																	0					0						c.(16-18)TCA>TTA	Direct_reversal_of_damage|Homologous_recombination	essential meiotic endonuclease 1 homolog 1							69.0	66.0	67.0					17																	48452586		2203	4300	6503	SO:0001583	missense	146956				DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding	g.chr17:48452586C>T	BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.17C>T	17.37:g.48452586C>T	ENSP00000339897:p.Ser6Leu					MRPL27_uc002iqq.2_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.1_Missense_Mutation_p.S6L	p.S6L	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		2	90	+	Breast(11;5.62e-19)		6					Q96N62	Missense_Mutation	SNP	ENST00000338165.4	37	c.17C>T	CCDS11565.1	.	.	.	.	.	.	.	.	.	.	C	8.822	0.937746	0.18206	.	.	ENSG00000154920	ENST00000338165;ENST00000393271;ENST00000511519;ENST00000511648	T;T;T;T	0.16897	2.99;2.99;2.31;2.99	5.84	3.51	0.40186	.	0.864473	0.09782	N	0.756582	T	0.08714	0.0216	N	0.12746	0.255	0.09310	N	0.999999	B;B	0.14438	0.01;0.006	B;B	0.13407	0.009;0.004	T	0.33828	-0.9853	10	0.07813	T	0.8	-0.1107	8.374	0.32432	0.0:0.7905:0.0:0.2095	.	6;6	Q96AY2-2;Q96AY2	.;EME1_HUMAN	L	6	ENSP00000339897:S6L;ENSP00000376952:S6L;ENSP00000423029:S6L;ENSP00000421700:S6L	ENSP00000339897:S6L	S	+	2	0	EME1	45807585	0.000000	0.05858	0.251000	0.24312	0.142000	0.21351	0.483000	0.22292	1.459000	0.47892	0.655000	0.94253	TCA		0.428	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463		13	58	0	0	0	0	13	58				
PPM1E	22843	broad.mit.edu	37	17	57050198	57050198	+	Silent	SNP	A	A	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:57050198A>G	ENST00000308249.2	+	6	1251	c.1122A>G	c.(1120-1122)gaA>gaG	p.E374E		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	97					protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TTTAGGATGAAAAGCAGAGAA	0.398																																						uc002iwx.2		NA																	0				breast(3)|lung(1)|skin(1)	5						c.(1120-1122)GAA>GAG		protein phosphatase 1E							197.0	186.0	190.0					17																	57050198		2203	4300	6503	SO:0001819	synonymous_variant	22843				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:57050198A>G	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.1122A>G	17.37:g.57050198A>G						PPM1E_uc010ddd.2_Silent_p.E137E	p.E374E	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		6	1249	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		383			PP2C-like.		Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	37	c.1122A>G	CCDS11613.1																																																																																				0.398	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		31	49	0	0	0	0	31	49				
TRIM37	4591	broad.mit.edu	37	17	57158492	57158492	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:57158492C>T	ENST00000262294.7	-	6	717	c.458G>A	c.(457-459)cGt>cAt	p.R153H	TRIM37_ENST00000376149.3_Missense_Mutation_p.R31H|TRIM37_ENST00000393066.3_Missense_Mutation_p.R153H|TRIM37_ENST00000393065.2_Missense_Mutation_p.R119H	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	153					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTCCATGAGACGCCGACGAAG	0.313									Mulibrey Nanism																													uc002iwy.3		NA																	0				lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7						c.(457-459)CGT>CAT		tripartite motif-containing 37 protein							107.0	104.0	105.0					17																	57158492		2203	4300	6503	SO:0001583	missense	4591	Mulibrey_Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57158492C>T	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.458G>A	17.37:g.57158492C>T	ENSP00000262294:p.Arg153His					TRIM37_uc002iwz.3_Missense_Mutation_p.R153H|TRIM37_uc002ixa.3_Missense_Mutation_p.R31H|TRIM37_uc010woc.1_Missense_Mutation_p.R119H	p.R153H	NM_001005207	NP_001005207	O94972	TRI37_HUMAN			6	902	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		153			Potential.		Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.458G>A	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470303	0.63625	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.73047	1.42;1.42;-0.71;1.0	5.62	5.62	0.85841	B-box, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.85843	0.5791	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.87578	0.994;0.998;0.842	D	0.87407	0.2373	10	0.87932	D	0	-14.2348	18.2379	0.89956	0.0:1.0:0.0:0.0	.	119;31;153	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	H	153;153;31;119	ENSP00000376785:R153H;ENSP00000262294:R153H;ENSP00000365319:R31H;ENSP00000376784:R119H	ENSP00000262294:R153H	R	-	2	0	TRIM37	54513274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.647000	0.83462	2.661000	0.90470	0.650000	0.86243	CGT		0.313	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		40	55	0	0	0	0	40	55				
ABCA10	10349	broad.mit.edu	37	17	67160232	67160232	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:67160232G>C	ENST00000269081.4	-	28	4255	c.3346C>G	c.(3346-3348)Ctt>Gtt	p.L1116V	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1116					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GTTGTTAAAAGAATGGTTTTA	0.313																																						uc010dfa.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3346-3348)CTT>GTT		ATP-binding cassette, sub-family A, member 10							63.0	67.0	65.0					17																	67160232		2202	4294	6496	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67160232G>C	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3346C>G	17.37:g.67160232G>C	ENSP00000269081:p.Leu1116Val					ABCA10_uc010wqs.1_Missense_Mutation_p.L108V|ABCA10_uc010wqt.1_RNA	p.L1116V	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			28	4225	-	Breast(10;6.95e-12)		1116			Helical; (Potential).		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.3346C>G	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	4.476	0.088160	0.08583	.	.	ENSG00000154263	ENST00000269081	D	0.88431	-2.38	2.92	-2.04	0.07343	.	1.515700	0.05317	N	0.525788	T	0.81418	0.4818	L	0.45228	1.405	0.09310	N	1	B;B	0.19583	0.024;0.037	B;B	0.24701	0.038;0.055	T	0.60337	-0.7283	10	0.25751	T	0.34	.	0.4267	0.00464	0.2611:0.1978:0.3395:0.2016	.	108;1116	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	V	1116	ENSP00000269081:L1116V	ENSP00000269081:L1116V	L	-	1	0	ABCA10	64671827	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.462000	0.06704	-0.772000	0.04602	-0.253000	0.11424	CTT		0.313	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		11	39	0	0	0	0	11	39				
SDK2	54549	broad.mit.edu	37	17	71375666	71375666	+	Silent	SNP	G	G	A	rs141328074		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:71375666G>A	ENST00000392650.3	-	35	4785	c.4785C>T	c.(4783-4785)taC>taT	p.Y1595Y	SDK2_ENST00000388726.3_Silent_p.Y1576Y	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1595	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCCGTATCTCGTACCGCCTGT	0.652																																						uc010dfm.2		NA																	0				ovary(2)	2						c.(4783-4785)TAC>TAT		sidekick 2		G		1,4405	2.1+/-5.4	0,1,2202	67.0	49.0	55.0		4785	-6.0	0.3	17	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SDK2	NM_001144952.1		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		1595/2173	71375666	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71375666G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4785C>T	17.37:g.71375666G>A						SDK2_uc002jjt.3_Silent_p.Y735Y|SDK2_uc010dfn.2_Silent_p.Y1274Y	p.Y1595Y	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			35	4785	-			1595			Extracellular (Potential).|Fibronectin type-III 10.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.4785C>T	CCDS45769.1																																																																																				0.652	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		5	44	0	0	0	0	5	44				
ALKBH7	84266	broad.mit.edu	37	19	6374915	6374915	+	Silent	SNP	C	C	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:6374915C>G	ENST00000245812.3	+	4	985	c.597C>G	c.(595-597)tcC>tcG	p.S199S	ALKBH7_ENST00000599849.1_Silent_p.S138S|ALKBH7_ENST00000596657.1_Silent_p.S57S	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	199					cellular response to DNA damage stimulus (GO:0006974)|fatty acid metabolic process (GO:0006631)|regulation of lipid storage (GO:0010883)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)	mitochondrial matrix (GO:0005759)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGCGCATCTCCGTGATCTGCC	0.637																																						uc002meo.1		NA																	0					0						c.(595-597)TCC>TCG		spermatogenesis associated 11 precursor																																				SO:0001819	synonymous_variant	84266					extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr19:6374915C>G	AY427650	CCDS12163.1	19p13.3	2008-02-05	2006-02-09	2006-02-09		ENSG00000125652		"""Alkylation repair homologs"""	21306	protein-coding gene	gene with protein product		613305	"""spermatogenesis associated 11"""	SPATA11		12477932	Standard	NM_032306		Approved	MGC10974	uc002meo.2	Q9BT30		ENST00000245812.3:c.597C>G	19.37:g.6374915C>G							p.S199S	NM_032306	NP_115682	Q9BT30	ALKB7_HUMAN			4	985	+			199					B2R4U9|Q53FF3	Silent	SNP	ENST00000245812.3	37	c.597C>G	CCDS12163.1																																																																																				0.637	ALKBH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453036.1	NM_032306		15	41	0	0	0	0	15	41				
ZNF536	9745	broad.mit.edu	37	19	31039973	31039973	+	Silent	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:31039973C>A	ENST00000355537.3	+	4	3594	c.3447C>A	c.(3445-3447)atC>atA	p.I1149I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1149					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)			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)					CCATCCTGATCCCCGAAACCA	0.552																																						uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(3445-3447)ATC>ATA		zinc finger protein 536							70.0	67.0	68.0					19																	31039973		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039973C>A		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.3447C>A	19.37:g.31039973C>A						ZNF536_uc010edd.1_Silent_p.I1149I	p.I1149I	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3585	+	Esophageal squamous(110;0.0834)		1149					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3447C>A	CCDS32984.1																																																																																				0.552	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		12	59	1	0	2.81e-09	4.67e-09	12	59				
KCTD15	79047	broad.mit.edu	37	19	34297787	34297787	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:34297787G>A	ENST00000430256.3	+	4	670	c.262G>A	c.(262-264)Ggc>Agc	p.G88S	KCTD15_ENST00000588881.1_Missense_Mutation_p.G88S|KCTD15_ENST00000589786.1_Missense_Mutation_p.G88S|KCTD15_ENST00000284006.6_Missense_Mutation_p.G88S			Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15	88	BTB.				multicellular organismal development (GO:0007275)|protein homooligomerization (GO:0051260)					endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					CCTCTTCAATGGCACTGAACC	0.567																																					Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178)	uc002nuy.3		NA																	0				pancreas(1)	1						c.(262-264)GGC>AGC		potassium channel tetramerisation domain							143.0	125.0	131.0					19																	34297787		2203	4300	6503	SO:0001583	missense	79047					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:34297787G>A	AK025590	CCDS12434.1, CCDS46039.1	19q13.12	2013-06-20	2013-06-20			ENSG00000153885			23297	protein-coding gene	gene with protein product		615240	"""potassium channel tetramerisation domain containing 15"""			12477932	Standard	NM_024076		Approved	MGC25497	uc002nuw.4	Q96SI1		ENST00000430256.3:c.262G>A	19.37:g.34297787G>A	ENSP00000394390:p.Gly88Ser					KCTD15_uc002nuv.2_Missense_Mutation_p.G88S|KCTD15_uc002nuw.3_Missense_Mutation_p.G88S|KCTD15_uc010xrt.1_Missense_Mutation_p.G88S|KCTD15_uc002nux.3_Missense_Mutation_p.G88S	p.G88S	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN			5	530	+	Esophageal squamous(110;0.162)		88			BTB.		A8K600|Q9BVI6	Missense_Mutation	SNP	ENST00000430256.3	37	c.262G>A	CCDS46039.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631268	0.87660	.	.	ENSG00000153885	ENST00000430256;ENST00000284006;ENST00000422820	T;T	0.43688	0.94;0.94	5.29	5.29	0.74685	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.54127	0.1839	L	0.58302	1.8	0.80722	D	1	D;B	0.53312	0.959;0.427	P;B	0.52823	0.71;0.331	T	0.55477	-0.8135	10	0.52906	T	0.07	.	17.9233	0.88975	0.0:0.0:1.0:0.0	.	88;88	Q96SI1;Q96SI1-2	KCD15_HUMAN;.	S	88;88;91	ENSP00000394390:G88S;ENSP00000284006:G88S	ENSP00000284006:G88S	G	+	1	0	KCTD15	38989627	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.382000	0.97209	2.473000	0.83533	0.655000	0.94253	GGC		0.567	KCTD15-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451462.2	NM_024076		17	120	0	0	0	0	17	120				
FAM98C	147965	broad.mit.edu	37	19	38897630	38897630	+	Silent	SNP	C	C	T	rs372902479		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:38897630C>T	ENST00000252530.5	+	7	850	c.831C>T	c.(829-831)caC>caT	p.H277H	FAM98C_ENST00000588262.1_Missense_Mutation_p.R144C|FAM98C_ENST00000343358.7_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	277										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCATTGCACACGTTCTGGCTG	0.612																																						uc002oin.1		NA																	0				skin(1)	1						c.(829-831)CAC>CAT		hypothetical protein LOC147965		C		0,4090		0,0,2045	122.0	125.0	124.0		831	-8.7	0.7	19		124	1,8377		0,1,4188	no	coding-synonymous	FAM98C	NM_174905.3		0,1,6233	TT,TC,CC		0.0119,0.0,0.0080		277/350	38897630	1,12467	2045	4189	6234	SO:0001819	synonymous_variant	147965							g.chr19:38897630C>T		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.831C>T	19.37:g.38897630C>T						FAM98C_uc002oio.1_Intron|FAM98C_uc010xtz.1_Missense_Mutation_p.R144C	p.H277H	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		7	850	+	all_cancers(60;3.95e-06)		277					A6NMW3|Q66K45	Silent	SNP	ENST00000252530.5	37	c.831C>T	CCDS42562.1																																																																																				0.612	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		32	102	0	0	0	0	32	102				
NLRP7	199713	broad.mit.edu	37	19	55435180	55435180	+	Silent	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:55435180C>T	ENST00000590030.1	-	9	2911	c.2871G>A	c.(2869-2871)aaG>aaA	p.K957K	NLRP7_ENST00000340844.2_Silent_p.K957K|NLRP7_ENST00000448121.2_Silent_p.K986K|NLRP7_ENST00000446217.1_Silent_p.K1042K|NLRP7_ENST00000328092.5_Silent_p.K986K|NLRP7_ENST00000592784.1_Silent_p.K1014K|NLRP7_ENST00000588756.1_Silent_p.K1014K			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	957							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCTTGGGATTCTTTTCTTTCA	0.448																																						uc002qih.3		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(2869-2871)AAG>AAA		NACHT, leucine rich repeat and PYD containing 7							137.0	133.0	134.0					19																	55435180		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55435180C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2871G>A	19.37:g.55435180C>T						NLRP7_uc002qig.3_Silent_p.K986K|NLRP7_uc002qii.3_Silent_p.K1014K|NLRP7_uc010esk.2_3'UTR|NLRP7_uc010esl.2_Silent_p.K1042K	p.K957K	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	10	2947	-			957			LRR 9.		E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.2871G>A	CCDS33109.1																																																																																				0.448	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		35	67	0	0	0	0	35	67				
NLRP5	126206	broad.mit.edu	37	19	56520174	56520174	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:56520174G>C	ENST00000390649.3	+	3	463	c.463G>C	c.(463-465)Gaa>Caa	p.E155Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	155					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGAAGATCCTGAAGCAACGAT	0.478																																						uc002qmj.2		NA																	0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(463-465)GAA>CAA		NACHT, LRR and PYD containing protein 5							67.0	64.0	65.0					19																	56520174		1922	4139	6061	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56520174G>C	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.463G>C	19.37:g.56520174G>C	ENSP00000375063:p.Glu155Gln					NLRP5_uc002qmi.2_Missense_Mutation_p.E155Q	p.E155Q	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	3	463	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	155					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.463G>C	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	2.782	-0.253223	0.05829	.	.	ENSG00000171487	ENST00000390649	T	0.72394	-0.65	2.56	-0.969	0.10310	.	.	.	.	.	T	0.41789	0.1174	N	0.08118	0	0.09310	N	1	P	0.35821	0.523	B	0.29716	0.106	T	0.22906	-1.0203	9	0.30854	T	0.27	.	5.869	0.18793	0.3926:0.0:0.6074:0.0	.	155	P59047	NALP5_HUMAN	Q	155	ENSP00000375063:E155Q	ENSP00000375063:E155Q	E	+	1	0	NLRP5	61211986	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.084000	0.11268	-0.162000	0.10964	0.508000	0.49915	GAA		0.478	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		3	22	0	0	0	0	3	22				
MAPRE3	22924	broad.mit.edu	37	2	27248513	27248513	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:27248513G>A	ENST00000233121.2	+	5	730	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	MAPRE3_ENST00000405074.3_Missense_Mutation_p.V163M|MAPRE3_ENST00000402218.1_Missense_Mutation_p.V163M			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	178					mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGAGCAATGTGGCCCCCCC	0.567																																						uc002rhw.2		NA																	0				ovary(1)	1						c.(532-534)GTG>ATG		microtubule-associated protein, RP/EB family,							63.0	60.0	61.0					2																	27248513		2203	4300	6503	SO:0001583	missense	22924				cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity	g.chr2:27248513G>A	Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.532G>A	2.37:g.27248513G>A	ENSP00000233121:p.Val178Met					MAPRE3_uc002rhx.2_Missense_Mutation_p.V163M	p.V178M	NM_012326	NP_036458	Q9UPY8	MARE3_HUMAN			5	685	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		178					B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Missense_Mutation	SNP	ENST00000233121.2	37	c.532G>A	CCDS1731.1	.	.	.	.	.	.	.	.	.	.	g	12.42	1.933405	0.34096	.	.	ENSG00000084764	ENST00000233121;ENST00000405074;ENST00000458529;ENST00000402218	T;T;T;T	0.46819	0.87;0.86;0.87;0.86	4.43	4.43	0.53597	.	0.332758	0.29066	N	0.013241	T	0.30008	0.0751	N	0.19112	0.55	0.29144	N	0.87881	B;B	0.22983	0.003;0.078	B;B	0.18263	0.002;0.021	T	0.14448	-1.0472	10	0.46703	T	0.11	-3.2828	8.212	0.31488	0.1064:0.0:0.8936:0.0	.	163;178	Q9UPY8-2;Q9UPY8	.;MARE3_HUMAN	M	178;163;178;163	ENSP00000233121:V178M;ENSP00000383915:V163M;ENSP00000391705:V178M;ENSP00000385715:V163M	ENSP00000233121:V178M	V	+	1	0	MAPRE3	27102017	1.000000	0.71417	0.983000	0.44433	0.980000	0.70556	4.182000	0.58310	2.310000	0.77875	0.556000	0.70494	GTG		0.567	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214183.1	NM_012326		12	47	0	0	0	0	12	47				
LGALSL	29094	broad.mit.edu	37	2	64683576	64683576	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:64683576T>C	ENST00000238875.5	+	4	806	c.352T>C	c.(352-354)Ttc>Ctc	p.F118L	LGALSL_ENST00000409537.2_Intron|AC008074.3_ENST00000441630.1_RNA	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	118	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.					intracellular (GO:0005622)	carbohydrate binding (GO:0030246)										TTACTTTCCATTCATTCCAGA	0.493																																						uc002scy.3		NA																	0					0						c.(352-354)TTC>CTC		galectin-related protein							142.0	145.0	144.0					2																	64683576		2203	4300	6503	SO:0001583	missense	29094					intracellular	sugar binding	g.chr2:64683576T>C	AF161508	CCDS1877.1	2p14	2011-08-15			ENSG00000119862	ENSG00000119862			25012	protein-coding gene	gene with protein product	"""galectin-related protein"""					11042152, 16682780	Standard	NM_014181		Approved	HSPC159, GRP	uc002scy.4	Q3ZCW2	OTTHUMG00000129541	ENST00000238875.5:c.352T>C	2.37:g.64683576T>C	ENSP00000238875:p.Phe118Leu						p.F118L	NM_014181	NP_054900	Q3ZCW2	LEGL_HUMAN			4	705	+			118			Galectin.		B2RBG8|D6W5E8|Q6P5T6|Q9P005	Missense_Mutation	SNP	ENST00000238875.5	37	c.352T>C	CCDS1877.1	.	.	.	.	.	.	.	.	.	.	T	33	5.249899	0.95305	.	.	ENSG00000119862	ENST00000238875	T	0.15487	2.42	5.96	5.96	0.96718	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.49304	0.1549	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56786	-0.7921	10	0.87932	D	0	-19.6538	16.4484	0.83959	0.0:0.0:0.0:1.0	.	118	Q3ZCW2	LEGL_HUMAN	L	118	ENSP00000238875:F118L	ENSP00000238875:F118L	F	+	1	0	AC008074.1	64537080	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.499000	0.81566	2.285000	0.76669	0.533000	0.62120	TTC		0.493	LGALSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251731.2	NM_014181		31	168	0	0	0	0	31	168				
HTRA2	27429	broad.mit.edu	37	2	74757782	74757782	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:74757782G>T	ENST00000258080.3	+	2	1175	c.545G>T	c.(544-546)gGc>gTc	p.G182V	AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Missense_Mutation_p.G182V	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	182	Serine protease.				adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ATCTCGAACGGCTCAGGATTC	0.622																																						uc002smi.1		NA																	0				ovary(1)	1						c.(544-546)GGC>GTC		HtrA serine peptidase 2 isoform 1 preproprotein							47.0	51.0	50.0					2																	74757782		2203	4300	6503	SO:0001583	missense	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757782G>T		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.545G>T	2.37:g.74757782G>T	ENSP00000258080:p.Gly182Val					AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.G182V|HTRA2_uc002smk.1_Missense_Mutation_p.G182V|HTRA2_uc002sml.1_Missense_Mutation_p.G182V|HTRA2_uc002smm.1_5'UTR|HTRA2_uc002smn.1_5'UTR|HTRA2_uc010ffl.2_5'UTR	p.G182V	NM_013247	NP_037379	O43464	HTRA2_HUMAN			2	1147	+			182			Serine protease.		Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37	c.545G>T	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710228	0.89018	.	.	ENSG00000115317	ENST00000258080;ENST00000352222;ENST00000437202	D;D;D	0.93604	-3.25;-3.25;-3.25	5.28	5.28	0.74379	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.050525	0.85682	D	0.000000	D	0.98365	0.9457	H	0.99379	4.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.99293	1.0899	10	0.87932	D	0	-12.2696	16.4423	0.83905	0.0:0.0:1.0:0.0	.	182;182;182;182	A8K7G2;O43464-3;O43464-2;O43464	.;.;.;HTRA2_HUMAN	V	182;182;169	ENSP00000258080:G182V;ENSP00000312893:G182V;ENSP00000399166:G169V	ENSP00000258080:G182V	G	+	2	0	HTRA2	74611290	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.391000	0.97249	2.747000	0.94245	0.462000	0.41574	GGC		0.622	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		11	53	1	0	2.81e-09	4.67e-09	11	53				
TRABD2A	129293	broad.mit.edu	37	2	85051144	85051144	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:85051144G>A	ENST00000409520.2	-	6	1309	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	TRABD2A_ENST00000335459.5_Missense_Mutation_p.R374W|TRABD2A_ENST00000479944.1_5'UTR	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	423					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										GACCGCCTCCGCTTCTTCCGG	0.657																																						uc010ysl.1		NA																	0				ovary(1)	1						c.(1267-1269)CGG>TGG		hypothetical protein LOC129293 precursor							36.0	42.0	40.0					2																	85051144		2195	4299	6494	SO:0001583	missense	129293					integral to membrane		g.chr2:85051144G>A	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1267C>T	2.37:g.85051144G>A	ENSP00000387075:p.Arg423Trp					C2orf89_uc002sou.3_Missense_Mutation_p.R374W	p.R423W	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN			6	1356	-			423			Extracellular (Potential).		B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37	c.1267C>T		.	.	.	.	.	.	.	.	.	.	g	9.680	1.149065	0.21288	.	.	ENSG00000186854	ENST00000335459;ENST00000409520	T;T	0.26223	1.75;1.8	3.8	-3.18	0.05186	.	0.238810	0.23249	N	0.050274	T	0.13114	0.0318	.	.	.	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.09707	-1.0662	9	0.49607	T	0.09	.	4.4189	0.11470	0.5171:0.0:0.3198:0.1631	.	423;374	Q86V40;Q86V40-2	CB089_HUMAN;.	W	374;423	ENSP00000335004:R374W;ENSP00000387075:R423W	ENSP00000335004:R374W	R	-	1	2	C2orf89	84904655	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.573000	0.02134	-0.452000	0.07087	-0.497000	0.04613	CGG		0.657	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		7	21	0	0	0	0	7	21				
LRP1B	53353	broad.mit.edu	37	2	141457979	141457979	+	Silent	SNP	C	C	T	rs143179717	byFrequency	TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:141457979C>T	ENST00000389484.3	-	41	7610	c.6639G>A	c.(6637-6639)agG>agA	p.R2213R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2213					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)			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)		TCTCATATGGCCTTATTGGGG	0.348										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(6637-6639)AGG>AGA		low density lipoprotein-related protein 1B		C		1,4405	2.1+/-5.4	0,1,2202	125.0	133.0	131.0		6639	1.1	1.0	2	dbSNP_134	131	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	LRP1B	NM_018557.2		0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308		2213/4600	141457979	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141457979C>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.6639G>A	2.37:g.141457979C>T		TSP Lung(27;0.18)					p.R2213R	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)	41	7611	-		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)	2213			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.6639G>A	CCDS2182.1																																																																																				0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		22	79	0	0	0	0	22	79				
COBLL1	22837	broad.mit.edu	37	2	165551294	165551294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:165551294G>A	ENST00000392717.2	-	13	2840	c.2836C>T	c.(2836-2838)Cag>Tag	p.Q946*	COBLL1_ENST00000342193.4_Nonsense_Mutation_p.Q908*|COBLL1_ENST00000375458.2_Nonsense_Mutation_p.Q870*|COBLL1_ENST00000194871.6_Nonsense_Mutation_p.Q975*|COBLL1_ENST00000409184.3_Nonsense_Mutation_p.Q908*			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	946						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTCTGCATCTGCAAAAAAAAA	0.413																																						uc010zcw.1		NA																	0				ovary(2)|pancreas(1)	3						c.(2923-2925)CAG>TAG		COBL-like 1							33.0	35.0	34.0					2																	165551294		2203	4300	6503	SO:0001587	stop_gained	22837							g.chr2:165551294G>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2836C>T	2.37:g.165551294G>A	ENSP00000376478:p.Gln946*					COBLL1_uc002ucp.2_Nonsense_Mutation_p.Q908*|COBLL1_uc002ucq.2_Nonsense_Mutation_p.Q870*|COBLL1_uc010zcx.1_Nonsense_Mutation_p.Q916*|COBLL1_uc002ucn.2_Nonsense_Mutation_p.Q336*|COBLL1_uc002uco.2_Nonsense_Mutation_p.Q639*	p.Q975*	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN			15	3047	-			946					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Nonsense_Mutation	SNP	ENST00000392717.2	37	c.2923C>T		.	.	.	.	.	.	.	.	.	.	G	42	9.425466	0.99167	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-10.7425	20.5666	0.99351	0.0:0.0:1.0:0.0	.	.	.	.	X	870;908;908;946;975	.	ENSP00000194871:Q975X	Q	-	1	0	COBLL1	165259540	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	3.397000	0.52572	2.854000	0.98071	0.655000	0.94253	CAG		0.413	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		14	43	0	0	0	0	14	43				
LRP2	4036	broad.mit.edu	37	2	170025080	170025080	+	Silent	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:170025080G>A	ENST00000263816.3	-	61	11889	c.11604C>T	c.(11602-11604)ggC>ggT	p.G3868G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3868	LDL-receptor class A 34. {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.G3868G(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)"""	CTGAACCATCGCCACAGTCAT	0.453																																						uc002ues.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(11602-11604)GGC>GGT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						155.0	133.0	141.0					2																	170025080		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:170025080G>A		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.11604C>T	2.37:g.170025080G>A							p.G3868G	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	61	11817	-			3868			LDL-receptor class A 34.|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.11604C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	9.148	1.015489	0.19355	.	.	ENSG00000081479	ENST00000536293	.	.	.	5.82	-2.26	0.06867	.	.	.	.	.	T	0.39118	0.1066	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34453	-0.9828	5	0.30078	T	0.28	.	1.2616	0.02002	0.388:0.0907:0.2618:0.2595	.	.	.	.	V	533	.	ENSP00000438157:A533V	A	-	2	0	LRP2	169733326	0.030000	0.19436	0.996000	0.52242	0.817000	0.46193	-0.715000	0.04997	-0.075000	0.12798	-0.224000	0.12420	GCG		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		6	32	0	0	0	0	6	32				
METTL21A	151194	broad.mit.edu	37	2	208486636	208486636	+	Silent	SNP	G	G	A	rs552968267	byFrequency	TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:208486636G>A	ENST00000411432.1	-	3	369	c.153C>T	c.(151-153)atC>atT	p.I51I	METTL21A_ENST00000448823.2_Intron|METTL21A_ENST00000272839.3_Silent_p.I51I|METTL21A_ENST00000426075.1_Silent_p.I51I|METTL21A_ENST00000432416.1_Silent_p.I51I|METTL21A_ENST00000425132.1_Silent_p.I51I|METTL21A_ENST00000458426.1_Silent_p.I51I|METTL21A_ENST00000442521.1_Silent_p.I51I|METTL21A_ENST00000406927.2_Silent_p.I51I|METTL21A_ENST00000448007.2_Silent_p.I51I	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	51					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						TGGAAAGAACGATGGCCTGAA	0.582																																						uc002vcf.2		NA																	0					0						c.(151-153)ATC>ATT		hypothetical protein LOC151194							67.0	59.0	62.0					2																	208486636		2203	4300	6503	SO:0001819	synonymous_variant	151194					integral to membrane	methyltransferase activity	g.chr2:208486636G>A	AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 557b"", ""heat shock protein 70kDa lysine (K) methyltransferase"""	615257	"""family with sequence similarity 119, member A"""	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.153C>T	2.37:g.208486636G>A						FAM119A_uc002vce.2_Silent_p.I51I|FAM119A_uc010fuk.1_Silent_p.I51I|FAM119A_uc002vcg.3_Silent_p.I51I	p.I51I	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)	3	313	-			51			Helical; (Potential).		Q53RV0|Q8N1Z9|Q96GH6	Silent	SNP	ENST00000411432.1	37	c.153C>T	CCDS2376.1																																																																																				0.582	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280		13	58	0	0	0	0	13	58				
RRBP1	6238	broad.mit.edu	37	20	17623695	17623695	+	Missense_Mutation	SNP	C	C	T	rs144923230		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr20:17623695C>T	ENST00000377813.1	-	4	2293	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K	RRBP1_ENST00000360807.4_Missense_Mutation_p.E231K|RRBP1_ENST00000455029.2_Missense_Mutation_p.E5K|RRBP1_ENST00000246043.4_Missense_Mutation_p.E664K|RRBP1_ENST00000377807.2_Missense_Mutation_p.E231K			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	664					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GCCTCGCCCTCGTTGAACACC	0.632																																						uc002wpv.1		NA																	0				ovary(1)	1						c.(691-693)GAG>AAG		ribosome binding protein 1		C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	110.0	84.0	93.0		691,691	5.6	0.9	20	dbSNP_134	93	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	RRBP1	NM_001042576.1,NM_004587.2	56,56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	231/978,231/978	17623695	2,13004	2203	4300	6503	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17623695C>T	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.1990G>A	20.37:g.17623695C>T	ENSP00000367044:p.Glu664Lys					RRBP1_uc002wpu.2_Missense_Mutation_p.E5K|RRBP1_uc002wpw.1_Missense_Mutation_p.E231K|RRBP1_uc010gcl.1_Missense_Mutation_p.E5K	p.E231K	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN			5	1045	-			664			Cytoplasmic (Potential).		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.691G>A		.	.	.	.	.	.	.	.	.	.	C	23.6	4.432914	0.83776	0.0	2.33E-4	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33	5.56	5.56	0.83823	.	0.000000	0.36519	N	0.002556	T	0.46347	0.1388	L	0.45581	1.43	0.58432	D	0.999999	P	0.49358	0.923	B	0.37015	0.239	T	0.46219	-0.9207	10	0.33940	T	0.23	-43.1976	11.9223	0.52799	0.0:0.9207:0.0:0.0793	.	231	Q9P2E9-3	.	K	231;664;231;664;5	ENSP00000354045:E231K;ENSP00000367044:E664K;ENSP00000367038:E231K;ENSP00000246043:E664K;ENSP00000401206:E5K	ENSP00000246043:E664K	E	-	1	0	RRBP1	17571695	1.000000	0.71417	0.924000	0.36721	0.873000	0.50193	4.853000	0.62911	2.628000	0.89032	0.591000	0.81541	GAG		0.632	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		10	31	0	0	0	0	10	31				
PAX1	5075	broad.mit.edu	37	20	21687260	21687260	+	Silent	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr20:21687260C>T	ENST00000398485.2	+	2	525	c.471C>T	c.(469-471)acC>acT	p.T157T	PAX1_ENST00000444366.2_Silent_p.T133T|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	157	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						ACAACGAGACCGGCTCCATTC	0.657																																						uc002wsj.2		NA																	0				upper_aerodigestive_tract(1)|kidney(1)	2						c.(469-471)ACC>ACT		paired box 1							53.0	56.0	55.0					20																	21687260		2203	4299	6502	SO:0001819	synonymous_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687260C>T		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.471C>T	20.37:g.21687260C>T						PAX1_uc010zsl.1_Silent_p.T157T|PAX1_uc010zsm.1_Silent_p.T133T	p.T157T	NM_006192	NP_006183	P15863	PAX1_HUMAN			2	525	+			157			Paired.		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.471C>T	CCDS13146.2																																																																																				0.657	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			13	52	0	0	0	0	13	52				
TRPM2	7226	broad.mit.edu	37	21	45820227	45820227	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr21:45820227T>G	ENST00000397928.1	+	15	2739	c.2294T>G	c.(2293-2295)cTg>cGg	p.L765R	TRPM2_ENST00000397932.2_Missense_Mutation_p.L765R|TRPM2_ENST00000300482.5_Missense_Mutation_p.L765R|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.L745R	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	765					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCCTTCCCGCTGCTCCTCACC	0.692																																						uc002zet.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2293-2295)CTG>CGG		transient receptor potential cation channel,							94.0	67.0	76.0					21																	45820227		2202	4300	6502	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45820227T>G	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2294T>G	21.37:g.45820227T>G	ENSP00000381023:p.Leu765Arg					TRPM2_uc002zeu.1_Missense_Mutation_p.L765R|TRPM2_uc002zew.1_Missense_Mutation_p.L765R|TRPM2_uc010gpt.1_Missense_Mutation_p.L765R|TRPM2_uc002zex.1_Missense_Mutation_p.L551R|TRPM2_uc002zey.1_Missense_Mutation_p.L278R	p.L765R	NM_003307	NP_003298	O94759	TRPM2_HUMAN			16	2507	+			765			Helical; (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.2294T>G	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.036373	0.75617	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000001	D	0.92433	0.7598	M	0.86028	2.79	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.982;0.982;0.982	D	0.93639	0.6963	10	0.87932	D	0	-18.2631	13.982	0.64310	0.0:0.0:0.0:1.0	.	765;551;765	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	R	765;765;745;765	ENSP00000300482:L765R;ENSP00000381023:L765R;ENSP00000300481:L745R;ENSP00000381026:L765R	ENSP00000300481:L745R	L	+	2	0	TRPM2	44644655	0.997000	0.39634	0.915000	0.36163	0.693000	0.40251	5.401000	0.66326	1.789000	0.52484	0.443000	0.29094	CTG		0.692	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		11	22	0	0	0	0	11	22				
CHCHD4	131474	broad.mit.edu	37	3	14154580	14154580	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:14154580G>A	ENST00000396914.3	-	3	417	c.236C>T	c.(235-237)aCg>aTg	p.T79M	CHCHD4_ENST00000295767.5_Missense_Mutation_p.T92M	NM_001098502.1	NP_001091972.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	79	CHCH.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein import into mitochondrial intermembrane space (GO:0045041)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)	mitochondrial intermembrane space (GO:0005758)	protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GATCTCCTCCGTGCTATAGTG	0.522																																						uc003byj.3		NA																	0					0						c.(235-237)ACG>ATG		coiled-coil-helix-coiled-coil-helix domain							86.0	82.0	83.0					3																	14154580		2203	4300	6503	SO:0001583	missense	131474				protein transport|transmembrane transport	mitochondrial intermembrane space		g.chr3:14154580G>A	BC017082	CCDS2617.1, CCDS43054.1	3p25.1	2012-10-15			ENSG00000163528	ENSG00000163528		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	26467	protein-coding gene	gene with protein product	"""translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae)"", ""mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae)"""	611077				22214851	Standard	NM_001098502		Approved	FLJ31709, TIMM40, MIA40	uc003byj.4	Q8N4Q1	OTTHUMG00000129805	ENST00000396914.3:c.236C>T	3.37:g.14154580G>A	ENSP00000380122:p.Thr79Met					CHCHD4_uc003byi.3_Missense_Mutation_p.T92M	p.T79M	NM_001098502	NP_001091972	Q8N4Q1	MIA40_HUMAN			3	431	-			79			CHCH.		A8K3Z9|Q96AI2|Q96MY6	Missense_Mutation	SNP	ENST00000396914.3	37	c.236C>T	CCDS43054.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567247	0.65651	.	.	ENSG00000163528	ENST00000295767;ENST00000396914	T;T	0.78246	-1.16;-1.16	5.6	0.0743	0.14394	CHCH (1);	0.248082	0.46442	D	0.000288	D	0.83848	0.5343	M	0.74467	2.265	0.40663	D	0.982141	D;D	0.71674	0.98;0.998	P;P	0.60682	0.708;0.878	D	0.84444	0.0584	10	0.59425	D	0.04	-9.8193	13.2656	0.60131	0.0:0.1004:0.2377:0.6619	.	79;92	Q8N4Q1;Q8N4Q1-2	MIA40_HUMAN;.	M	92;79	ENSP00000295767:T92M;ENSP00000380122:T79M	ENSP00000295767:T92M	T	-	2	0	CHCHD4	14129581	0.914000	0.31030	0.934000	0.37439	0.851000	0.48451	1.252000	0.32874	-0.008000	0.14320	-0.238000	0.12139	ACG		0.522	CHCHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340423.1	NM_144636		11	29	0	0	0	0	11	29				
RBMS3	27303	broad.mit.edu	37	3	30032698	30032698	+	Silent	SNP	T	T	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:30032698T>C	ENST00000383767.2	+	14	1641	c.1305T>C	c.(1303-1305)tcT>tcC	p.S435S	RBMS3_ENST00000456853.1_Silent_p.S432S|RBMS3_ENST00000434693.2_Silent_p.S434S|RBMS3_ENST00000396583.3_Silent_p.S432S|RBMS3_ENST00000383766.2_Silent_p.S417S|RBMS3_ENST00000273139.9_Silent_p.S419S|RBMS3_ENST00000452462.1_Silent_p.S419S			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	435					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				ACCAACAGTCTAAGTAAGTCT	0.453																																						uc003cel.2		NA																	0				central_nervous_system(1)	1						c.(1303-1305)TCT>TCC		RNA binding motif, single stranded interacting							219.0	158.0	179.0					3																	30032698		2203	4300	6503	SO:0001819	synonymous_variant	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:30032698T>C	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.1305T>C	3.37:g.30032698T>C						RBMS3_uc003cek.2_Silent_p.S419S|RBMS3_uc010hfq.2_Silent_p.S432S|RBMS3_uc003cem.2_Silent_p.S417S|RBMS3_uc010hfr.2_Silent_p.S419S	p.S435S	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN			14	1535	+		Ovarian(412;0.0956)	435					A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Silent	SNP	ENST00000383767.2	37	c.1305T>C	CCDS33724.1																																																																																				0.453	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		15	51	0	0	0	0	15	51				
C3orf38	285237	broad.mit.edu	37	3	88202409	88202409	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:88202409C>T	ENST00000318887.3	+	2	473	c.163C>T	c.(163-165)Caa>Taa	p.Q55*	C3orf38_ENST00000486971.1_Nonsense_Mutation_p.Q55*|C3orf38_ENST00000464919.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	55					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGCATACAGTCAAAGTGCAGA	0.383																																						uc003dqw.2		NA																	0					0						c.(163-165)CAA>TAA		hypothetical protein LOC285237							61.0	59.0	60.0					3																	88202409		2203	4300	6503	SO:0001587	stop_gained	285237				apoptosis			g.chr3:88202409C>T	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.163C>T	3.37:g.88202409C>T	ENSP00000322469:p.Gln55*						p.Q55*	NM_173824	NP_776185	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	3	474	+		Lung NSC(201;0.17)	55					B2R8X6|Q8TC85	Nonsense_Mutation	SNP	ENST00000318887.3	37	c.163C>T	CCDS2921.2	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126574	0.56721	.	.	ENSG00000179021	ENST00000318887;ENST00000486971	.	.	.	5.94	5.94	0.96194	.	0.055580	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-18.421	14.2268	0.65866	0.149:0.851:0.0:0.0	.	.	.	.	X	55	.	ENSP00000322469:Q55X	Q	+	1	0	C3orf38	88285099	1.000000	0.71417	0.998000	0.56505	0.629000	0.37895	4.043000	0.57354	2.820000	0.97059	0.650000	0.86243	CAA		0.383	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		8	32	0	0	0	0	8	32				
COL6A6	131873	broad.mit.edu	37	3	130289967	130289967	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:130289967C>T	ENST00000358511.6	+	6	2738	c.2707C>T	c.(2707-2709)Cgg>Tgg	p.R903W	COL6A6_ENST00000453409.2_Missense_Mutation_p.R903W	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	903	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R903W(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CACTGAAGCCCGGGGCAGCCG	0.542																																						uc010htl.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2707-2709)CGG>TGG		collagen type VI alpha 6 precursor							39.0	41.0	40.0					3																	130289967		1879	4093	5972	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130289967C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2707C>T	3.37:g.130289967C>T	ENSP00000351310:p.Arg903Trp						p.R903W	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			6	2738	+			903			VWFA 5.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2707C>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787741	0.49997	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.84298	-1.83;-1.83	4.92	2.0	0.26442	von Willebrand factor, type A (3);	0.261718	0.27202	N	0.020443	T	0.79799	0.4508	M	0.67569	2.06	0.24486	N	0.994322	B	0.06786	0.001	B	0.06405	0.002	T	0.66991	-0.5783	10	0.38643	T	0.18	.	5.6574	0.17650	0.3905:0.4609:0.0:0.1487	.	903	A6NMZ7	CO6A6_HUMAN	W	903	ENSP00000351310:R903W;ENSP00000399236:R903W	ENSP00000351310:R903W	R	+	1	2	COL6A6	131772657	0.000000	0.05858	0.997000	0.53966	0.958000	0.62258	-0.658000	0.05329	0.181000	0.19994	0.561000	0.74099	CGG		0.542	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		4	30	0	0	0	0	4	30				
SPSB4	92369	broad.mit.edu	37	3	140785630	140785630	+	Silent	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:140785630C>T	ENST00000310546.2	+	2	1428	c.684C>T	c.(682-684)aaC>aaT	p.N228N		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	228	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCTACATCAACGGCCTTGACC	0.632																																						uc003ett.2		NA																	0					0						c.(682-684)AAC>AAT		splA/ryanodine receptor domain and SOCS box							64.0	61.0	62.0					3																	140785630		2203	4300	6503	SO:0001819	synonymous_variant	92369				intracellular signal transduction	cytoplasm	protein binding	g.chr3:140785630C>T		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.684C>T	3.37:g.140785630C>T						SPSB4_uc010hum.2_Silent_p.N228N	p.N228N	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN			2	938	+			228			B30.2/SPRY.			Silent	SNP	ENST00000310546.2	37	c.684C>T	CCDS3115.1																																																																																				0.632	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862		11	36	0	0	0	0	11	36				
NLGN1	22871	broad.mit.edu	37	3	173998386	173998386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:173998386G>T	ENST00000457714.1	+	7	2194	c.1765G>T	c.(1765-1767)Gga>Tga	p.G589*	NLGN1_ENST00000361589.4_Nonsense_Mutation_p.G589*|NLGN1_ENST00000545397.1_Nonsense_Mutation_p.G589*|NLGN1_ENST00000401917.3_Nonsense_Mutation_p.G629*	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	606					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TCTCCATATTGGATTAAAACC	0.393																																						uc003fio.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(1765-1767)GGA>TGA		neuroligin 1							105.0	102.0	103.0					3																	173998386		2203	4300	6503	SO:0001587	stop_gained	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998386G>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1765G>T	3.37:g.173998386G>T	ENSP00000392500:p.Gly589*					NLGN1_uc003fip.1_Nonsense_Mutation_p.G589*	p.G589*	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2188	+	Ovarian(172;0.0025)		606			Extracellular (Potential).		Q9UPT2	Nonsense_Mutation	SNP	ENST00000457714.1	37	c.1765G>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	34	5.343595	0.95783	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7714	0.96367	0.0:0.0:1.0:0.0	.	.	.	.	X	589;589;589;629	.	ENSP00000354541:G589X	G	+	1	0	NLGN1	175481080	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.666000	0.90696	0.655000	0.94253	GGA		0.393	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		8	71	1	0	3.1e-07	5.03e-07	8	71				
GRXCR1	389207	broad.mit.edu	37	4	43022418	43022418	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:43022418C>G	ENST00000399770.2	+	3	675	c.675C>G	c.(673-675)gaC>gaG	p.D225E		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	225	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AACTGCAAGACATCCTAACCA	0.308																																						uc003gwt.2		NA																	0				ovary(1)	1						c.(673-675)GAC>GAG		glutaredoxin, cysteine rich 1							84.0	81.0	82.0					4																	43022418		1841	4080	5921	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:43022418C>G		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.675C>G	4.37:g.43022418C>G	ENSP00000382670:p.Asp225Glu						p.D225E	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			3	675	+			225			Glutaredoxin.			Missense_Mutation	SNP	ENST00000399770.2	37	c.675C>G	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610091	0.28712	.	.	ENSG00000215203	ENST00000399770	T	0.74315	-0.83	5.79	3.75	0.43078	Glutaredoxin (1);Thioredoxin-like fold (2);	0.000000	0.64402	U	0.000001	T	0.61261	0.2333	N	0.02539	-0.55	0.42632	D	0.993381	D	0.76494	0.999	D	0.76071	0.987	T	0.61222	-0.7106	10	0.05620	T	0.96	-5.0044	9.9004	0.41344	0.0:0.7725:0.0:0.2275	.	225	A8MXD5	GRCR1_HUMAN	E	225	ENSP00000382670:D225E	ENSP00000382670:D225E	D	+	3	2	GRXCR1	42717175	0.997000	0.39634	1.000000	0.80357	0.967000	0.64934	0.423000	0.21313	1.455000	0.47813	0.484000	0.47621	GAC		0.308	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		8	32	0	0	0	0	8	32				
LNX1	84708	broad.mit.edu	37	4	54362403	54362403	+	Silent	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:54362403G>A	ENST00000263925.7	-	6	1451	c.1137C>T	c.(1135-1137)agC>agT	p.S379S	LNX1_ENST00000306888.2_Silent_p.S283S|FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000502373.1_RNA	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	379					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)			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)			TCACATGAAAGCTGTCATCTC	0.542																																						uc003hag.3		NA																	0		p.A379A(1)		ovary(2)|central_nervous_system(2)	4						c.(1135-1137)AGC>AGT		ligand of numb-protein X 1 isoform a							86.0	87.0	87.0					4																	54362403		2203	4300	6503	SO:0001819	synonymous_variant	84708					cytoplasm	zinc ion binding	g.chr4:54362403G>A	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.1137C>T	4.37:g.54362403G>A						PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Silent_p.S283S|LNX1_uc003hah.3_Intron	p.S379S	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		6	1393	-	all_neural(26;0.153)		379					Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	ENST00000263925.7	37	c.1137C>T	CCDS47057.1																																																																																				0.542	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			25	95	0	0	0	0	25	95				
ADAM29	11086	broad.mit.edu	37	4	175898390	175898390	+	Missense_Mutation	SNP	C	C	A	rs146793989		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:175898390C>A	ENST00000359240.3	+	5	2384	c.1714C>A	c.(1714-1716)Cat>Aat	p.H572N	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.H572N|ADAM29_ENST00000445694.1_Missense_Mutation_p.H572N|ADAM29_ENST00000404450.4_Missense_Mutation_p.H572N	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	572	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TACTACTGTGCATTGGGCTCG	0.408																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NA																	0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(1714-1716)CAT>AAT		ADAM metallopeptidase domain 29 preproprotein							184.0	173.0	177.0					4																	175898390		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898390C>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1714C>A	4.37:g.175898390C>A	ENSP00000352177:p.His572Asn					ADAM29_uc003iud.2_Missense_Mutation_p.H572N|ADAM29_uc010irr.2_Missense_Mutation_p.H572N|ADAM29_uc011cki.1_Missense_Mutation_p.H572N	p.H572N	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2384	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	572			Cys-rich.|Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1714C>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100201	0.37048	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	3.69	1.94	0.25998	ADAM, cysteine-rich (2);	1.186130	0.06628	U	0.758680	T	0.48572	0.1507	M	0.84511	2.7	0.09310	N	1	D	0.76494	0.999	D	0.77004	0.989	T	0.10222	-1.0639	9	.	.	.	.	6.4777	0.22045	0.1803:0.7177:0.0:0.102	.	572	Q9UKF5	ADA29_HUMAN	N	572	ENSP00000352177:H572N;ENSP00000414544:H572N;ENSP00000384229:H572N;ENSP00000423517:H572N	.	H	+	1	0	ADAM29	176134965	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.338000	0.07842	0.525000	0.28522	-0.152000	0.13540	CAT		0.408	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				22	104	1	0	1.5e-11	2.55e-11	22	104				
SEMA6A	57556	broad.mit.edu	37	5	115831982	115831982	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr5:115831982C>T	ENST00000343348.6	-	5	1094	c.307G>A	c.(307-309)Gat>Aat	p.D103N	SEMA6A_ENST00000503962.1_5'UTR|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.D103N|SEMA6A_ENST00000510263.1_Missense_Mutation_p.D103N|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	103	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GTGTCTACatcggcctgtcta	0.418																																						uc010jck.2		NA																	0				ovary(2)	2						c.(307-309)GAT>AAT		sema domain, transmembrane domain (TM), and							167.0	166.0	166.0					5																	115831982		1868	4106	5974	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115831982C>T	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.307G>A	5.37:g.115831982C>T	ENSP00000345512:p.Asp103Asn					SEMA6A_uc003krx.3_Missense_Mutation_p.D103N	p.D103N	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	5	1016	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	103			Sema.|Extracellular (Potential).		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.307G>A	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	C	34	5.388839	0.95988	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009;ENST00000509665	T;T;T;T;T	0.34667	1.77;1.77;1.77;1.35;1.35	6.16	6.16	0.99307	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	M	0.69248	2.105	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.68765	0.947;0.96	T	0.59768	-0.7392	10	0.87932	D	0	.	20.4549	0.99139	0.0:1.0:0.0:0.0	.	103;103	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	N	103	ENSP00000345512:D103N;ENSP00000257414:D103N;ENSP00000424388:D103N;ENSP00000421935:D103N;ENSP00000425553:D103N	ENSP00000257414:D103N	D	-	1	0	SEMA6A	115859881	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GAT		0.418	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		16	88	0	0	0	0	16	88				
PCDHB13	56123	broad.mit.edu	37	5	140595589	140595589	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr5:140595589G>T	ENST00000341948.4	+	1	2081	c.1894G>T	c.(1894-1896)Gag>Tag	p.E632*		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	632	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)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCTGAGCGAGCGCGACGC	0.697																																						uc003lja.1		NA																	0				skin(2)|ovary(1)	3						c.(1894-1896)GAG>TAG		protocadherin beta 13 precursor							19.0	21.0	20.0					5																	140595589		1706	3545	5251	SO:0001587	stop_gained	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595589G>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1894G>T	5.37:g.140595589G>T	ENSP00000345491:p.Glu632*						p.E632*	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2081	+			632			Cadherin 6.|Extracellular (Potential).		A8K9V6	Nonsense_Mutation	SNP	ENST00000341948.4	37	c.1894G>T	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	39	7.373940	0.98245	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	.	.	.	3.6	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.8879	0.70584	0.0:0.0:1.0:0.0	.	.	.	.	X	632;632;578	.	ENSP00000345491:E632X	E	+	1	0	PCDHB13	140575773	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	6.225000	0.72271	1.576000	0.49790	0.298000	0.19748	GAG		0.697	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		13	57	1	0	3.53e-06	5.58e-06	13	57				
FAXDC2	10826	broad.mit.edu	37	5	154214197	154214197	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr5:154214197G>A	ENST00000326080.5	-	4	655	c.232C>T	c.(232-234)Ctc>Ttc	p.L78F	FAXDC2_ENST00000520968.1_Missense_Mutation_p.L78F|FAXDC2_ENST00000518651.1_Missense_Mutation_p.L55F|FAXDC2_ENST00000523997.1_5'UTR|FAXDC2_ENST00000517938.1_Missense_Mutation_p.L55F	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	78					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)										ATAAAGAAGAGGATCCACTCC	0.453																																						uc003lvs.3		NA																	0				ovary(1)	1						c.(232-234)CTC>TTC		hypothetical protein LOC10826							48.0	52.0	50.0					5																	154214197		1893	4134	6027	SO:0001583	missense	10826				fatty acid biosynthetic process	integral to membrane	iron ion binding|oxidoreductase activity	g.chr5:154214197G>A	AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"""Fatty acid hydroxylase domain containing"""	1334	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 4"""	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.232C>T	5.37:g.154214197G>A	ENSP00000320604:p.Leu78Phe					C5orf4_uc011dde.1_Missense_Mutation_p.L55F	p.L78F	NM_032385	NP_115761	Q96IV6	CE004_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		4	403	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	78			Helical; (Potential).		B4DIE1|Q9BSX6|Q9H8C7	Missense_Mutation	SNP	ENST00000326080.5	37	c.232C>T	CCDS43390.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001350	0.74818	.	.	ENSG00000170271	ENST00000326080;ENST00000517938;ENST00000519501;ENST00000518651;ENST00000520968	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	6.03	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.72542	0.3473	M	0.89715	3.055	0.58432	D	0.999997	D	0.60160	0.987	P	0.56434	0.798	T	0.76666	-0.2875	10	0.66056	D	0.02	.	6.7618	0.23544	0.1451:0.0:0.7102:0.1447	.	78	Q96IV6	CE004_HUMAN	F	78;55;55;55;78	ENSP00000320604:L78F;ENSP00000430286:L55F;ENSP00000429837:L55F;ENSP00000429876:L55F;ENSP00000429406:L78F	ENSP00000320604:L78F	L	-	1	0	C5orf4	154194390	0.997000	0.39634	0.949000	0.38748	0.973000	0.67179	1.094000	0.30951	1.557000	0.49525	0.557000	0.71058	CTC		0.453	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385		11	32	0	0	0	0	11	32				
FAM71B	153745	broad.mit.edu	37	5	156592924	156592924	+	Missense_Mutation	SNP	C	C	T	rs376135369		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr5:156592924C>T	ENST00000302938.4	-	1	351	c.256G>A	c.(256-258)Gtc>Atc	p.V86I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	86						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAACCATGACGTCAGGCAGT	0.542																																						uc003lwn.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(256-258)GTC>ATC		family with sequence similarity 71, member B		C	ILE/VAL	0,4406		0,0,2203	102.0	97.0	99.0		256	3.8	0.9	5		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM71B	NM_130899.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	86/606	156592924	1,13005	2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592924C>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.256G>A	5.37:g.156592924C>T	ENSP00000305596:p.Val86Ile						p.V86I	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	356	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	86					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.256G>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062228	0.36373	0.0	1.16E-4	ENSG00000170613	ENST00000302938	T	0.05855	3.38	4.67	3.8	0.43715	.	0.089662	0.42964	D	0.000640	T	0.09468	0.0233	L	0.52905	1.665	0.30199	N	0.798831	D	0.64830	0.994	P	0.47075	0.536	T	0.05435	-1.0885	10	0.39692	T	0.17	-24.314	9.5994	0.39593	0.0:0.8997:0.0:0.1003	.	86	Q8TC56	FA71B_HUMAN	I	86	ENSP00000305596:V86I	ENSP00000305596:V86I	V	-	1	0	FAM71B	156525502	0.975000	0.34042	0.861000	0.33841	0.060000	0.15804	2.520000	0.45554	1.265000	0.44215	0.563000	0.77884	GTC		0.542	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		19	76	0	0	0	0	19	76				
CLIC1	1192	broad.mit.edu	37	6	31698702	31698702	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:31698702C>T	ENST00000375780.2	-	7	1215	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	CLIC1_ENST00000375779.2_Missense_Mutation_p.A215T|DDAH2_ENST00000375792.3_5'Flank|DDAH2_ENST00000375789.2_5'Flank|DDAH2_ENST00000375787.2_5'Flank|DDAH2_ENST00000480913.1_5'Flank|CLIC1_ENST00000375784.3_Missense_Mutation_p.A215T|CLIC1_ENST00000395892.1_Missense_Mutation_p.A215T			O00299	CLIC1_HUMAN	chloride intracellular channel 1	215	GST C-terminal.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|platelet aggregation (GO:0070527)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of mitochondrial membrane potential (GO:0051881)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|brush border (GO:0005903)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						TCTTCCCGGGCGTAGGCATTG	0.582																																						uc003nwr.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(643-645)GCC>ACC		chloride intracellular channel 1							88.0	69.0	76.0					6																	31698702		1511	2709	4220	SO:0001583	missense	1192				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	g.chr6:31698702C>T	U93205	CCDS4719.1	6p21.3	2012-09-26			ENSG00000213719	ENSG00000213719		"""Ion channels / Chloride channels : Intracellular"""	2062	protein-coding gene	gene with protein product		602872				9139710	Standard	NM_001288		Approved	NCC27, p64CLCP	uc003nwr.3	O00299	OTTHUMG00000031103	ENST00000375780.2:c.643G>A	6.37:g.31698702C>T	ENSP00000364935:p.Ala215Thr					DDAH2_uc003nwp.2_5'Flank|DDAH2_uc003nwq.2_5'Flank|CLIC1_uc003rje.2_Missense_Mutation_p.A215T	p.A215T	NM_001288	NP_001279	O00299	CLIC1_HUMAN			6	907	-			215			GST C-terminal.		Q15089|Q502X1	Missense_Mutation	SNP	ENST00000375780.2	37	c.643G>A	CCDS4719.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641405	0.29157	.	.	ENSG00000213719	ENST00000375784;ENST00000375779;ENST00000375780;ENST00000395892	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	4.77	2.98	0.34508	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.182789	0.35436	U	0.003213	D	0.82646	0.5082	L	0.46670	1.46	0.46317	D	0.998987	B	0.10296	0.003	B	0.04013	0.001	T	0.75654	-0.3243	10	0.25751	T	0.34	-1.9059	4.1194	0.10098	0.1861:0.6243:0.0:0.1896	.	215	O00299	CLIC1_HUMAN	T	215	ENSP00000364940:A215T;ENSP00000364934:A215T;ENSP00000364935:A215T;ENSP00000379229:A215T	ENSP00000364934:A215T	A	-	1	0	CLIC1	31806681	0.983000	0.35010	0.833000	0.33012	0.156000	0.22039	0.758000	0.26447	0.612000	0.30071	-0.169000	0.13324	GCC		0.582	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076167.3	NM_001288		11	49	0	0	0	0	11	49				
EPHA7	2045	broad.mit.edu	37	6	93955064	93955064	+	Missense_Mutation	SNP	G	G	A	rs151105732	byFrequency	TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:93955064G>A	ENST00000369303.4	-	16	3018	c.2834C>T	c.(2833-2835)aCg>aTg	p.T945M		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	945	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCCAGCTGCCGTGAAATTATC	0.363													G|||	7	0.00139776	0.0045	0.0014	5008	,	,		14618	0.0		0.0	False		,,,				2504	0.0					uc003poe.2		NA																	0				lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(2833-2835)ACG>ATG		ephrin receptor EphA7 precursor		G	MET/THR	16,4390	23.3+/-48.9	0,16,2187	76.0	83.0	80.0		2834	5.9	1.0	6	dbSNP_134	80	6,8594	5.0+/-18.6	0,6,4294	yes	missense	EPHA7	NM_004440.3	81	0,22,6481	AA,AG,GG		0.0698,0.3631,0.1692	possibly-damaging	945/999	93955064	22,12984	2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93955064G>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2834C>T	6.37:g.93955064G>A	ENSP00000358309:p.Thr945Met					EPHA7_uc003pof.2_Missense_Mutation_p.T940M|EPHA7_uc011eac.1_Missense_Mutation_p.T941M	p.T945M	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	16	3075	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	945			Cytoplasmic (Potential).|SAM.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2834C>T	CCDS5031.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.00	2.998833	0.54147	0.003631	6.98E-4	ENSG00000135333	ENST00000369303	T	0.06449	3.3	5.95	5.95	0.96441	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.051190	0.85682	D	0.000000	T	0.05777	0.0151	N	0.13299	0.325	0.80722	D	1	D;D;D	0.71674	0.99;0.998;0.998	P;P;D	0.64144	0.616;0.872;0.922	T	0.57388	-0.7820	10	0.22109	T	0.4	.	15.8179	0.78618	0.0:0.1352:0.8648:0.0	.	941;940;945	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	M	945	ENSP00000358309:T945M	ENSP00000358309:T945M	T	-	2	0	EPHA7	94011785	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.884000	0.87274	2.821000	0.97095	0.650000	0.86243	ACG		0.363	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			14	58	0	0	0	0	14	58				
MMS22L	253714	broad.mit.edu	37	6	97677102	97677102	+	Silent	SNP	G	G	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:97677102G>C	ENST00000275053.4	-	14	1972	c.1707C>G	c.(1705-1707)ctC>ctG	p.L569L	MMS22L_ENST00000369251.2_Silent_p.L529L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	569					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CCTTCCAAATGAGGGCTCTCT	0.448																																						uc003ppb.2		NA																	0					0						c.(1705-1707)CTC>CTG		hypothetical protein LOC253714							65.0	61.0	62.0					6																	97677102		2203	4300	6503	SO:0001819	synonymous_variant	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97677102G>C		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1707C>G	6.37:g.97677102G>C						C6orf167_uc011eaf.1_Silent_p.L529L	p.L569L	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	14	1973	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	569					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Silent	SNP	ENST00000275053.4	37	c.1707C>G	CCDS5039.1																																																																																				0.448	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		14	46	0	0	0	0	14	46				
ENPP1	5167	broad.mit.edu	37	6	132204896	132204896	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:132204896A>T	ENST00000360971.2	+	22	2313	c.2293A>T	c.(2293-2295)Atg>Ttg	p.M765L		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	765	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TATAGTGCCAATGTACCAGAG	0.279																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)	4						c.(2293-2295)ATG>TTG		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						69.0	81.0	77.0					6																	132204896		2194	4279	6473	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132204896A>T	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2293A>T	6.37:g.132204896A>T	ENSP00000354238:p.Met765Leu						p.M765L	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	22	2313	+	Breast(56;0.0505)		765			Nuclease.|Extracellular (Potential).		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.2293A>T	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298941	0.81025	.	.	ENSG00000197594	ENST00000360971	T	0.70045	-0.45	5.56	5.56	0.83823	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	T	0.79753	0.4500	M	0.89095	3.005	0.58432	D	0.999999	D	0.54601	0.967	P	0.62014	0.897	D	0.83684	0.0173	10	0.59425	D	0.04	-21.2683	15.3711	0.74564	1.0:0.0:0.0:0.0	.	765	P22413	ENPP1_HUMAN	L	765	ENSP00000354238:M765L	ENSP00000354238:M765L	M	+	1	0	ENPP1	132246589	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.208000	0.77907	2.113000	0.64589	0.482000	0.46254	ATG		0.279	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			13	70	0	0	0	0	13	70				
SASH1	23328	broad.mit.edu	37	6	148840732	148840732	+	Silent	SNP	C	C	T	rs111245321	byFrequency	TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:148840732C>T	ENST00000367467.3	+	10	1387	c.912C>T	c.(910-912)tcC>tcT	p.S304S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	304					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ATGAACGGTCCGCCCTCTACT	0.537																																						uc003qme.1		NA																	0				central_nervous_system(1)	1						c.(910-912)TCC>TCT		SAM and SH3 domain containing 1							79.0	81.0	81.0					6																	148840732		2203	4300	6503	SO:0001819	synonymous_variant	23328						protein binding	g.chr6:148840732C>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.912C>T	6.37:g.148840732C>T						SASH1_uc011eeb.1_Silent_p.S65S	p.S304S	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	10	1387	+		Ovarian(120;0.0169)	304					Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	c.912C>T	CCDS5212.1																																																																																				0.537	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		10	40	0	0	0	0	10	40				
SYNE1	23345	broad.mit.edu	37	6	152698022	152698022	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:152698022G>C	ENST00000367255.5	-	57	9636	c.9035C>G	c.(9034-9036)gCa>gGa	p.A3012G	SYNE1_ENST00000448038.1_Missense_Mutation_p.A3019G|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3019G|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3051G|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3012G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3012					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)			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)		TCTAGGCTCTGCTTTTTGCAA	0.408										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(9034-9036)GCA>GGA		spectrin repeat containing, nuclear envelope 1							79.0	73.0	75.0					6																	152698022		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.chr6:152698022G>C	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.9035C>G	6.37:g.152698022G>C	ENSP00000356224:p.Ala3012Gly	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.A3019G|SYNE1_uc003qou.3_Missense_Mutation_p.A3012G|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Missense_Mutation_p.A90G|SYNE1_uc010kjb.1_Missense_Mutation_p.A2995G	p.A3012G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	57	9637	-		Ovarian(120;0.0955)	3012			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.9035C>G	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.89|19.89	3.911791|3.911791	0.72983|0.72983	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000454018	T;T;T;T;T|.	0.56776|.	0.53;0.59;0.44;0.59;0.7|.	5.48|5.48	4.6|4.6	0.57074|0.57074	.|.	0.205063|.	0.34178|.	N|.	0.004193|.	T|T	0.60011|0.60011	0.2236|0.2236	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;D;D;D;D|.	0.59767|.	0.792;0.965;0.986;0.965;0.979|.	B;P;P;P;P|.	0.58820|.	0.197;0.706;0.587;0.706;0.846|.	T|T	0.60919|0.60919	-0.7167|-0.7167	10|5	0.21540|.	T|.	0.41|.	.|.	15.497|15.497	0.75662|0.75662	0.0:0.0:0.8603:0.1397|0.0:0.0:0.8603:0.1397	.|.	2995;3012;129;3012;3019|.	B3W695;Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.	.;SYNE1_HUMAN;.;.;.|.	G|E	3012;3019;3012;3019;3051|129	ENSP00000356224:A3012G;ENSP00000396024:A3019G;ENSP00000265368:A3012G;ENSP00000390975:A3019G;ENSP00000341887:A3051G|.	ENSP00000265368:A3012G|.	A|Q	-|-	2|1	0|0	SYNE1|SYNE1	152739715|152739715	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	4.222000|4.222000	0.58580|0.58580	1.286000|1.286000	0.44565|0.44565	0.650000|0.650000	0.86243|0.86243	GCA|CAG		0.408	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	30	0	0	0	0	7	30				
GLCCI1	113263	broad.mit.edu	37	7	8095132	8095132	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:8095132C>T	ENST00000223145.5	+	4	1323	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	256						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GGAGAAAGATCGCCAGTCACC	0.423																																						uc003srk.2		NA																	0					0						c.(766-768)CGC>TGC		glucocorticoid induced transcript 1							218.0	181.0	193.0					7																	8095132		2203	4300	6503	SO:0001583	missense	113263							g.chr7:8095132C>T	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.766C>T	7.37:g.8095132C>T	ENSP00000223145:p.Arg256Cys						p.R256C	NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	4	1325	+		Ovarian(82;0.0608)	256					A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	c.766C>T	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770008	0.69992	.	.	ENSG00000106415	ENST00000223145;ENST00000414914;ENST00000430798	.	.	.	5.71	4.82	0.62117	.	0.407958	0.27595	N	0.018672	T	0.40619	0.1124	N	0.12182	0.205	0.42971	D	0.994433	B	0.21381	0.055	B	0.14578	0.011	T	0.31280	-0.9949	9	0.52906	T	0.07	-19.4273	14.2636	0.66102	0.2697:0.7303:0.0:0.0	.	256	Q86VQ1	GLCI1_HUMAN	C	256;114;144	.	ENSP00000223145:R256C	R	+	1	0	GLCCI1	8061657	1.000000	0.71417	0.985000	0.45067	0.963000	0.63663	3.149000	0.50655	1.526000	0.49068	0.655000	0.94253	CGC		0.423	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		6	52	0	0	0	0	6	52				
VPS41	27072	broad.mit.edu	37	7	38835131	38835131	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:38835131C>A	ENST00000310301.4	-	9	705	c.651G>T	c.(649-651)atG>atT	p.M217I	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Missense_Mutation_p.M192I	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	217					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGCAGGGATACATGTCTGGGC	0.443																																						uc003tgy.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(649-651)ATG>ATT		vacuolar protein sorting 41 isoform 1							119.0	106.0	110.0					7																	38835131		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38835131C>A	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.651G>T	7.37:g.38835131C>A	ENSP00000309457:p.Met217Ile					VPS41_uc003tgz.2_Missense_Mutation_p.M192I|VPS41_uc010kxn.2_Intron	p.M217I	NM_014396	NP_055211	P49754	VPS41_HUMAN			9	677	-			217					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.651G>T	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367930	0.61513	.	.	ENSG00000006715	ENST00000310301;ENST00000395969;ENST00000413141	T;T;T	0.41400	1.0;1.0;3.33	5.82	5.82	0.92795	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	L	0.43152	1.355	0.58432	D	0.999999	B;B	0.18166	0.026;0.026	B;B	0.17433	0.018;0.018	T	0.11518	-1.0584	10	0.25106	T	0.35	-34.2153	20.0852	0.97797	0.0:1.0:0.0:0.0	.	192;217	E9PF36;P49754	.;VPS41_HUMAN	I	217;192;143	ENSP00000309457:M217I;ENSP00000379297:M192I;ENSP00000412974:M143I	ENSP00000309457:M217I	M	-	3	0	VPS41	38801656	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.955000	0.70306	2.756000	0.94617	0.561000	0.74099	ATG		0.443	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			9	50	1	0	2.18e-05	3.41e-05	9	50				
ZNF680	340252	broad.mit.edu	37	7	63982197	63982197	+	Missense_Mutation	SNP	T	T	C	rs571358100		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:63982197T>C	ENST00000309683.6	-	4	1086	c.935A>G	c.(934-936)cAt>cGt	p.H312R	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				AATTCTCTTATGGTTAGTAAG	0.333													T|||	1	0.000199681	0.0	0.0014	5008	,	,		19851	0.0		0.0	False		,,,				2504	0.0					uc003tta.2		NA																	0				ovary(1)	1						c.(934-936)CAT>CGT		zinc finger protein 680 isoform 1							36.0	38.0	38.0					7																	63982197		2203	4299	6502	SO:0001583	missense	340252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63982197T>C	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.935A>G	7.37:g.63982197T>C	ENSP00000309330:p.His312Arg					ZNF680_uc010kzr.2_Missense_Mutation_p.H239R	p.H312R	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN			4	1108	-		Lung NSC(55;0.118)|all_lung(88;0.243)	312			C2H2-type 5.		B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	c.935A>G	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	t	12.13	1.846760	0.32606	.	.	ENSG00000173041	ENST00000309683	D	0.86865	-2.18	1.36	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93969	0.8069	H	0.95950	3.745	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.91167	0.4965	9	0.87932	D	0	.	4.7382	0.12999	0.0:0.0:0.0:1.0	.	312	Q8NEM1	ZN680_HUMAN	R	312	ENSP00000309330:H312R	ENSP00000309330:H312R	H	-	2	0	ZNF680	63619632	1.000000	0.71417	0.452000	0.26994	0.399000	0.30720	5.526000	0.67116	0.588000	0.29660	0.402000	0.26972	CAT		0.333	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		8	29	0	0	0	0	8	29				
MUC17	140453	broad.mit.edu	37	7	100679245	100679245	+	Silent	SNP	A	A	G	rs368847279		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:100679245A>G	ENST00000306151.4	+	3	4612	c.4548A>G	c.(4546-4548)ttA>ttG	p.L1516L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1516	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)			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)					GCACTGCATTAACAAGTATAC	0.483																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4546-4548)TTA>TTG		mucin 17 precursor		A		0,4406		0,0,2203	226.0	206.0	213.0		4548	0.8	0.0	7		213	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MUC17	NM_001040105.1		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		1516/4494	100679245	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679245A>G	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.4548A>G	7.37:g.100679245A>G						MUC17_uc010lho.1_RNA	p.L1516L	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4601	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1516			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|23.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.4548A>G	CCDS34711.1																																																																																				0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		55	234	0	0	0	0	55	234				
PTPRZ1	5803	broad.mit.edu	37	7	121608117	121608117	+	Silent	SNP	A	A	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:121608117A>G	ENST00000393386.2	+	3	648	c.237A>G	c.(235-237)aaA>aaG	p.K79K	PTPRZ1_ENST00000449182.1_Silent_p.K79K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	79	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATCTTAAGAAACTTAAATTTC	0.299																																						uc003vjy.2		NA																	0				ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(235-237)AAA>AAG		protein tyrosine phosphatase, receptor-type,							76.0	82.0	80.0					7																	121608117		2203	4295	6498	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121608117A>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.237A>G	7.37:g.121608117A>G						PTPRZ1_uc003vjz.2_Silent_p.K79K	p.K79K	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			3	632	+			79			Extracellular (Potential).|Alpha-carbonic anhydrase.		A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.237A>G	CCDS34740.1																																																																																				0.299	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		17	51	0	0	0	0	17	51				
OR9A4	130075	broad.mit.edu	37	7	141619469	141619469	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:141619469C>T	ENST00000548136.1	+	1	853	c.794C>T	c.(793-795)aCg>aTg	p.T265M	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	265						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(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCCAAGCAAACGCAGGCAGCT	0.478																																						uc003vwu.1		NA																	0				skin(1)	1						c.(793-795)ACG>ATG		olfactory receptor, family 9, subfamily A,							72.0	76.0	74.0					7																	141619469		2203	4300	6503	SO:0001583	missense	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619469C>T		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.794C>T	7.37:g.141619469C>T	ENSP00000448789:p.Thr265Met						p.T265M	NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN			1	794	+	Melanoma(164;0.0171)		265			Extracellular (Potential).		B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	c.794C>T	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	C	3.959	-0.010659	0.07727	.	.	ENSG00000258083	ENST00000548136	T	0.00137	8.68	3.8	1.96	0.26148	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00300	0.0009	M	0.72479	2.2	0.09310	N	0.999997	D	0.55800	0.973	P	0.53954	0.738	T	0.46911	-0.9157	9	0.62326	D	0.03	-15.7247	10.6948	0.45892	0.0:0.8123:0.0:0.1877	.	265	Q8NGU2	OR9A4_HUMAN	M	265	ENSP00000448789:T265M	ENSP00000386148:T265M	T	+	2	0	OR9A4	141265938	0.000000	0.05858	0.222000	0.23844	0.062000	0.15995	-1.310000	0.02725	0.081000	0.16988	-0.797000	0.03246	ACG		0.478	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		12	66	0	0	0	0	12	66				
RARRES2	5919	broad.mit.edu	37	7	150037213	150037213	+	Silent	SNP	G	G	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:150037213G>C	ENST00000466675.1	-	2	1288	c.255C>G	c.(253-255)ccC>ccG	p.P85P	RARRES2_ENST00000482669.1_Silent_p.P85P|RARRES2_ENST00000223271.3_Silent_p.P85P|RP4-584D14.7_ENST00000563946.1_RNA			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	85					brown fat cell differentiation (GO:0050873)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of protein phosphorylation (GO:0001934)|regulation of lipid catabolic process (GO:0050994)|retinoid metabolic process (GO:0001523)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CTTTGCACTCGGGTTTCTTCC	0.582																																						uc003wha.2		NA																	0				pancreas(1)	1						c.(253-255)CCC>CCG		chemerin preproprotein							406.0	418.0	414.0					7																	150037213		2203	4300	6503	SO:0001819	synonymous_variant	5919				embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding	g.chr7:150037213G>C	U77594	CCDS5902.1	7q36.1	2013-02-25			ENSG00000106538	ENSG00000106538		"""Endogenous ligands"""	9868	protein-coding gene	gene with protein product	"""chemerin"""	601973				9270552, 17767914	Standard	NM_002889		Approved	TIG2, HP10433	uc003wha.3	Q99969	OTTHUMG00000158325	ENST00000466675.1:c.255C>G	7.37:g.150037213G>C						RARRES2_uc010lpp.1_Silent_p.P85P	p.P85P	NM_002889	NP_002880	Q99969	RARR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		3	372	-			85					Q7LE02	Silent	SNP	ENST00000466675.1	37	c.255C>G	CCDS5902.1																																																																																				0.582	RARRES2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350693.1			9	566	0	0	0	0	9	566				
VIPR2	7434	broad.mit.edu	37	7	158824757	158824757	+	Splice_Site	SNP	T	T	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:158824757T>C	ENST00000262178.2	-	11	1158	c.973A>G	c.(973-975)Agg>Ggg	p.R325G	VIPR2_ENST00000402066.1_Splice_Site_p.R466G|VIPR2_ENST00000377633.3_Splice_Site_p.R309G	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	325					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		TTGGCCAGCCTCCTGCACAGA	0.602																																					Pancreas(154;1876 1931 2329 17914 20079)	uc003woh.2		NA																	0				lung(1)|central_nervous_system(1)	2						c.(973-975)AGG>GGG		vasoactive intestinal peptide receptor 2							69.0	66.0	67.0					7																	158824757		2203	4300	6503	SO:0001630	splice_region_variant	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158824757T>C	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.972-1A>G	7.37:g.158824757T>C						VIPR2_uc010lqx.2_RNA	p.R325G	NM_003382	NP_003373	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	11	1159	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	325			Cytoplasmic (Potential).		Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	c.973A>G	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.934887	0.73442	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.43688	0.94;0.94;0.94	5.22	4.03	0.46877	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000016	T	0.70500	0.3231	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75878	-0.3162	9	.	.	.	.	10.5718	0.45204	0.0:0.0:0.1622:0.8378	.	325	P41587	VIPR2_HUMAN	G	325;309;466	ENSP00000262178:R325G;ENSP00000366860:R309G;ENSP00000384497:R466G	.	R	-	1	2	VIPR2	158517518	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.657000	0.37366	0.887000	0.36136	0.402000	0.26972	AGG		0.602	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382	Missense_Mutation	6	35	0	0	0	0	6	35				
ZFHX4	79776	broad.mit.edu	37	8	77616511	77616511	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr8:77616511G>T	ENST00000521891.2	+	2	636	c.188G>T	c.(187-189)gGt>gTt	p.G63V	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G63V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G63V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G63V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	63					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)			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)			GCCTTGCTGGGTTTCAGCGTT	0.498										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(187-189)GGT>GTT		zinc finger homeodomain 4							95.0	101.0	99.0					8																	77616511		2081	4225	6306	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616511G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.188G>T	8.37:g.77616511G>T	ENSP00000430497:p.Gly63Val	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.G63V|ZFHX4_uc003yau.1_Missense_Mutation_p.G63V|ZFHX4_uc003yaw.1_Missense_Mutation_p.G63V	p.G63V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	575	+			63					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.188G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426772	0.62733	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T;T	0.51574	0.7;0.74;0.7;1.35;0.8;1.35;0.78;0.7	5.53	5.53	0.82687	.	0.000000	0.45361	U	0.000367	T	0.54062	0.1835	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.76575	0.973;0.988;0.988;0.988	T	0.54860	-0.8230	10	0.38643	T	0.18	.	19.6556	0.95837	0.0:0.0:1.0:0.0	.	63;63;63;63	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	V	63	ENSP00000430497:G63V;ENSP00000399605:G63V;ENSP00000050961:G63V;ENSP00000428525:G63V;ENSP00000429495:G63V;ENSP00000427775:G63V;ENSP00000427739:G63V;ENSP00000430848:G63V	ENSP00000050961:G63V	G	+	2	0	ZFHX4	77779066	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.621000	0.98376	2.882000	0.98803	0.655000	0.94253	GGT		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		21	78	1	0	1.4e-16	2.41e-16	21	78				
COL14A1	7373	broad.mit.edu	37	8	121239492	121239492	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr8:121239492A>G	ENST00000297848.3	+	17	2308	c.2038A>G	c.(2038-2040)Att>Gtt	p.I680V	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.I585V|COL14A1_ENST00000309791.4_Missense_Mutation_p.I680V|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 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)			CTCACATGTTATTGAAGGCCT	0.428																																						uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(2038-2040)ATT>GTT		collagen, type XIV, alpha 1 precursor							102.0	95.0	97.0					8																	121239492		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.chr8:121239492A>G		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.2038A>G	8.37:g.121239492A>G	ENSP00000297848:p.Ile680Val					COL14A1_uc003yoy.2_Missense_Mutation_p.I358V	p.I680V	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		17	2303	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		680			Fibronectin type-III 5.			Missense_Mutation	SNP	ENST00000297848.3	37	c.2038A>G	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.688217	0.29962	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	6.03	2.24	0.28232	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.361549	0.31636	N	0.007302	T	0.40979	0.1139	L	0.43152	1.355	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.12837	0.008;0.007	T	0.20672	-1.0268	10	0.59425	D	0.04	.	7.011	0.24863	0.74:0.1254:0.1346:0.0	.	680;680	Q05707-2;Q05707	.;COEA1_HUMAN	V	680;680;585;493	ENSP00000311809:I680V;ENSP00000297848:I680V;ENSP00000247781:I585V;ENSP00000409461:I493V	ENSP00000247781:I585V	I	+	1	0	COL14A1	121308673	0.995000	0.38212	0.924000	0.36721	0.641000	0.38312	1.641000	0.37197	0.141000	0.18875	0.454000	0.30748	ATT		0.428	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		11	44	0	0	0	0	11	44				
ATAD2	29028	broad.mit.edu	37	8	124340642	124340642	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr8:124340642C>T	ENST00000287394.5	-	25	3763	c.3656G>A	c.(3655-3657)gGa>gAa	p.G1219E	ATAD2_ENST00000521903.1_Missense_Mutation_p.G537E	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1219					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CGAAGACTCTCCTGTGTTTCC	0.373																																						uc003yqh.3		NA																	0				ovary(2)	2						c.(3655-3657)GGA>GAA		ATPase family, AAA domain containing 2							166.0	159.0	161.0					8																	124340642		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124340642C>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3656G>A	8.37:g.124340642C>T	ENSP00000287394:p.Gly1219Glu					ATAD2_uc011lii.1_Missense_Mutation_p.G1010E|ATAD2_uc003yqi.3_RNA	p.G1219E	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		25	3764	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		1219					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.3656G>A	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	9.011	0.982427	0.18889	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;T	0.91945	-2.94;1.45	5.03	3.19	0.36642	.	2.229260	0.02173	N	0.059850	D	0.89636	0.6772	L	0.52573	1.65	0.25649	N	0.986118	B	0.12630	0.006	B	0.11329	0.006	T	0.71364	-0.4615	10	0.21540	T	0.41	-9.4697	7.9198	0.29839	0.0:0.734:0.0:0.2659	.	1219	Q6PL18	ATAD2_HUMAN	E	1219;537	ENSP00000287394:G1219E;ENSP00000429213:G537E	ENSP00000287394:G1219E	G	-	2	0	ATAD2	124409823	0.425000	0.25498	0.993000	0.49108	0.810000	0.45777	0.727000	0.25999	0.609000	0.30018	0.555000	0.69702	GGA		0.373	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		27	97	0	0	0	0	27	97				
MYC	4609	broad.mit.edu	37	8	128750945	128750945	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr8:128750945C>T	ENST00000259523.6	+	2	1642	c.437C>T	c.(436-438)tCa>tTa	p.S146L	MYC_ENST00000377970.2_Missense_Mutation_p.S161L|MYC_ENST00000524013.1_Missense_Mutation_p.S160L			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	146					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	AAGCTCGTCTCAGAGAAGCTG	0.622		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ysh.1		3		Dom	yes		8	8q24.12-q24.13	4609	A|T	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@		Burkitt lymphoma| amplified in other cancers|B-CLL		0				lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6						c.(436-438)TCA>TTA		myc proto-oncogene protein							33.0	37.0	36.0					8																	128750945		2203	4300	6503	SO:0001583	missense	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128750945C>T		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.437C>T	8.37:g.128750945C>T	ENSP00000259523:p.Ser146Leu		OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_uc003ysi.2_Missense_Mutation_p.S161L	p.S146L	NM_002467	NP_002458	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	3	950	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	146					A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000259523.6	37	c.437C>T		.	.	.	.	.	.	.	.	.	.	C	32	5.135438	0.94517	.	.	ENSG00000136997	ENST00000259523;ENST00000517291;ENST00000377970;ENST00000524013;ENST00000454617	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.66	4.66	0.58398	Transcription regulator Myc, N-terminal (1);	0.123354	0.52532	D	0.000076	T	0.54175	0.1842	M	0.79475	2.455	0.80722	D	1	D	0.58970	0.984	P	0.60173	0.87	T	0.60702	-0.7211	10	0.87932	D	0	-10.0086	17.0763	0.86587	0.0:1.0:0.0:0.0	.	146	P01106	MYC_HUMAN	L	146;160;161;160;127	ENSP00000259523:S146L;ENSP00000429441:S160L;ENSP00000367207:S161L;ENSP00000430235:S160L	ENSP00000259523:S146L	S	+	2	0	MYC	128820127	1.000000	0.71417	0.898000	0.35279	0.767000	0.43475	4.555000	0.60767	2.583000	0.87209	0.561000	0.74099	TCA		0.622	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			12	26	0	0	0	0	12	26				
CDKN2A	1029	broad.mit.edu	37	9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr9:21971000C>A	ENST00000304494.5	-	2	628	c.358G>T	c.(358-360)Gag>Tag	p.E120*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	120			E -> A (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.|E -> K (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1343	Whole gene deletion(1316)|Unknown(13)|Substitution - Nonsense(9)|Substitution - Missense(4)|Deletion - Frameshift(1)	p.0?(1112)|p.?(13)|p.E120*(8)|p.E120K(4)|p.E120A(1)|p.A118fs*10(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(164)|lung(150)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|upper_aerodigestive_tract(50)|oesophagus(49)|ovary(34)|kidney(30)|pancreas(30)|breast(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CD972119	CDKN2A	D		c.(358-360)GAG>TAG		cyclin-dependent kinase inhibitor 2A isoform 1							24.0	27.0	26.0					9																	21971000		2202	4298	6500	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971000C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.358G>T	9.37:g.21971000C>A	ENSP00000307101:p.Glu120*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	p.E120*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	570	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	120		E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).	ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.358G>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	37	6.320898	0.97471	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	5.93	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-15.0988	14.364	0.66792	0.0:0.8518:0.1482:0.0	.	.	.	.	X	120	.	ENSP00000307101:E120X	E	-	1	0	CDKN2A	21961000	0.585000	0.26774	1.000000	0.80357	0.613000	0.37349	1.323000	0.33701	1.489000	0.48450	0.655000	0.94253	GAG		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		19	23	1	0	2.35e-11	3.98e-11	19	23				
PTCH1	5727	broad.mit.edu	37	9	98229683	98229683	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr9:98229683C>G	ENST00000331920.6	-	15	2574	c.2275G>C	c.(2275-2277)Ggc>Cgc	p.G759R	PTCH1_ENST00000418258.1_Missense_Mutation_p.G608R|PTCH1_ENST00000430669.2_Missense_Mutation_p.G693R|PTCH1_ENST00000375274.2_Missense_Mutation_p.G758R|PTCH1_ENST00000437951.1_Missense_Mutation_p.G693R|PTCH1_ENST00000429896.2_Missense_Mutation_p.G608R|PTCH1_ENST00000421141.1_Missense_Mutation_p.G608R	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	759					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCCAGCAAGCCCAGAAAAAGG	0.527																																						uc004avk.3		NA																	0				skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(2275-2277)GGC>CGC		patched isoform L							44.0	45.0	45.0					9																	98229683		2203	4300	6503	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98229683C>G	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2275G>C	9.37:g.98229683C>G	ENSP00000332353:p.Gly759Arg					PTCH1_uc010mro.2_Missense_Mutation_p.G608R|PTCH1_uc010mrp.2_Missense_Mutation_p.G608R|PTCH1_uc010mrq.2_Missense_Mutation_p.G608R|PTCH1_uc004avl.3_Missense_Mutation_p.G608R|PTCH1_uc010mrr.2_Missense_Mutation_p.G693R|PTCH1_uc004avm.3_Missense_Mutation_p.G758R	p.G759R	NM_000264	NP_000255	Q13635	PTC1_HUMAN			15	2463	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	759			Helical; (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.2275G>C	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635344	0.87760	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.49	5.49	0.81192	.	0.159291	0.56097	D	0.000035	D	0.87489	0.6190	M	0.63843	1.955	0.42529	D	0.993036	P;P;P	0.52463	0.898;0.941;0.953	P;P;P	0.48400	0.543;0.576;0.56	D	0.87327	0.2322	10	0.42905	T	0.14	-25.818	19.3598	0.94432	0.0:1.0:0.0:0.0	.	693;758;759	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	R	759;693;608;608;195;693;608;758	ENSP00000332353:G759R;ENSP00000389744:G693R;ENSP00000399981:G608R;ENSP00000396135:G608R;ENSP00000410287:G693R;ENSP00000414823:G608R;ENSP00000364423:G758R	ENSP00000332353:G759R	G	-	1	0	PTCH1	97269504	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.032000	0.49736	2.585000	0.87301	0.655000	0.94253	GGC		0.527	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		19	32	0	0	0	0	19	32				
GSN	2934	broad.mit.edu	37	9	124091523	124091523	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr9:124091523A>G	ENST00000373818.4	+	15	2117	c.2048A>G	c.(2047-2049)gAg>gGg	p.E683G	GSN_ENST00000341272.2_Missense_Mutation_p.E632G|GSN_ENST00000412819.1_Missense_Mutation_p.E632G|GSN_ENST00000373806.1_Missense_Mutation_p.E108G|GSN_ENST00000394353.2_Missense_Mutation_p.E643G|GSN_ENST00000373808.2_Missense_Mutation_p.E632G|GSN_ENST00000449733.1_Missense_Mutation_p.E632G|GSN_ENST00000373823.3_Missense_Mutation_p.E632G|GSN_ENST00000436847.1_Missense_Mutation_p.E643G|GSN_ENST00000373807.1_Missense_Mutation_p.E414G|GSN_ENST00000545652.1_Missense_Mutation_p.E640G	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	683	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CAGATCGAAGAGGTTCCTGGT	0.577																																						uc004blf.1		NA																	0				breast(2)|ovary(1)	3						c.(2047-2049)GAG>GGG		gelsolin isoform a precursor							131.0	102.0	112.0					9																	124091523		2203	4300	6503	SO:0001583	missense	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124091523A>G	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.2048A>G	9.37:g.124091523A>G	ENSP00000362924:p.Glu683Gly					GSN_uc004bld.1_Missense_Mutation_p.E632G|GSN_uc010mvq.1_Missense_Mutation_p.E643G|GSN_uc010mvr.1_Missense_Mutation_p.E643G|GSN_uc010mvu.1_Missense_Mutation_p.E632G|GSN_uc010mvt.1_Missense_Mutation_p.E632G|GSN_uc010mvs.1_Missense_Mutation_p.E632G|GSN_uc004ble.1_Missense_Mutation_p.E632G|GSN_uc010mvv.1_Missense_Mutation_p.E632G|GSN_uc011lyh.1_Missense_Mutation_p.E649G|GSN_uc011lyi.1_Missense_Mutation_p.E632G|GSN_uc011lyj.1_Missense_Mutation_p.E656G|GSN_uc004blg.1_Missense_Mutation_p.E414G	p.E683G	NM_000177	NP_000168	P06396	GELS_HUMAN			15	2109	+			683			Actin-binding, Ca-sensitive (Potential).|Gelsolin-like 6.		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	c.2048A>G	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.808214	0.90707	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807;ENST00000373806;ENST00000373805	T;T;T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.41	5.41	0.78517	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.81550	0.4846	H	0.96748	3.875	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	0.91635	0.991;0.999;0.999;0.988;0.994	D	0.87847	0.2655	10	0.87932	D	0	-23.436	14.6344	0.68678	1.0:0.0:0.0:0.0	.	656;640;643;414;683	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	G	632;643;643;632;632;632;632;616;606;640;683;414;108;108	ENSP00000362929:E632G;ENSP00000411293:E643G;ENSP00000377882:E643G;ENSP00000409358:E632G;ENSP00000416586:E632G;ENSP00000340888:E632G;ENSP00000362914:E632G;ENSP00000445823:E640G;ENSP00000362924:E683G;ENSP00000362913:E414G;ENSP00000362912:E108G	ENSP00000340888:E632G	E	+	2	0	GSN	123131344	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.904000	0.92590	2.035000	0.60131	0.533000	0.62120	GAG		0.577	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		35	40	0	0	0	0	35	40				
SCML2	10389	broad.mit.edu	37	X	18323203	18323203	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chrX:18323203C>T	ENST00000251900.4	-	7	778	c.619G>A	c.(619-621)Gat>Aat	p.D207N		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	207					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CTCCAGCCATCAAATGTGATA	0.458																																					Esophageal Squamous(100;1252 1965 19021 35517)	uc004cyl.2		NA																	0					0						c.(619-621)GAT>AAT		sex comb on midleg-like 2							197.0	182.0	187.0					X																	18323203		2203	4300	6503	SO:0001583	missense	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18323203C>T	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.619G>A	X.37:g.18323203C>T	ENSP00000251900:p.Asp207Asn					SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.D207N|SCML2_uc011miz.1_Missense_Mutation_p.D141N	p.D207N	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN			7	776	-	Hepatocellular(33;0.183)		207			MBT 2.		Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	ENST00000251900.4	37	c.619G>A	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	c	29.1	4.980396	0.92982	.	.	ENSG00000102098	ENST00000251900;ENST00000442000	T	0.50277	0.75	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.80581	0.4650	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87255	0.2275	10	0.87932	D	0	.	18.8496	0.92222	0.0:1.0:0.0:0.0	.	175;207	B4DZR9;Q9UQR0	.;SCML2_HUMAN	N	207;175	ENSP00000251900:D207N	ENSP00000251900:D207N	D	-	1	0	SCML2	18233124	1.000000	0.71417	0.959000	0.39883	0.703000	0.40648	7.358000	0.79466	2.484000	0.83849	0.509000	0.49947	GAT		0.458	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		50	74	0	0	0	0	50	74				
PTCHD1	139411	broad.mit.edu	37	X	23411904	23411904	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chrX:23411904T>G	ENST00000379361.4	+	3	3129	c.2269T>G	c.(2269-2271)Tta>Gta	p.L757V		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	757					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TGTGCTATGCTTAATTTATGG	0.378																																						uc004dal.3		NA																	0				ovary(4)|kidney(1)|skin(1)	6						c.(2269-2271)TTA>GTA		patched domain containing 1							144.0	126.0	132.0					X																	23411904		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23411904T>G	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2269T>G	X.37:g.23411904T>G	ENSP00000368666:p.Leu757Val						p.L757V	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			3	2277	+			757			Helical; (Potential).		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.2269T>G	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539780	0.45176	.	.	ENSG00000165186	ENST00000379361	D	0.83837	-1.77	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	D	0.85522	0.5716	L	0.54323	1.7	0.44871	D	0.997883	P	0.50617	0.937	P	0.58620	0.842	D	0.85149	0.0985	10	0.48119	T	0.1	.	8.8379	0.35123	0.0:0.0855:0.0:0.9145	.	757	Q96NR3	PTHD1_HUMAN	V	757	ENSP00000368666:L757V	ENSP00000368666:L757V	L	+	1	2	PTCHD1	23321825	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.119000	0.50422	1.715000	0.51383	0.425000	0.28330	TTA		0.378	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		19	22	0	0	0	0	19	22				
OR2T1	26696	broad.mit.edu	37	1	248569358	248569361	+	Frame_Shift_Del	DEL	AATT	AATT	-	rs149888596		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr1:248569358_248569361delAATT	ENST00000366474.1	+	1	63_66	c.63_66delAATT	c.(61-66)acaattfs	p.TI21fs		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	21						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)			GCTGCCTAACAATTAATTCACATG	0.338																																						uc010pzm.1		NA																	0				pancreas(1)	1						c.(61-66)ACAATTfs		olfactory receptor, family 2, subfamily T,																																				SO:0001589	frameshift_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569358_248569361delAATT	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.63_66delAATT	1.37:g.248569362_248569365delAATT	ENSP00000355430:p.Thr21fs						p.T21fs	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	63_66	+	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)		21_22			Extracellular (Potential).		Q6IEZ9	Frame_Shift_Del	DEL	ENST00000366474.1	37	c.63_66delAATT	CCDS31115.1																																																																																				0.338	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			21	65	NA	NA	NA	NA	21	65	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51171632	51171634	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:51171632_51171634delGCC	ENST00000293441.1	-	22	3601_3603	c.3583_3585delGGC	c.(3583-3585)ggcdel	p.G1195del	SHANK1_ENST00000391813.1_In_Frame_Del_p.G582del|SHANK1_ENST00000359082.3_In_Frame_Del_p.G1186del|SYT3_ENST00000544769.1_5'UTR|SHANK1_ENST00000391814.1_In_Frame_Del_p.G1203del	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1195	Poly-Gly.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		tgggcgaggAGCCGCCGCCGCCG	0.808																																						uc002psx.1		NA																	0				large_intestine(2)	2						c.(3583-3585)GGCdel		SH3 and multiple ankyrin repeat domains 1				27,1311		6,15,648						0.9	0.7			4	98,3172		20,58,1557	no	coding	SHANK1	NM_016148.2		26,73,2205	A1A1,A1R,RR		2.9969,2.0179,2.7127				125,4483				SO:0001651	inframe_deletion	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51171632_51171634delGCC	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.3583_3585delGGC	19.37:g.51171641_51171643delGCC	ENSP00000293441:p.Gly1195del					SHANK1_uc002psw.1_In_Frame_Del_p.G579del	p.G1195del	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	22	3602_3604	-		all_neural(266;0.057)	1195			Poly-Gly.		A8MXP5|B7WNY6|Q9NYW9	In_Frame_Del	DEL	ENST00000293441.1	37	c.3583_3585delGGC	CCDS12799.1																																																																																				0.808	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		2	4	NA	NA	NA	NA	2	4	---	---	---	---
AMBN	258	broad.mit.edu	37	4	71472228	71472228	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:71472228delC	ENST00000322937.6	+	13	1228	c.1125delC	c.(1123-1125)ctcfs	p.L375fs	AMBN_ENST00000449493.2_Frame_Shift_Del_p.L360fs	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	375					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGAAGGGACTCCCCAGCGTCA	0.562																																						uc003hfl.2		NA																	0				ovary(3)|skin(1)	4						c.(1123-1125)CTCfs		ameloblastin precursor							60.0	59.0	59.0					4																	71472228		2203	4300	6503	SO:0001589	frameshift_variant	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71472228delC	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1125delC	4.37:g.71472228delC	ENSP00000313809:p.Leu375fs						p.L375fs	NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		13	1200	+			375					Q3B862|Q9H2X1|Q9H4L1	Frame_Shift_Del	DEL	ENST00000322937.6	37	c.1125delC	CCDS3543.1																																																																																				0.562	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		12	43	NA	NA	NA	NA	12	43	---	---	---	---
SEC24B	10427	broad.mit.edu	37	4	110452620	110452620	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:110452620delT	ENST00000265175.5	+	20	3387	c.3332delT	c.(3331-3333)gttfs	p.V1111fs	SEC24B_ENST00000504968.2_Frame_Shift_Del_p.V1141fs|SEC24B_ENST00000399100.2_Frame_Shift_Del_p.V1076fs	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1111					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAGCCACTTGTTCATCTAATG	0.353																																						uc003hzk.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(3331-3333)GTTfs		SEC24 (S. cerevisiae) homolog B isoform a							112.0	108.0	109.0					4																	110452620		1880	4123	6003	SO:0001589	frameshift_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110452620delT	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3332delT	4.37:g.110452620delT	ENSP00000265175:p.Val1111fs					SEC24B_uc003hzl.2_Frame_Shift_Del_p.V1076fs|SEC24B_uc011cfp.1_Frame_Shift_Del_p.V1141fs|SEC24B_uc011cfq.1_Frame_Shift_Del_p.V1110fs|SEC24B_uc011cfr.1_Frame_Shift_Del_p.V1075fs	p.V1111fs	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	20	3387	+		Hepatocellular(203;0.217)	1111					B7ZKM8|B7ZKN4|Q0VG08	Frame_Shift_Del	DEL	ENST00000265175.5	37	c.3332delT	CCDS47124.1																																																																																				0.353	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			25	63	NA	NA	NA	NA	25	63	---	---	---	---
