#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CCDC27	148870	broad.mit.edu	37	1	3677924	3677924	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:3677924C>T	ENST00000294600.2	+	5	875	c.791C>T	c.(790-792)gCc>gTc	p.A264V		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	264								p.A264V(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GAGAGGGAGGCCCTGAAGATG	0.587																																							uc001akv.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(790-792)GCC>GTC		coiled-coil domain containing 27							79.0	76.0	77.0					1																	3677924		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3677924C>T		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.791C>T	1.37:g.3677924C>T	ENSP00000294600:p.Ala264Val						p.A264V	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	5	872	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	264			Potential.		Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.791C>T	CCDS50.1	.	.	.	.	.	.	.	.	.	.	C	8.271	0.813459	0.16537	.	.	ENSG00000162592	ENST00000294600	T	0.23950	1.88	3.75	0.455	0.16649	.	0.717515	0.12093	N	0.500221	T	0.13927	0.0337	L	0.32530	0.975	0.09310	N	1	B	0.33318	0.408	B	0.28784	0.094	T	0.18116	-1.0347	10	0.33940	T	0.23	-9.0576	2.8718	0.05619	0.2171:0.5458:0.0:0.2371	.	264	Q2M243	CCD27_HUMAN	V	264	ENSP00000294600:A264V	ENSP00000294600:A264V	A	+	2	0	CCDC27	3667784	0.054000	0.20591	0.022000	0.16811	0.335000	0.28730	0.108000	0.15396	0.354000	0.24105	0.563000	0.77884	GCC		0.587	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		39	149	0	0	0	0.004878	0	39	149				
PRAMEF1	65121	broad.mit.edu	37	1	12855612	12855612	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:12855612T>A	ENST00000332296.7	+	4	995	c.892T>A	c.(892-894)Ttg>Atg	p.L298M	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.L53M	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	298					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L298M(4)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGGAGAACTTGGAATTAAC	0.463																																							uc001auj.1		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(892-894)TTG>ATG		PRAME family member 1							41.0	44.0	43.0					1																	12855612		2187	4275	6462	SO:0001583	missense	65121							g.chr1:12855612T>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.892T>A	1.37:g.12855612T>A	ENSP00000332134:p.Leu298Met						p.L298M	NM_023013	NP_075389	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	995	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	298					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.892T>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	10.75	1.438922	0.25900	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.04406	3.63;3.63	1.56	0.601	0.17529	.	0.362119	0.22643	N	0.057422	T	0.16471	0.0396	M	0.85099	2.735	0.09310	N	1	D	0.69078	0.997	D	0.70016	0.967	T	0.04946	-1.0916	10	0.87932	D	0	.	3.6665	0.08258	0.0:0.7405:0.0:0.2595	.	298	O95521	PRAM1_HUMAN	M	298;53	ENSP00000332134:L298M;ENSP00000383616:L53M	ENSP00000332134:L298M	L	+	1	2	PRAMEF1	12778199	0.003000	0.15002	0.001000	0.08648	0.025000	0.11179	0.375000	0.20518	0.209000	0.20645	0.172000	0.16884	TTG		0.463	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		36	139	0	0	0	0.01441	0	36	139				
CEP85	64793	broad.mit.edu	37	1	26603225	26603225	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:26603225A>G	ENST00000252992.4	+	13	2233	c.2102A>G	c.(2101-2103)aAt>aGt	p.N701S	CEP85_ENST00000451429.2_Missense_Mutation_p.N650S|CEP85_ENST00000469609.1_3'UTR|SH3BGRL3_ENST00000270792.5_5'Flank	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	701						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)		p.N701S(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CATGACCCCAATCTCTCCCTG	0.592																																							uc001bls.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2101-2103)AAT>AGT		coiled-coil domain containing 21							50.0	40.0	44.0					1																	26603225		2203	4300	6503	SO:0001583	missense	64793					centrosome|nucleolus|spindle pole		g.chr1:26603225A>G	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.2102A>G	1.37:g.26603225A>G	ENSP00000252992:p.Asn701Ser					SH3BGRL3_uc001blu.2_5'Flank|CCDC21_uc001blr.2_Missense_Mutation_p.N701S|CCDC21_uc010ofa.1_Missense_Mutation_p.N650S|CCDC21_uc001blt.1_Missense_Mutation_p.N133S	p.N701S	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00917)|READ - Rectum adenocarcinoma(331;0.0649)	13	2233	+		all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966)	701					B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	ENST00000252992.4	37	c.2102A>G	CCDS277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.184426|4.184426	0.78677|0.78677	.|.	.|.	ENSG00000130695|ENSG00000130695	ENST00000453146|ENST00000451429;ENST00000252992	.|T;T	.|0.10382	.|2.88;2.88	5.51|5.51	4.36|4.36	0.52297|0.52297	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33440|0.33440	0.0863|0.0863	M|M	0.80746|0.80746	2.51|2.51	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.997;0.998;0.998	T|T	0.06935|0.06935	-1.0799|-1.0799	5|10	.|0.72032	.|D	.|0.01	-7.9585|-7.9585	11.6015|11.6015	0.51006|0.51006	0.9294:0.0:0.0706:0.0|0.9294:0.0:0.0706:0.0	.|.	.|650;701;701	.|F8W7K4;Q6P2H3;Q6P2H3-2	.|.;CEP85_HUMAN;.	V|S	375|650;701	.|ENSP00000417002:N650S;ENSP00000252992:N701S	.|ENSP00000252992:N701S	I|N	+|+	1|2	0|0	CEP85|CEP85	26475812|26475812	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.885000|0.885000	0.51271|0.51271	7.163000|7.163000	0.77524|0.77524	0.912000|0.912000	0.36772|0.36772	0.454000|0.454000	0.30748|0.30748	ATC|AAT		0.592	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		13	62	0	0	0	0.013537	0	13	62				
ERMAP	114625	broad.mit.edu	37	1	43296552	43296552	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:43296552C>T	ENST00000372517.2	+	4	443	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	ERMAP_ENST00000372514.3_Missense_Mutation_p.R67W|ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000328249.3_5'UTR	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	67	Ig-like V-type.					cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R67W(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGTGGCTGCGGTCCCCATT	0.632																																							uc001cic.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(199-201)CGG>TGG		erythroblast membrane-associated protein							43.0	40.0	41.0					1																	43296552		2203	4300	6503	SO:0001583	missense	114625					integral to membrane|plasma membrane		g.chr1:43296552C>T	AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"""Blood group antigens"", ""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	15743	protein-coding gene	gene with protein product		609017	"""Radin blood group"", ""Scianna blood group"", ""erythroblast membrane-associated protein"", ""erythroblast membrane-associated protein (RD and SC blood groups)"""	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.199C>T	1.37:g.43296552C>T	ENSP00000361595:p.Arg67Trp					ERMAP_uc010ojw.1_Missense_Mutation_p.R128W|ERMAP_uc001cid.1_Intron|ERMAP_uc001cie.1_Missense_Mutation_p.R67W|ERMAP_uc001cif.1_5'UTR	p.R67W	NM_001017922	NP_001017922	Q96PL5	ERMAP_HUMAN			4	469	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	67			Ig-like V-type.|Extracellular (Potential).		D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Missense_Mutation	SNP	ENST00000372517.2	37	c.199C>T	CCDS475.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433341	0.83776	.	.	ENSG00000164010	ENST00000372517;ENST00000372514	T;T	0.70986	-0.53;-0.53	4.7	3.79	0.43588	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.335796	0.22001	N	0.066003	D	0.83640	0.5298	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.84277	0.0492	10	0.72032	D	0.01	.	8.5228	0.33287	0.0:0.8953:0.0:0.1047	.	128;67	B7Z3C6;Q96PL5	.;ERMAP_HUMAN	W	67	ENSP00000361595:R67W;ENSP00000361592:R67W	ENSP00000361592:R67W	R	+	1	2	ERMAP	43069139	1.000000	0.71417	0.651000	0.29564	0.485000	0.33311	3.632000	0.54287	1.207000	0.43291	0.460000	0.39030	CGG		0.632	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		9	38	0	0	0	0.006214	0	9	38				
ST6GALNAC3	256435	broad.mit.edu	37	1	77093218	77093218	+	Nonsense_Mutation	SNP	C	C	A	rs371361760		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:77093218C>A	ENST00000328299.3	+	4	853	c.705C>A	c.(703-705)taC>taA	p.Y235*		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	235					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TTCACGTCTACGGGATGATAA	0.408																																							uc001dhh.2		NA																	0				ovary(3)|skin(2)	5						c.(703-705)TAC>TAA		sialyltransferase 7C isoform 1							181.0	172.0	175.0					1																	77093218		2203	4300	6503	SO:0001587	stop_gained	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77093218C>A		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.705C>A	1.37:g.77093218C>A	ENSP00000329214:p.Tyr235*					ST6GALNAC3_uc010orh.1_Intron	p.Y235*	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			4	868	+			235			Lumenal (Potential).		Q6PCE0|Q6UX29|Q8N259	Nonsense_Mutation	SNP	ENST00000328299.3	37	c.705C>A	CCDS672.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396830	0.83120	.	.	ENSG00000184005	ENST00000328299;ENST00000394993	.	.	.	5.42	2.51	0.30379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4909	6.0125	0.19584	0.0:0.5909:0.0:0.4091	.	.	.	.	X	235;234	.	ENSP00000329214:Y235X	Y	+	3	2	ST6GALNAC3	76865806	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.966000	0.29331	0.779000	0.33543	0.650000	0.86243	TAC		0.408	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		3	77	1	0	0.004672	0.004672	0.00495688	3	77				
HRNR	388697	broad.mit.edu	37	1	152187481	152187481	+	Silent	SNP	A	A	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:152187481A>C	ENST00000368801.2	-	3	6699	c.6624T>G	c.(6622-6624)tcT>tcG	p.S2208S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2208					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACGGCTGGAAGAACGACCTG	0.592																																							uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(6622-6624)TCT>TCG		hornerin																																				SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187481A>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6624T>G	1.37:g.152187481A>C							p.S2208S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6700	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2208			24.		Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6624T>G	CCDS30859.1																																																																																				0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		6	446	0	0	0	0.004007	0	6	446				
OR10J1	26476	broad.mit.edu	37	1	159410483	159410483	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:159410483G>A	ENST00000423932.3	+	1	972	c.935G>A	c.(934-936)tGc>tAc	p.C312Y	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	312					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C312Y(2)|p.C312F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GATGCTCTGTGCAGGGCTGTT	0.483																																							uc010piv.1		NA																	3	Substitution - Missense(3)		lung(2)|endometrium(1)	ovary(1)	1						c.(934-936)TGC>TAC		olfactory receptor, family 10, subfamily J,							77.0	75.0	76.0					1																	159410483		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410483G>A	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.935G>A	1.37:g.159410483G>A	ENSP00000399078:p.Cys312Tyr					uc001fts.3_Intron	p.C312Y	NM_012351	NP_036483	P30954	O10J1_HUMAN			1	935	+	all_hematologic(112;0.0429)		312			Cytoplasmic (Potential).		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.935G>A	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	G	7.374	0.627461	0.14257	.	.	ENSG00000196184	ENST00000423932	T	0.36699	1.24	4.48	-8.97	0.00758	.	1.733070	0.03430	N	0.207652	T	0.07188	0.0182	L	0.28115	0.83	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12760	-1.0535	10	0.36615	T	0.2	.	6.1097	0.20094	0.3048:0.0:0.1538:0.5415	.	312	P30954	O10J1_HUMAN	Y	312	ENSP00000399078:C312Y	ENSP00000399078:C312Y	C	+	2	0	OR10J1	157677107	0.000000	0.05858	0.000000	0.03702	0.519000	0.34347	-1.819000	0.01716	-1.691000	0.01430	-1.350000	0.01237	TGC		0.483	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		19	77	0	0	0	0.007413	0	19	77				
TNN	63923	broad.mit.edu	37	1	175097855	175097855	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:175097855C>G	ENST00000239462.4	+	15	3416	c.3303C>G	c.(3301-3303)gaC>gaG	p.D1101E		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1101	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.D1101E(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGTACTGTGACATGGAAACGG	0.602																																							uc001gkl.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(3301-3303)GAC>GAG		tenascin N precursor							98.0	93.0	95.0					1																	175097855		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175097855C>G	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3303C>G	1.37:g.175097855C>G	ENSP00000239462:p.Asp1101Glu						p.D1101E	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	15	3416	+		Breast(1374;0.000962)	1101			Fibrinogen C-terminal.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3303C>G	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014675	0.54468	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	D	0.84442	-1.85	5.11	2.14	0.27477	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.89836	0.6830	M	0.73753	2.245	0.41146	D	0.985996	D	0.76494	0.999	D	0.77004	0.989	D	0.87685	0.2550	10	0.87932	D	0	.	7.5511	0.27798	0.0:0.7154:0.0:0.2846	.	1101	Q9UQP3	TENN_HUMAN	E	1101;924	ENSP00000239462:D1101E	ENSP00000239462:D1101E	D	+	3	2	TNN	173364478	1.000000	0.71417	0.993000	0.49108	0.418000	0.31294	1.076000	0.30729	0.162000	0.19483	0.462000	0.41574	GAC		0.602	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		34	187	0	0	0	0.003271	0	34	187				
PARP1	142	broad.mit.edu	37	1	226549183	226549183	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:226549183T>C	ENST00000366794.5	-	23	3166	c.3023A>G	c.(3022-3024)aAt>aGt	p.N1008S	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	1008	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.N1008S(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGTCTTAAAATTGAATTTCAG	0.478								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																															uc001hqd.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10						c.(3022-3024)AAT>AGT	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 1							74.0	66.0	68.0					1																	226549183		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226549183T>C	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.3023A>G	1.37:g.226549183T>C	ENSP00000355759:p.Asn1008Ser						p.N1008S	NM_001618	NP_001609	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	23	3194	-	Breast(184;0.133)		1008			PARP catalytic.		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.3023A>G	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.664988	0.67700	.	.	ENSG00000143799	ENST00000366794	T	0.14266	2.52	6.17	6.17	0.99709	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	L	0.48642	1.525	0.80722	D	1	B	0.22541	0.071	B	0.09377	0.004	T	0.01316	-1.1387	10	0.48119	T	0.1	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1008	P09874	PARP1_HUMAN	S	1008	ENSP00000355759:N1008S	ENSP00000355759:N1008S	N	-	2	0	PARP1	224615806	1.000000	0.71417	0.967000	0.41034	0.993000	0.82548	7.988000	0.88194	2.371000	0.80710	0.533000	0.62120	AAT		0.478	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		16	44	0	0	0	0.00499	0	16	44				
RYR2	6262	broad.mit.edu	37	1	237819148	237819148	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:237819148G>C	ENST00000366574.2	+	53	8310	c.7993G>C	c.(7993-7995)Gca>Cca	p.A2665P	RYR2_ENST00000542537.1_Missense_Mutation_p.A2649P|RYR2_ENST00000360064.6_Missense_Mutation_p.A2663P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2665	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A2663P(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTCAAACTGGCACTGCCTTG	0.408																																							uc001hyl.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7993-7995)GCA>CCA		cardiac muscle ryanodine receptor							41.0	39.0	40.0					1																	237819148		1830	4092	5922	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237819148G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7993G>C	1.37:g.237819148G>C	ENSP00000355533:p.Ala2665Pro						p.A2665P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		53	8113	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2665			Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7993G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122849	0.94429	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96913	-4.17;-4.17;-4.17	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000010	D	0.98254	0.9422	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.98579	1.0649	10	0.87932	D	0	-13.4046	20.3789	0.98926	0.0:0.0:1.0:0.0	.	2665	Q92736	RYR2_HUMAN	P	2665;2663;2649	ENSP00000355533:A2665P;ENSP00000353174:A2663P;ENSP00000443798:A2649P	ENSP00000353174:A2663P	A	+	1	0	RYR2	235885771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.865000	0.99609	2.826000	0.97356	0.563000	0.77884	GCA		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	8	0	0	0	0.000602	0	5	8				
GAD2	2572	broad.mit.edu	37	10	26570005	26570005	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr10:26570005G>C	ENST00000376261.3	+	12	1728	c.1225G>C	c.(1225-1227)Gtt>Ctt	p.V409L	GAD2_ENST00000259271.3_Missense_Mutation_p.V409L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	409					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.V409L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGCTCTCCTGGTTAGAGAAGA	0.488																																							uc001isp.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(1225-1227)GTT>CTT		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						175.0	152.0	160.0					10																	26570005		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26570005G>C	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1225G>C	10.37:g.26570005G>C	ENSP00000365437:p.Val409Leu					GAD2_uc001isq.2_Missense_Mutation_p.V409L	p.V409L	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			12	1728	+			409					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.1225G>C	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308300	0.60305	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.41758	0.99;0.99	4.77	4.77	0.60923	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	N	0.17872	0.535	0.80722	D	1	B	0.14012	0.009	B	0.17722	0.019	T	0.06607	-1.0817	10	0.21540	T	0.41	-18.9111	18.1644	0.89721	0.0:0.0:1.0:0.0	.	409	Q05329	DCE2_HUMAN	L	409	ENSP00000365437:V409L;ENSP00000259271:V409L	ENSP00000259271:V409L	V	+	1	0	GAD2	26610011	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.590000	0.82653	2.350000	0.79820	0.655000	0.94253	GTT		0.488	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		28	132	0	0	0	0.008361	0	28	132				
COL17A1	1308	broad.mit.edu	37	10	105833976	105833976	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr10:105833976G>A	ENST00000353479.5	-	6	635	c.345C>T	c.(343-345)ggC>ggT	p.G115G	COL17A1_ENST00000393211.3_Silent_p.G115G|COL17A1_ENST00000369733.3_Silent_p.G115G	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	115	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.G115G(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAGAAGAGTTGCCACTGGAGC	0.478																																							uc001kxr.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(343-345)GGC>GGT		alpha 1 type XVII collagen							69.0	75.0	73.0					10																	105833976		2203	4300	6503	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105833976G>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.345C>T	10.37:g.105833976G>A						COL17A1_uc010qqv.1_Intron|COL17A1_uc009xxp.1_Silent_p.G115G	p.G115G	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	6	514	-		Colorectal(252;0.103)|Breast(234;0.122)	115			Cytoplasmic (Potential).|Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.345C>T	CCDS7554.1																																																																																				0.478	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		36	177	0	0	0	0.00874	0	36	177				
CHST1	8534	broad.mit.edu	37	11	45671907	45671907	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:45671907G>T	ENST00000308064.2	-	4	1237	c.567C>A	c.(565-567)aaC>aaA	p.N189K	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	189					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)	p.N189K(2)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CCACGGTCAGGTTGAGTAGCC	0.721																																							uc001mys.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(4)|pancreas(1)	5						c.(565-567)AAC>AAA		carbohydrate (keratan sulfate Gal-6)							25.0	25.0	25.0					11																	45671907		2202	4295	6497	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671907G>T	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.567C>A	11.37:g.45671907G>T	ENSP00000309270:p.Asn189Lys						p.N189K	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1238	-			189			Lumenal (Potential).		D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.567C>A	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	g	14.21	2.467417	0.43839	.	.	ENSG00000175264	ENST00000308064	D	0.96300	-3.97	4.98	4.08	0.47627	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.97986	0.9337	M	0.86651	2.83	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97588	1.0115	10	0.33940	T	0.23	-17.4228	13.5667	0.61822	0.0755:0.0:0.9245:0.0	.	189	O43916	CHST1_HUMAN	K	189	ENSP00000309270:N189K	ENSP00000309270:N189K	N	-	3	2	CHST1	45628483	0.998000	0.40836	0.990000	0.47175	0.288000	0.27193	1.939000	0.40213	1.110000	0.41699	-0.355000	0.07637	AAC		0.721	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		13	62	1	0	7.93312e-07	0.00245	9.39022e-07	13	62				
OR5D14	219436	broad.mit.edu	37	11	55563901	55563901	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:55563901G>T	ENST00000335605.1	+	1	870	c.870G>T	c.(868-870)ctG>ctT	p.L290L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	290			L -> P (in dbSNP:rs297055).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L290L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGAACCCTCTGATCTACAGCC	0.408																																							uc010rim.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(868-870)CTG>CTT		olfactory receptor, family 5, subfamily D,							53.0	53.0	53.0					11																	55563901		2200	4296	6496	SO:0001819	synonymous_variant	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563901G>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.870G>T	11.37:g.55563901G>T							p.L290L	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	870	+		all_epithelial(135;0.196)	290			Helical; Name=7; (Potential).		Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	ENST00000335605.1	37	c.870G>T	CCDS31508.1																																																																																				0.408	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		8	25	1	0	0.000442599	0.006214	0.000478337	8	25				
AHNAK	79026	broad.mit.edu	37	11	62293403	62293403	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:62293403T>A	ENST00000378024.4	-	5	8760	c.8486A>T	c.(8485-8487)cAt>cTt	p.H2829L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2829					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.H2829L(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGTCTTAAAATGCATCTCTGG	0.428																																							uc001ntl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(8485-8487)CAT>CTT		AHNAK nucleoprotein isoform 1							162.0	162.0	162.0					11																	62293403		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62293403T>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8486A>T	11.37:g.62293403T>A	ENSP00000367263:p.His2829Leu					AHNAK_uc001ntk.1_Intron	p.H2829L	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	8786	-		Melanoma(852;0.155)	2829					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.8486A>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	11.75	1.732789	0.30684	.	.	ENSG00000124942	ENST00000378024	T	0.01172	5.23	3.48	2.26	0.28386	.	.	.	.	.	T	0.02767	0.0083	M	0.91920	3.255	0.22684	N	0.998853	B	0.30281	0.275	B	0.26614	0.071	T	0.27331	-1.0077	9	0.31617	T	0.26	-1.0107	8.638	0.33959	0.0:0.099:0.0:0.901	.	2829	Q09666	AHNK_HUMAN	L	2829	ENSP00000367263:H2829L	ENSP00000367263:H2829L	H	-	2	0	AHNAK	62049979	0.962000	0.33011	0.006000	0.13384	0.919000	0.55068	3.175000	0.50855	0.294000	0.22547	0.370000	0.22315	CAT		0.428	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		70	169	0	0	0	0.01441	0	70	169				
VPS51	738	broad.mit.edu	37	11	64879032	64879032	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:64879032G>A	ENST00000279281.3	+	10	2414	c.2322G>A	c.(2320-2322)gtG>gtA	p.V774V	TM7SF2_ENST00000345348.5_5'Flank|TM7SF2_ENST00000279263.7_5'Flank|TM7SF2_ENST00000540748.1_5'Flank|AP003068.9_ENST00000528887.1_RNA|VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	774					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.V774V(2)									AGCCCAGTGTGGTTGAGGTCA	0.652																																							uc001ocr.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(2320-2322)GTG>GTA		chromosome 11 open reading frame 2							62.0	49.0	54.0					11																	64879032		2201	4297	6498	SO:0001819	synonymous_variant	738				lipid transport|protein transport	Golgi apparatus|integral to membrane		g.chr11:64879032G>A	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.2322G>A	11.37:g.64879032G>A						TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Silent_p.V650V	p.V774V	NM_013265	NP_037397	Q9UID3	FFR_HUMAN			10	2362	+			774					Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Silent	SNP	ENST00000279281.3	37	c.2322G>A	CCDS8093.1																																																																																				0.652	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		19	52	0	0	0	0.008871	0	19	52				
TM7SF2	7108	broad.mit.edu	37	11	64882511	64882512	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:64882511_64882512CC>AA	ENST00000279263.7	+	7	1012_1013	c.850_851CC>AA	c.(850-852)CCc>AAc	p.P284N	TM7SF2_ENST00000345348.5_Missense_Mutation_p.P284N|TM7SF2_ENST00000540748.1_Missense_Mutation_p.P168N|AP003068.12_ENST00000527789.1_RNA	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	284					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)	p.P284N(2)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCACCCGCAGCCCCTGGGGTTG	0.614																																							uc001oct.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(850-852)CCC>AAC		transmembrane 7 superfamily member 2																																				SO:0001583	missense	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64882511_64882512CC>AA	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	Exception_encountered	11.37:g.64882511_64882512delinsAA	ENSP00000279263:p.Pro284Asn					TM7SF2_uc010rny.1_Missense_Mutation_p.P168N|TM7SF2_uc001ocu.2_Missense_Mutation_p.P284N|TM7SF2_uc001ocv.2_Missense_Mutation_p.P305N|uc009yqb.1_5'Flank	p.P284N	NM_003273	NP_003264	O76062	ERG24_HUMAN			7	997_998	+			284					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	DNP	ENST00000279263.7	37	c.850_851CC>AA	CCDS41669.1																																																																																				0.614	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		19	208	0	0	0	0.004672	0	19	208				
TM7SF2	7108	broad.mit.edu	37	11	64882533	64882533	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:64882533C>T	ENST00000279263.7	+	7	1034	c.872C>T	c.(871-873)tCt>tTt	p.S291F	TM7SF2_ENST00000345348.5_Missense_Mutation_p.S291F|TM7SF2_ENST00000540748.1_Missense_Mutation_p.S175F|AP003068.12_ENST00000527789.1_RNA	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	291					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)	p.S291F(2)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCATGGCCTCTGTCATCTGC	0.612																																							uc001oct.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(871-873)TCT>TTT		transmembrane 7 superfamily member 2							60.0	63.0	62.0					11																	64882533		2002	4171	6173	SO:0001583	missense	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64882533C>T	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.872C>T	11.37:g.64882533C>T	ENSP00000279263:p.Ser291Phe					TM7SF2_uc010rny.1_Missense_Mutation_p.S175F|TM7SF2_uc001ocu.2_Missense_Mutation_p.S291F|TM7SF2_uc001ocv.2_Missense_Mutation_p.S312F|uc009yqb.1_5'Flank	p.S291F	NM_003273	NP_003264	O76062	ERG24_HUMAN			7	1019	+			291			Helical; (Potential).		A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP	ENST00000279263.7	37	c.872C>T	CCDS41669.1	.	.	.	.	.	.	.	.	.	.	C	4.168	0.029632	0.08054	.	.	ENSG00000149809	ENST00000526809;ENST00000279263;ENST00000534371;ENST00000540748;ENST00000525385;ENST00000345348;ENST00000531321;ENST00000526085;ENST00000527968	D;D;D;D;D;D;D;D;D	0.98221	-4.61;-4.61;-4.61;-4.61;-4.61;-4.8;-4.61;-4.8;-4.61	5.13	-0.318	0.12728	.	1.102150	0.06987	N	0.820968	D	0.96870	0.8978	L	0.58302	1.8	0.09310	N	1	B;P;P	0.44816	0.323;0.812;0.844	B;B;P	0.46389	0.272;0.275;0.515	D	0.92010	0.5617	10	0.66056	D	0.02	-22.3235	4.6014	0.12356	0.0:0.288:0.3279:0.3841	.	175;291;291	F5GYV3;O76062-2;O76062	.;.;ERG24_HUMAN	F	173;291;223;175;262;291;197;142;123	ENSP00000432171:S173F;ENSP00000279263:S291F;ENSP00000432187:S223F;ENSP00000441215:S175F;ENSP00000433325:S262F;ENSP00000329520:S291F;ENSP00000431300:S197F;ENSP00000434447:S142F;ENSP00000431685:S123F	ENSP00000279263:S291F	S	+	2	0	TM7SF2	64639109	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.246000	0.08878	0.097000	0.17492	0.561000	0.74099	TCT		0.612	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		40	177	0	0	0	0.009718	0	40	177				
MAP3K11	4296	broad.mit.edu	37	11	65375459	65375459	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:65375459C>T	ENST00000530153.1	-	3	753	c.232G>A	c.(232-234)Gct>Act	p.A78T	MAP3K11_ENST00000532507.1_5'Flank|MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000309100.3_Missense_Mutation_p.A335T					mitogen-activated protein kinase kinase kinase 11									p.A335T(2)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						TTGTTAACAGCTACGCCATAG	0.607																																							uc001oew.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1003-1005)GCT>ACT		mitogen-activated protein kinase kinase kinase							105.0	77.0	87.0					11																	65375459		2201	4297	6498	SO:0001583	missense	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65375459C>T		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.232G>A	11.37:g.65375459C>T	ENSP00000433886:p.Ala78Thr					MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Missense_Mutation_p.A78T|MAP3K11_uc001oex.1_5'UTR	p.A335T	NM_002419	NP_002410	Q16584	M3K11_HUMAN			3	1496	-			335			Protein kinase.			Missense_Mutation	SNP	ENST00000530153.1	37	c.1003G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.410388	0.96072	.	.	ENSG00000173327	ENST00000309100;ENST00000530153;ENST00000526293;ENST00000529839	D;D;D;D	0.93366	-3.21;-2.48;-2.48;-2.48	4.66	4.66	0.58398	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93383	0.7890	N	0.20328	0.56	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.94485	0.7696	10	0.87932	D	0	.	15.083	0.72130	0.0:1.0:0.0:0.0	.	335	Q16584	M3K11_HUMAN	T	335;78;85;78	ENSP00000309597:A335T;ENSP00000433886:A78T;ENSP00000435970:A85T;ENSP00000435237:A78T	ENSP00000309597:A335T	A	-	1	0	MAP3K11	65132035	1.000000	0.71417	0.988000	0.46212	0.985000	0.73830	7.604000	0.82830	2.431000	0.82371	0.491000	0.48974	GCT		0.607	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2			31	114	0	0	0	0.009535	0	31	114				
LRRC32	2615	broad.mit.edu	37	11	76371718	76371718	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:76371718C>T	ENST00000407242.2	-	3	1161	c.919G>A	c.(919-921)Ggg>Agg	p.G307R	LRRC32_ENST00000260061.5_Missense_Mutation_p.G307R|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.G307R|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	307					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)		p.G307R(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CTGGCATTCCCGCTGGGGGCT	0.622																																							uc001oxq.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(919-921)GGG>AGG		leucine rich repeat containing 32 precursor							20.0	25.0	23.0					11																	76371718		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371718C>T	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.919G>A	11.37:g.76371718C>T	ENSP00000384126:p.Gly307Arg					LRRC32_uc001oxr.3_Missense_Mutation_p.G307R|LRRC32_uc010rsf.1_Missense_Mutation_p.G307R	p.G307R	NM_005512	NP_005503	Q14392	LRC32_HUMAN			3	1162	-			307			Extracellular (Potential).		Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.919G>A	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.209602	0.00024	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.38560	1.13;1.13;1.13	4.55	-2.44	0.06502	.	1.092310	0.06975	N	0.818790	T	0.18509	0.0444	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.19910	-1.0291	10	0.15952	T	0.53	.	0.6875	0.00885	0.3405:0.2568:0.2417:0.161	.	307	Q14392	LRC32_HUMAN	R	307	ENSP00000260061:G307R;ENSP00000384126:G307R;ENSP00000385766:G307R	ENSP00000260061:G307R	G	-	1	0	LRRC32	76049366	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-0.024000	0.12435	-0.240000	0.09696	-1.439000	0.01073	GGG		0.622	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		21	52	0	0	0	0.014323	0	21	52				
CAPN5	726	broad.mit.edu	37	11	76825355	76825355	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:76825355G>A	ENST00000278559.3	+	5	763	c.574G>A	c.(574-576)Ggt>Agt	p.G192S	CAPN5_ENST00000456580.2_Missense_Mutation_p.G232S|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.G192S	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	192	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.G192S(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CTTCACGGGTGGTGTTTCTGA	0.567											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001oxx.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(574-576)GGT>AGT		calpain 5							266.0	245.0	252.0					11																	76825355		2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76825355G>A		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.574G>A	11.37:g.76825355G>A	ENSP00000278559:p.Gly192Ser		OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1171	CAPN5_uc009yup.2_Missense_Mutation_p.G232S|CAPN5_uc009yuq.2_Missense_Mutation_p.G228S|CAPN5_uc001oxy.2_Missense_Mutation_p.G232S	p.G192S	NM_004055	NP_004046	O15484	CAN5_HUMAN			5	759	+			192			Calpain catalytic.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.574G>A	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692961	0.88735	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.90004	-2.6;-2.6;-2.6	4.72	4.72	0.59763	Peptidase C2, calpain, catalytic domain (3);	0.053045	0.85682	D	0.000000	D	0.95570	0.8560	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;0.999;0.987	D;D;D;D	0.87578	0.956;0.998;0.994;0.922	D	0.96448	0.9332	10	0.72032	D	0.01	.	16.8563	0.86007	0.0:0.0:1.0:0.0	.	230;232;232;192	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	S	192;232;192;232;232	ENSP00000278559:G192S;ENSP00000432332:G192S;ENSP00000409996:G232S	ENSP00000278559:G192S	G	+	1	0	CAPN5	76503003	1.000000	0.71417	0.673000	0.29887	0.592000	0.36648	9.657000	0.98554	2.438000	0.82558	0.655000	0.94253	GGT		0.567	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		161	527	0	0	0	0.01441	0	161	527				
CAPN5	726	broad.mit.edu	37	11	76826513	76826513	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:76826513G>A	ENST00000278559.3	+	6	961	c.772G>A	c.(772-774)Gat>Aat	p.D258N	CAPN5_ENST00000456580.2_Missense_Mutation_p.D298N|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.D258N	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	258	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.D258N(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGCCGTCACTGATGTGCGCAA	0.642																																							uc001oxx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(772-774)GAT>AAT		calpain 5							44.0	41.0	42.0					11																	76826513		2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76826513G>A		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.772G>A	11.37:g.76826513G>A	ENSP00000278559:p.Asp258Asn					CAPN5_uc009yup.2_Missense_Mutation_p.D298N|CAPN5_uc009yuq.2_Missense_Mutation_p.D294N|CAPN5_uc001oxy.2_Missense_Mutation_p.D298N	p.D258N	NM_004055	NP_004046	O15484	CAN5_HUMAN			6	957	+			258			Calpain catalytic.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.772G>A	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229410	0.95173	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	T;T;T	0.17213	2.29;2.29;2.29	5.11	5.11	0.69529	Peptidase C2, calpain, catalytic domain (3);	0.052187	0.85682	D	0.000000	T	0.40956	0.1138	M	0.74467	2.265	0.80722	D	1	D;D;D;D	0.89917	1.0;0.992;0.971;0.999	D;P;P;D	0.75020	0.985;0.857;0.893;0.972	T	0.17167	-1.0378	10	0.18710	T	0.47	.	17.5326	0.87819	0.0:0.0:1.0:0.0	.	296;298;298;258	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	N	258;298;258;298;298	ENSP00000278559:D258N;ENSP00000432332:D258N;ENSP00000409996:D298N	ENSP00000278559:D258N	D	+	1	0	CAPN5	76504161	1.000000	0.71417	0.989000	0.46669	0.935000	0.57460	7.861000	0.87004	2.368000	0.80403	0.561000	0.74099	GAT		0.642	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		19	53	0	0	0	0.007413	0	19	53				
CAPN5	726	broad.mit.edu	37	11	76826613	76826613	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:76826613G>A	ENST00000278559.3	+	6	1061	c.872G>A	c.(871-873)tGg>tAg	p.W291*	CAPN5_ENST00000456580.2_Nonsense_Mutation_p.W331*|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Nonsense_Mutation_p.W291*	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	291	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.W291*(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GAGCGGGAGTGGAACGGGCCC	0.652																																							uc001oxx.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(871-873)TGG>TAG		calpain 5							31.0	32.0	32.0					11																	76826613		2200	4292	6492	SO:0001587	stop_gained	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76826613G>A		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.872G>A	11.37:g.76826613G>A	ENSP00000278559:p.Trp291*					CAPN5_uc009yup.2_Nonsense_Mutation_p.W331*|CAPN5_uc009yuq.2_Nonsense_Mutation_p.W327*|CAPN5_uc001oxy.2_Nonsense_Mutation_p.W331*	p.W291*	NM_004055	NP_004046	O15484	CAN5_HUMAN			6	1057	+			291			Calpain catalytic.		O00263	Nonsense_Mutation	SNP	ENST00000278559.3	37	c.872G>A	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	g	39	7.795120	0.98495	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8403	0.88713	0.0:0.0:1.0:0.0	.	.	.	.	X	291;331;291;331;331	.	ENSP00000278559:W291X	W	+	2	0	CAPN5	76504261	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.805000	0.99149	2.445000	0.82738	0.556000	0.70494	TGG		0.652	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		7	30	0	0	0	0.004482	0	7	30				
CAPN5	726	broad.mit.edu	37	11	76826625	76826625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:76826625G>A	ENST00000278559.3	+	6	1073	c.884G>A	c.(883-885)tGg>tAg	p.W295*	CAPN5_ENST00000456580.2_Nonsense_Mutation_p.W335*|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Nonsense_Mutation_p.W295*	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	295	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.W295*(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						AACGGGCCCTGGAGTGACACG	0.662																																							uc001oxx.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(883-885)TGG>TAG		calpain 5							26.0	27.0	27.0					11																	76826625		2200	4290	6490	SO:0001587	stop_gained	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76826625G>A		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.884G>A	11.37:g.76826625G>A	ENSP00000278559:p.Trp295*					CAPN5_uc009yup.2_Nonsense_Mutation_p.W335*|CAPN5_uc009yuq.2_Nonsense_Mutation_p.W331*|CAPN5_uc001oxy.2_Nonsense_Mutation_p.W335*	p.W295*	NM_004055	NP_004046	O15484	CAN5_HUMAN			6	1069	+			295			Calpain catalytic.		O00263	Nonsense_Mutation	SNP	ENST00000278559.3	37	c.884G>A	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	g	39	7.827842	0.98513	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8403	0.88713	0.0:0.0:1.0:0.0	.	.	.	.	X	295;335;295;335;335	.	ENSP00000278559:W295X	W	+	2	0	CAPN5	76504273	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.805000	0.99149	2.445000	0.82738	0.556000	0.70494	TGG		0.662	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		5	26	0	0	0	0.001168	0	5	26				
CAPN5	726	broad.mit.edu	37	11	76829344	76829344	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:76829344G>C	ENST00000278559.3	+	8	1302	c.1113G>C	c.(1111-1113)caG>caC	p.Q371H	CAPN5_ENST00000456580.2_Missense_Mutation_p.Q411H|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.Q371H	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	371	Domain III.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.Q371H(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						ACCCGCGACAGAACCGCGGTG	0.642																																							uc001oxx.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1111-1113)CAG>CAC		calpain 5							67.0	60.0	62.0					11																	76829344		2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76829344G>C		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.1113G>C	11.37:g.76829344G>C	ENSP00000278559:p.Gln371His					CAPN5_uc009yup.2_Missense_Mutation_p.Q411H|CAPN5_uc009yuq.2_Missense_Mutation_p.Q407H|CAPN5_uc001oxy.2_Missense_Mutation_p.Q411H|CAPN5_uc001oya.2_5'Flank	p.Q371H	NM_004055	NP_004046	O15484	CAN5_HUMAN			8	1298	+			371			Domain III.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.1113G>C	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832756	0.32421	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.86865	-2.18;-2.18;-2.18	5.21	-0.222	0.13122	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.660669	0.15722	N	0.247841	T	0.81422	0.4819	N	0.21448	0.665	0.22199	N	0.999298	P;B;B;B	0.43477	0.808;0.003;0.001;0.347	P;B;B;P	0.51229	0.663;0.009;0.015;0.454	T	0.71500	-0.4574	10	0.32370	T	0.25	.	7.1354	0.25525	0.2023:0.3388:0.4588:0.0	.	409;411;411;371	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	H	371;411;371;411;411	ENSP00000278559:Q371H;ENSP00000432332:Q371H;ENSP00000409996:Q411H	ENSP00000278559:Q371H	Q	+	3	2	CAPN5	76506992	0.003000	0.15002	0.042000	0.18584	0.774000	0.43823	-0.024000	0.12435	-0.309000	0.08779	0.561000	0.74099	CAG		0.642	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		13	51	0	0	0	0.00245	0	13	51				
CAPN5	726	broad.mit.edu	37	11	76830106	76830106	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:76830106G>A	ENST00000278559.3	+	9	1387	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	CAPN5_ENST00000456580.2_Missense_Mutation_p.E440K|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.E400K	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	400	Domain III.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.E400K(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GCCAGAAGATGAAGTCCTGAT	0.577																																							uc001oxx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1198-1200)GAA>AAA		calpain 5							80.0	65.0	70.0					11																	76830106		2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76830106G>A		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.1198G>A	11.37:g.76830106G>A	ENSP00000278559:p.Glu400Lys					CAPN5_uc009yup.2_Missense_Mutation_p.E440K|CAPN5_uc009yuq.2_Missense_Mutation_p.E436K|CAPN5_uc001oxy.2_Missense_Mutation_p.E440K|CAPN5_uc001oya.2_5'Flank	p.E400K	NM_004055	NP_004046	O15484	CAN5_HUMAN			9	1383	+			400			Domain III.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.1198G>A	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984495	0.74474	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	T;T;T	0.44881	0.91;0.91;0.91	5.22	5.22	0.72569	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.049926	0.85682	D	0.000000	T	0.57621	0.2066	L	0.61036	1.89	0.80722	D	1	D;B;B;D	0.61080	0.989;0.372;0.205;0.982	P;B;B;P	0.61722	0.893;0.309;0.215;0.866	T	0.49688	-0.8913	10	0.16420	T	0.52	.	18.1321	0.89605	0.0:0.0:1.0:0.0	.	438;440;440;400	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	K	400;440;400;440;440	ENSP00000278559:E400K;ENSP00000432332:E400K;ENSP00000409996:E440K	ENSP00000278559:E400K	E	+	1	0	CAPN5	76507754	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	5.426000	0.66476	2.603000	0.88011	0.655000	0.94253	GAA		0.577	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		14	36	0	0	0	0.006122	0	14	36				
SLC36A4	120103	broad.mit.edu	37	11	92918921	92918921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:92918921C>A	ENST00000326402.4	-	2	245	c.115G>T	c.(115-117)Gaa>Taa	p.E39*	SLC36A4_ENST00000529184.1_5'UTR	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	39					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.E39*(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGCTCATGTTCTTCATCTGAT	0.348																																							uc001pdn.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(115-117)GAA>TAA		solute carrier family 36 (proton/amino acid							126.0	117.0	120.0					11																	92918921		2201	4298	6499	SO:0001587	stop_gained	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92918921C>A	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.115G>T	11.37:g.92918921C>A	ENSP00000317382:p.Glu39*					SLC36A4_uc001pdm.2_5'UTR	p.E39*	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN			2	212	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	39					Q86X30|Q8IVM5|Q8N8S6	Nonsense_Mutation	SNP	ENST00000326402.4	37	c.115G>T	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667051	0.96745	.	.	ENSG00000180773	ENST00000326402	.	.	.	5.73	5.73	0.89815	.	0.074368	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-17.3495	17.6765	0.88232	0.0:1.0:0.0:0.0	.	.	.	.	X	39	.	ENSP00000317382:E39X	E	-	1	0	SLC36A4	92558569	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	3.775000	0.55349	2.712000	0.92718	0.650000	0.86243	GAA		0.348	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			8	17	1	0	0.000157383	0.00308	0.000172231	8	17				
PCSK7	9159	broad.mit.edu	37	11	117098010	117098010	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:117098010G>C	ENST00000320934.3	-	5	1262	c.632C>G	c.(631-633)tCt>tGt	p.S211C		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	211	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.S211C(2)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		AGGGTCATTAGAGTTGAGGTC	0.557			T	IGH@	MLCLS																																		uc001pqr.2		NA		Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		2	Substitution - Missense(2)		lung(2)		0						c.(631-633)TCT>TGT		proprotein convertase subtilisin/kexin type 7							103.0	104.0	104.0					11																	117098010		2201	4296	6497	SO:0001583	missense	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117098010G>C	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.632C>G	11.37:g.117098010G>C	ENSP00000325917:p.Ser211Cys						p.S211C	NM_004716	NP_004707	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	5	833	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	211			Catalytic.|Extracellular (Potential).		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.632C>G	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395704	0.83011	.	.	ENSG00000160613	ENST00000320934;ENST00000543900;ENST00000525027	D;D	0.88354	-2.37;-2.37	5.61	5.61	0.85477	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.95082	0.8407	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.95042	0.8179	10	0.56958	D	0.05	-14.3311	18.6171	0.91306	0.0:0.0:1.0:0.0	.	211	Q16549	PCSK7_HUMAN	C	211	ENSP00000325917:S211C;ENSP00000431181:S211C	ENSP00000325917:S211C	S	-	2	0	PCSK7	116603220	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	6.631000	0.74277	2.633000	0.89246	0.655000	0.94253	TCT		0.557	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		45	201	0	0	0	0.01441	0	45	201				
IGSF9B	22997	broad.mit.edu	37	11	133789732	133789732	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:133789732G>A	ENST00000321016.8	-	18	4118	c.3888C>T	c.(3886-3888)gaC>gaT	p.D1296D	IGSF9B_ENST00000533871.2_Silent_p.D1296D			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1296	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.D1296D(1)|p.D752D(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CGTCCAAGCTGTCCCCAGGCC	0.677																																							uc001qgx.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(3886-3888)GAC>GAT		immunoglobulin superfamily, member 9B							21.0	27.0	25.0					11																	133789732		1940	4117	6057	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133789732G>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3888C>T	11.37:g.133789732G>A							p.D1296D	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	4119	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1296			Pro-rich.|Cytoplasmic (Potential).		G5EA26	Silent	SNP	ENST00000321016.8	37	c.3888C>T																																																																																					0.677	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		10	45	0	0	0	0.013537	0	10	45				
PZP	5858	broad.mit.edu	37	12	9303303	9303303	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:9303303G>T	ENST00000261336.2	-	34	4349	c.4321C>A	c.(4321-4323)Caa>Aaa	p.Q1441K	PZP_ENST00000381997.2_Missense_Mutation_p.Q1227K	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1441					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q1441K(2)|p.Q1227K(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGGATGTCTTGCAGAACCATG	0.403																																					Melanoma(125;1402 1695 4685 34487 38571)	Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(4321-4323)CAA>AAA		pregnancy-zone protein precursor							123.0	117.0	119.0					12																	9303303		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9303303G>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4321C>A	12.37:g.9303303G>T	ENSP00000261336:p.Gln1441Lys					PZP_uc009zgl.2_Missense_Mutation_p.Q1227K	p.Q1441K	NM_002864	NP_002855					34	4350	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.4321C>A	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865153	0.32977	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.34072	1.38;1.38	4.18	3.23	0.37069	Alpha-macroglobulin, receptor-binding (3);	0.087525	0.45126	U	0.000383	T	0.62454	0.2429	M	0.86502	2.82	0.23751	N	0.99694	P;D	0.89917	0.953;1.0	P;D	0.74674	0.454;0.984	T	0.58730	-0.7585	10	0.72032	D	0.01	.	12.8826	0.58026	0.0:0.1663:0.8336:0.0	.	1227;1441	P20742-2;P20742	.;PZP_HUMAN	K	1441;1227	ENSP00000261336:Q1441K;ENSP00000371427:Q1227K	ENSP00000261336:Q1441K	Q	-	1	0	PZP	9194570	0.973000	0.33851	0.154000	0.22540	0.178000	0.23041	1.952000	0.40343	0.968000	0.38212	0.563000	0.77884	CAA		0.403	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		7	30	1	0	0.000274275	0.004482	0.000298274	7	30				
DDX12P	440081	broad.mit.edu	37	12	9583286	9583286	+	IGR	SNP	A	A	G	rs2429895	byFrequency	TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:9583286A>G								RP13-735L24.1 (33073 upstream) : SNORA75 (14367 downstream)														p.A380A(3)									GGATGCCCGCAGCCTGCCGAG	0.672													G|||	339	0.0676917	0.1097	0.0778	5008	,	,		14622	0.0119		0.0586	False		,,,				2504	0.0706						uc010sgs.1		NA																	3	Substitution - coding silent(3)		prostate(2)|endometrium(1)		0						c.(1138-1140)GCT>GCC		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12							11.0	13.0	12.0					12																	9583286		672	1577	2249	SO:0001628	intergenic_variant	440081							g.chr12:9583286A>G																													12.37:g.9583286A>G							p.A380A	NM_004400	NP_004391					10	1335	-									Silent	SNP		37	c.1140T>C																																																																																				0	0.672									3	14	0	0	0	0.001168	0	3	14				
KRAS	3845	broad.mit.edu	37	12	25398284	25398285	+	Missense_Mutation	DNP	CC	CC	AA	rs121913530|rs121913529		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:25398284_25398285CC>AA	ENST00000256078.4	-	2	97_98	c.34_35GG>TT	c.(34-36)GGt>TTt	p.G12F	KRAS_ENST00000556131.1_Missense_Mutation_p.G12F|KRAS_ENST00000311936.3_Missense_Mutation_p.G12F|KRAS_ENST00000557334.1_Missense_Mutation_p.G12F	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12C(3001)|p.G12A(1407)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAACT	0.347	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12C(CALU1_LUNG)|G12V(PATU8988S_PANCREAS)|G12C(NCIH1792_LUNG)|G12D(SU8686_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12D(LS513_LARGE_INTESTINE)|G12D(PANC0203_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12C(HCC44_LUNG)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEC50B_ENDOMETRIUM)|G12V(NCIH2444_LUNG)|G12D(MCAS_OVARY)|G12D(ASPC1_PANCREAS)|G12V(SHP77_LUNG)|G12R(CAL62_THYROID)|G12D(HPAFII_PANCREAS)|G12A(NCIH2009_LUNG)|G12D(PANC0403_PANCREAS)|G12C(NCIH2030_LUNG)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(PANC0327_PANCREAS)|G12D(PANC0813_PANCREAS)|G12V(COLO668_LUNG)|G12V(NCIH441_LUNG)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12V(CAPAN2_PANCREAS)|G12R(HUPT3_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12R(HS274T_BREAST)|G12V(SW480_LARGE_INTESTINE)|G12V(QGP1_PANCREAS)|G12S(LS123_LARGE_INTESTINE)|G12C(SW837_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(RKN_OVARY)|G12C(IALM_LUNG)|G12C(UMUC3_URINARY_TRACT)|G12V(RERFLCAD2_LUNG)|G12C(LU99_LUNG)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12V(SH10TC_STOMACH)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12D(COLO678_LARGE_INTESTINE)|G12S(A549_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(RERFLCAD1_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH1373_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12C(MIAPACA2_PANCREAS)|G12V(DANG_PANCREAS)|G12D(L33_PANCREAS)|G12C(OV56_OVARY)|G12V(PATU8902_PANCREAS)|G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12R(KP2_PANCREAS)|G12D(SUIT2_PANCREAS)|G12C(NCIH2122_LUNG)|G12D(KP4_PANCREAS)|G12C(NCIH358_LUNG)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12C(SW1463_LARGE_INTESTINE)|G12V(RCM1_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12D(PANC1_PANCREAS)|G12C(SW1573_LUNG)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		20892	Substitution - Missense(20889)|Insertion - In frame(2)|Deletion - Frameshift(1)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(11786)|pancreas(3650)|lung(3132)|ovary(556)|biliary_tract(494)|endometrium(373)|haematopoietic_and_lymphoid_tissue(212)|stomach(145)|thyroid(97)|prostate(70)|small_intestine(56)|upper_aerodigestive_tract(47)|urinary_tract(47)|soft_tissue(42)|cervix(41)|skin(35)|liver(22)|breast(20)|testis(16)|oesophagus(11)|central_nervous_system(8)|peritoneum(6)|kidney(5)|eye(4)|NS(4)|autonomic_ganglia(3)|gastrointestinal_tract_(site_indeterminate)(3)|thymus(3)|penis(1)|adrenal_gland(1)|salivary_gland(1)|bone(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)GGT>TTT		c-K-ras2 protein isoform a precursor																																				SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284_25398285CC>AA	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34_35delinsAA	12.37:g.25398284_25398285delinsAA	ENSP00000256078:p.Gly12Phe	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12F|KRAS_uc001rgr.2_RNA	p.G12F	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	215_216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	DNP	ENST00000256078.4	37	c.34_35GG>TT	CCDS8703.1																																																																																				0.347	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		12	20	0	0	0	0.004672	0	12	20				
PTPRB	5787	broad.mit.edu	37	12	70946696	70946696	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:70946696T>C	ENST00000261266.5	-	19	4623	c.4594A>G	c.(4594-4596)Aaa>Gaa	p.K1532E	PTPRB_ENST00000538708.1_Missense_Mutation_p.K1442E|PTPRB_ENST00000334414.6_Missense_Mutation_p.K1750E|PTPRB_ENST00000451516.2_Missense_Mutation_p.K1442E|PTPRB_ENST00000550358.1_Missense_Mutation_p.K1662E|PTPRB_ENST00000550857.1_Missense_Mutation_p.K1442E	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1532	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.K1532E(2)|p.K1750E(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCGGCACATTTGCTGGCAAAA	0.473																																							uc001swb.3		NA																	3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(4594-4596)AAA>GAA		protein tyrosine phosphatase, receptor type, B							128.0	122.0	124.0					12																	70946696		1906	4139	6045	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70946696T>C	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4594A>G	12.37:g.70946696T>C	ENSP00000261266:p.Lys1532Glu					PTPRB_uc010sto.1_Missense_Mutation_p.K1442E|PTPRB_uc010stp.1_Missense_Mutation_p.K1442E|PTPRB_uc001swc.3_Missense_Mutation_p.K1750E|PTPRB_uc001swa.3_Missense_Mutation_p.K1662E	p.K1532E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		19	4624	-	Renal(347;0.236)		1532			Fibronectin type-III 17.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.4594A>G	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.027585	0.54683	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.02863	4.15;4.17;4.13;4.21;4.17;4.21	5.76	5.76	0.90799	Fibronectin, type III (3);	0.283609	0.36932	N	0.002338	T	0.02193	0.0068	N	0.14661	0.345	0.27597	N	0.949094	B;B;P;B;P	0.40660	0.317;0.317;0.702;0.323;0.726	B;B;B;B;B	0.40825	0.228;0.228;0.341;0.114;0.341	T	0.42865	-0.9426	10	0.07325	T	0.83	.	11.988	0.53159	0.0:0.0:0.1444:0.8556	.	1442;1442;1750;1532;1662	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	E	1750;1442;1662;1442;1442;1532	ENSP00000334928:K1750E;ENSP00000393028:K1442E;ENSP00000448058:K1662E;ENSP00000438927:K1442E;ENSP00000447302:K1442E;ENSP00000261266:K1532E	ENSP00000261266:K1532E	K	-	1	0	PTPRB	69232963	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.499000	0.45372	2.191000	0.70037	0.482000	0.46254	AAA		0.473	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			4	250	0	0	0	0.009096	0	4	250				
IFT81	28981	broad.mit.edu	37	12	110570411	110570411	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:110570411A>G	ENST00000242591.5	+	5	995	c.489A>G	c.(487-489)atA>atG	p.I163M	IFT81_ENST00000552912.1_Missense_Mutation_p.I163M|IFT81_ENST00000361948.4_Missense_Mutation_p.I163M	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	163					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)	p.I163M(4)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGCTCAAGATATCTGGATTTT	0.259																																							uc001tqi.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(487-489)ATA>ATG		intraflagellar transport 81-like isoform 1							37.0	43.0	41.0					12																	110570411		2197	4286	6483	SO:0001583	missense	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110570411A>G	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.489A>G	12.37:g.110570411A>G	ENSP00000242591:p.Ile163Met					IFT81_uc001tqh.2_Missense_Mutation_p.I163M|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Missense_Mutation_p.I163M	p.I163M	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN			5	619	+			163			Potential.		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.489A>G	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.780048	0.31502	.	.	ENSG00000122970	ENST00000361948;ENST00000552912;ENST00000242591	T;T;T	0.76709	-1.04;-1.04;-1.04	5.72	1.78	0.24846	.	0.302249	0.40469	N	0.001088	T	0.54208	0.1844	N	0.08118	0	0.80722	D	1	B;B	0.25390	0.125;0.007	B;B	0.31245	0.126;0.002	T	0.43048	-0.9415	10	0.52906	T	0.07	-0.4955	2.1798	0.03871	0.4654:0.2287:0.0702:0.2356	.	163;163	Q8WYA0;Q8WYA0-3	IFT81_HUMAN;.	M	163	ENSP00000355372:I163M;ENSP00000449718:I163M;ENSP00000242591:I163M	ENSP00000242591:I163M	I	+	3	3	IFT81	109054794	0.956000	0.32656	0.997000	0.53966	0.612000	0.37316	0.160000	0.16462	0.408000	0.25621	0.528000	0.53228	ATA		0.259	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		9	14	0	0	0	0.008291	0	9	14				
MED13L	23389	broad.mit.edu	37	12	116421330	116421330	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:116421330G>C	ENST00000281928.3	-	21	4753	c.4547C>G	c.(4546-4548)aCt>aGt	p.T1516S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1516						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.T1516S(2)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGCTGCAGAGTGGCTAAATA	0.473											OREG0022156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001tvw.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(4546-4548)ACT>AGT		mediator complex subunit 13-like							81.0	85.0	83.0					12																	116421330		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116421330G>C	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.4547C>G	12.37:g.116421330G>C	ENSP00000281928:p.Thr1516Ser		OREG0022156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1473		p.T1516S	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	21	4602	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1516					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.4547C>G	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253692	0.22965	.	.	ENSG00000123066	ENST00000281928	T	0.64991	-0.13	6.17	6.17	0.99709	.	0.188681	0.56097	D	0.000023	T	0.39886	0.1095	N	0.02368	-0.58	0.51767	D	0.999933	P	0.51351	0.944	B	0.43950	0.437	T	0.49072	-0.8977	10	0.02654	T	1	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1516	Q71F56	MD13L_HUMAN	S	1516	ENSP00000281928:T1516S	ENSP00000281928:T1516S	T	-	2	0	MED13L	114905713	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.937000	0.87672	2.941000	0.99782	0.655000	0.94253	ACT		0.473	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			12	45	0	0	0	0.013537	0	12	45				
PCDH8	5100	broad.mit.edu	37	13	53418997	53418997	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr13:53418997C>A	ENST00000377942.3	-	3	3114	c.2911G>T	c.(2911-2913)Ggg>Tgg	p.G971W	PCDH8_ENST00000338862.4_Missense_Mutation_p.G874W	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	971					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.G971W(2)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCGTTGGGCCCGCTGCAGGAT	0.577																																					GBM(36;25 841 9273 49207)	GBM(36;25 841 9273 49207)	uc001vhi.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(2911-2913)GGG>TGG		protocadherin 8 isoform 1 precursor							114.0	69.0	84.0					13																	53418997		2203	4300	6503	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53418997C>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2911G>T	13.37:g.53418997C>A	ENSP00000367177:p.Gly971Trp					PCDH8_uc001vhj.2_Missense_Mutation_p.G874W	p.G971W	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	3	3114	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	971			Cytoplasmic (Potential).		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.2911G>T	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927134	0.52759	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.52983	0.67;0.64	5.95	5.09	0.68999	.	0.158492	0.29767	N	0.011244	T	0.45696	0.1355	N	0.14661	0.345	0.43156	D	0.994939	D;D	0.65815	0.995;0.992	P;P	0.62885	0.862;0.908	T	0.48151	-0.9060	10	0.87932	D	0	.	8.3047	0.32036	0.0:0.6382:0.2708:0.091	.	874;971	O95206-2;O95206	.;PCDH8_HUMAN	W	971;874;497;814	ENSP00000367177:G971W;ENSP00000341350:G874W	ENSP00000341350:G874W	G	-	1	0	PCDH8	52316998	0.993000	0.37304	0.656000	0.29637	0.728000	0.41692	2.593000	0.46180	2.817000	0.96982	0.563000	0.77884	GGG		0.577	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		26	121	1	0	9.86323e-18	0.003954	1.30015e-17	26	121				
NALCN	259232	broad.mit.edu	37	13	101712232	101712232	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr13:101712232C>T	ENST00000251127.6	-	42	4924	c.4843G>A	c.(4843-4845)Gag>Aag	p.E1615K	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1615					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.E1615K(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGGTGGTCTCGATGCTGGGC	0.572																																							uc001vox.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(4843-4845)GAG>AAG		voltage gated channel like 1							142.0	111.0	121.0					13																	101712232		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101712232C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4843G>A	13.37:g.101712232C>T	ENSP00000251127:p.Glu1615Lys						p.E1615K	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			42	5032	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1615			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.4843G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893545	0.72639	.	.	ENSG00000102452	ENST00000251127	D	0.97598	-4.45	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.94039	0.8090	L	0.38175	1.15	0.80722	D	1	D	0.54047	0.964	B	0.39027	0.288	D	0.92923	0.6357	10	0.21014	T	0.42	.	19.5062	0.95116	0.0:1.0:0.0:0.0	.	1615	Q8IZF0	NALCN_HUMAN	K	1615	ENSP00000251127:E1615K	ENSP00000251127:E1615K	E	-	1	0	NALCN	100510233	1.000000	0.71417	0.988000	0.46212	0.649000	0.38597	7.487000	0.81328	2.604000	0.88044	0.655000	0.94253	GAG		0.572	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		29	122	0	0	0	0.009535	0	29	122				
TNFSF13B	10673	broad.mit.edu	37	13	108922448	108922448	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr13:108922448G>C	ENST00000375887.4	+	1	383	c.205G>C	c.(205-207)Gtg>Ctg	p.V69L	TNFSF13B_ENST00000542136.1_Missense_Mutation_p.V69L|TNFSF13B_ENST00000430559.1_Missense_Mutation_p.V69L	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	69					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.V69L(2)		large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	TTTCTACCAGGTGGCCGCCCT	0.662																																							uc001vqr.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(205-207)GTG>CTG		tumor necrosis factor superfamily, member 13b							65.0	71.0	69.0					13																	108922448		2203	4300	6503	SO:0001583	missense	10673				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding	g.chr13:108922448G>C	AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.205G>C	13.37:g.108922448G>C	ENSP00000365048:p.Val69Leu					TNFSF13B_uc010agj.2_Missense_Mutation_p.V69L	p.V69L	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		1	472	+	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		69			Extracellular (Potential).		E0ADT7|Q6FHD6|Q7Z5J2	Missense_Mutation	SNP	ENST00000375887.4	37	c.205G>C	CCDS9509.1	.	.	.	.	.	.	.	.	.	.	G	1.482	-0.557029	0.03967	.	.	ENSG00000102524	ENST00000430559;ENST00000375887;ENST00000542136	T;T;T	0.48522	0.81;0.81;0.81	5.04	1.1	0.20463	.	0.596144	0.16070	N	0.231058	T	0.29061	0.0722	L	0.41710	1.295	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.11329	0.006;0.003	T	0.25950	-1.0117	10	0.07325	T	0.83	-4.0727	4.5474	0.12088	0.0793:0.2706:0.5015:0.1486	.	69;69	Q9Y275-2;Q9Y275	.;TN13B_HUMAN	L	69	ENSP00000389540:V69L;ENSP00000365048:V69L;ENSP00000445334:V69L	ENSP00000365048:V69L	V	+	1	0	TNFSF13B	107720449	0.950000	0.32346	0.001000	0.08648	0.053000	0.15095	1.362000	0.34148	0.123000	0.18342	-0.182000	0.12963	GTG		0.662	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045739.3			79	192	0	0	0	0.01441	0	79	192				
COL4A1	1282	broad.mit.edu	37	13	110827061	110827061	+	Silent	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr13:110827061A>T	ENST00000375820.4	-	38	3355	c.3234T>A	c.(3232-3234)ccT>ccA	p.P1078P		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1078	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.P1078P(2)|p.P721P(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTTCTCTCCAGGGCTTCCTG	0.517																																							uc001vqw.3		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(3232-3234)CCT>CCA		alpha 1 type IV collagen preproprotein							139.0	150.0	146.0					13																	110827061		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110827061A>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3234T>A	13.37:g.110827061A>T						COL4A1_uc010agl.2_Intron	p.P1078P	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		38	3356	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1078			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.3234T>A	CCDS9511.1																																																																																				0.517	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			109	352	0	0	0	0.01441	0	109	352				
OR4K1	79544	broad.mit.edu	37	14	20404500	20404500	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr14:20404500C>A	ENST00000285600.4	+	1	734	c.675C>A	c.(673-675)gtC>gtA	p.V225V		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V225V(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGATCGGTGTCCGATGCAGGT	0.418																																							uc001vwj.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(673-675)GTC>GTA		olfactory receptor, family 4, subfamily K,							123.0	118.0	119.0					14																	20404500		2203	4300	6503	SO:0001819	synonymous_variant	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404500C>A		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.675C>A	14.37:g.20404500C>A							p.V225V	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	675	+	all_cancers(95;0.00108)		225			Cytoplasmic (Potential).		B9EKV9|Q8NGD6|Q96R73	Silent	SNP	ENST00000285600.4	37	c.675C>A	CCDS32025.1																																																																																				0.418	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			12	58	1	0	3.07112e-06	0.010729	3.5625e-06	12	58				
ACIN1	22985	broad.mit.edu	37	14	23547389	23547389	+	Silent	SNP	C	C	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr14:23547389C>G	ENST00000262710.1	-	8	2595	c.2268G>C	c.(2266-2268)ctG>ctC	p.L756L	ACIN1_ENST00000457657.1_Silent_p.L716L|ACIN1_ENST00000555053.1_Silent_p.L756L|ACIN1_ENST00000555352.1_5'UTR|ACIN1_ENST00000605057.1_Silent_p.L698L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	756					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L756L(2)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTGATTCTGGCAGATGAGAGG	0.507																																							uc001wit.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(1)|skin(1)	4						c.(2266-2268)CTG>CTC		apoptotic chromatin condensation inducer 1							245.0	233.0	237.0					14																	23547389		2203	4300	6503	SO:0001819	synonymous_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23547389C>G	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2268G>C	14.37:g.23547389C>G						ACIN1_uc001wis.3_Silent_p.L438L|ACIN1_uc010akg.2_Silent_p.L756L	p.L756L	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	8	2596	-	all_cancers(95;1.36e-05)		756					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	37	c.2268G>C	CCDS9587.1																																																																																				0.507	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		53	140	0	0	0	0.01441	0	53	140				
SPG11	80208	broad.mit.edu	37	15	44891010	44891010	+	Silent	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr15:44891010G>C	ENST00000261866.7	-	22	3727	c.3711C>G	c.(3709-3711)gcC>gcG	p.A1237A	SPG11_ENST00000427534.2_Silent_p.A1237A|SPG11_ENST00000535302.2_Silent_p.A1237A|SPG11_ENST00000558319.1_Silent_p.A1237A	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1237					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.A1237A(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTATAACATAGGCTTCATTGC	0.408																																							uc001ztx.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(1)	5						c.(3709-3711)GCC>GCG		spatacsin isoform 1							86.0	76.0	79.0					15																	44891010		2198	4298	6496	SO:0001819	synonymous_variant	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44891010G>C		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3711C>G	15.37:g.44891010G>C						SPG11_uc010ueh.1_Silent_p.A1237A|SPG11_uc010uei.1_Silent_p.A1237A|SPG11_uc001zty.1_5'UTR	p.A1237A	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	22	3742	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1237			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	c.3711C>G	CCDS10112.1																																																																																				0.408	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			18	49	0	0	0	0.00499	0	18	49				
LOC653786	653786	broad.mit.edu	37	16	22587979	22587979	+	RNA	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:22587979T>A	ENST00000550753.1	+	0	2454					NR_003676.2																						CCCTGCTGGTTCTAATGGCCA	0.527																																							uc002dlh.3		NA																	0					0						c.(970-972)GTT>GTA		RecName: Full=Otoancorin; Flags: Precursor;																																						653786							g.chr16:22587979T>A																													16.37:g.22587979T>A							p.V324V	NR_003676						9	2454	+									Silent	SNP	ENST00000550753.1	37	c.972T>A																																																																																					0.527	RP11-368J21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409041.1			14	143	0	0	0	0.008871	0	14	143				
BBS2	583	broad.mit.edu	37	16	56536674	56536674	+	Missense_Mutation	SNP	T	T	A	rs377749641		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:56536674T>A	ENST00000245157.5	-	8	1271	c.851A>T	c.(850-852)aAt>aTt	p.N284I	BBS2_ENST00000568104.1_Missense_Mutation_p.N284I|BBS2_ENST00000561951.1_5'UTR	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	284					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.N284I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						AGAAGAAAAATTGTCCTTAAA	0.418									Bardet-Biedl syndrome																														uc002ejd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(850-852)AAT>ATT		Bardet-Biedl syndrome 2 protein							92.0	85.0	87.0					16																	56536674		2198	4300	6498	SO:0001583	missense	583	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56536674T>A	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.851A>T	16.37:g.56536674T>A	ENSP00000245157:p.Asn284Ile					BBS2_uc010ccg.2_Missense_Mutation_p.N284I	p.N284I	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN			8	1085	-			284					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.851A>T	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.968957	0.92855	.	.	ENSG00000125124	ENST00000245157	D	0.91407	-2.84	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95153	0.8429	M	0.80028	2.48	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68192	0.956;0.956	D	0.95457	0.8539	10	0.62326	D	0.03	-22.4367	16.0832	0.81020	0.0:0.0:0.0:1.0	.	284;284	A8K0N9;Q9BXC9	.;BBS2_HUMAN	I	284	ENSP00000245157:N284I	ENSP00000245157:N284I	N	-	2	0	BBS2	55094175	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.988000	0.88194	2.203000	0.70933	0.454000	0.30748	AAT		0.418	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		5	120	0	0	0	0.000602	0	5	120				
FAM83G	644815	broad.mit.edu	37	17	18906919	18906919	+	Missense_Mutation	SNP	G	G	A	rs373051640		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:18906919G>A	ENST00000388995.6	-	2	659	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R146W|FAM83G_ENST00000585154.2_Missense_Mutation_p.R146W|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	146					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.R146W(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ACGCTAGCCCGGGTCACGCCG	0.677																																							uc002guw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(436-438)CGG>TGG		hypothetical protein LOC644815		G	TRP/ARG,,	1,4231		0,1,2115	29.0	34.0	32.0		436,,	2.0	1.0	17		32	0,8430		0,0,4215	no	missense,intron,intron	SLC5A10,FAM83G	NM_001039999.2,NM_001042450.1,NM_152351.3	101,,	0,1,6330	AA,AG,GG		0.0,0.0236,0.0079	probably-damaging,,	146/824,,	18906919	1,12661	2116	4215	6331	SO:0001583	missense	644815							g.chr17:18906919G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.436C>T	17.37:g.18906919G>A	ENSP00000373647:p.Arg146Trp					SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	p.R146W	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN			2	603	-			146					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.436C>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132493	0.37630	2.36E-4	0.0	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	T;T	0.14391	2.51;2.51	5.25	2.03	0.26663	.	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	M	0.85462	2.755	0.49483	D	0.999792	D	0.89917	1.0	D	0.97110	1.0	T	0.50516	-0.8819	10	0.87932	D	0	-34.5295	15.8741	0.79148	0.0:0.0:0.3562:0.6437	.	146	A6ND36	FA83G_HUMAN	W	146	ENSP00000373647:R146W;ENSP00000343279:R146W	ENSP00000343279:R146W	R	-	1	2	FAM83G	18847644	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.217000	0.42880	0.170000	0.19704	0.491000	0.48974	CGG		0.677	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			16	48	0	0	0	0.012319	0	16	48				
UBBP4	23666	broad.mit.edu	37	17	21731313	21731313	+	Silent	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:21731313G>C	ENST00000584755.1	+	2	1012	c.615G>C	c.(613-615)gcG>gcC	p.A205A	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron					ubiquitin B pseudogene 4									p.A205A(2)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGAAGATGGCGGTACTCTTTC	0.517																																							uc002gyy.3		NA																	2	Substitution - coding silent(2)		lung(2)		NA						c.(613-615)GCG>GCC		SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA;																																				SO:0001819	synonymous_variant	0							g.chr17:21731313G>C	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.615G>C	17.37:g.21731313G>C							p.A205A							2	740	+									Silent	SNP	ENST00000584755.1	37	c.615G>C																																																																																					0.517	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			37	97	0	0	0	0.007835	0	37	97				
KRTAP4-11	653240	broad.mit.edu	37	17	39274150	39274150	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:39274150T>A	ENST00000391413.2	-	1	456	c.418A>T	c.(418-420)Agc>Tgc	p.S140C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	140	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.S140C(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggagatgctgcagctgggg	0.672																																							uc002hvz.2		NA																	2	Substitution - Missense(2)		prostate(1)|kidney(1)		0						c.(418-420)AGC>TGC		keratin associated protein 4-11							8.0	13.0	12.0					17																	39274150		686	1587	2273	SO:0001583	missense	653240					keratin filament		g.chr17:39274150T>A	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.418A>T	17.37:g.39274150T>A	ENSP00000375232:p.Ser140Cys						p.S140C	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	457	-		Breast(137;0.000496)	140			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.418A>T	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	6.114	0.389323	0.11581	.	.	ENSG00000212721	ENST00000391413	T	0.00832	5.64	3.95	-4.72	0.03269	.	.	.	.	.	T	0.00178	0.0005	N	0.00010	-3.035	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48139	-0.9061	9	0.02654	T	1	.	4.7994	0.13289	0.3484:0.2238:0.0:0.4278	.	140	Q9BYQ6	KR411_HUMAN	C	140	ENSP00000375232:S140C	ENSP00000375232:S140C	S	-	1	0	KRTAP4-11	36527676	0.000000	0.05858	0.000000	0.03702	0.829000	0.46940	0.038000	0.13862	-0.681000	0.05204	-0.924000	0.02725	AGC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	22	0	0	0	0.00245	0	3	22				
HOXB1	3211	broad.mit.edu	37	17	46608145	46608146	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:46608145_46608146CT>AA	ENST00000239174.6	-	1	213_214	c.121_122AG>TT	c.(121-123)AGc>TTc	p.S41F	HOXB1_ENST00000577092.1_Missense_Mutation_p.S41F	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	41					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)	p.S41F(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCTTGCATAGCTGTCAACCGCC	0.663																																							uc002ink.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(121-123)AGC>TTC		homeobox B1																																				SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46608145_46608146CT>AA		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.121_122delinsAA	17.37:g.46608145_46608146delinsAA	ENSP00000355140:p.Ser41Phe						p.S41F	NM_002144	NP_002135	P14653	HXB1_HUMAN			1	127_128	-			41					Q4VB03	Missense_Mutation	DNP	ENST00000239174.6	37	c.121_122AG>TT	CCDS32675.1																																																																																				0.663	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			50	172	0	0	0	0.004672	0	50	172				
TLK2	11011	broad.mit.edu	37	17	60637432	60637432	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:60637432A>T	ENST00000326270.9	+	10	1044	c.776A>T	c.(775-777)tAc>tTc	p.Y259F	TLK2_ENST00000582809.1_Missense_Mutation_p.Y110F|TLK2_ENST00000346027.5_Missense_Mutation_p.Y259F|TLK2_ENST00000343388.7_Missense_Mutation_p.Y227F|TLK2_ENST00000542523.1_Missense_Mutation_p.Y227F	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	259					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Y259F(4)|p.Y258F(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CTAGAGAAATACAAGGAACGA	0.348																																							uc010ddp.2		NA																	6	Substitution - Missense(6)		lung(6)	stomach(1)|kidney(1)	2						c.(775-777)TAC>TTC		tousled-like kinase 2 isoform A							66.0	68.0	67.0					17																	60637432		2203	4297	6500	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60637432A>T	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.776A>T	17.37:g.60637432A>T	ENSP00000316512:p.Tyr259Phe					TLK2_uc002izx.3_Missense_Mutation_p.Y107F|TLK2_uc002izz.3_Missense_Mutation_p.Y259F|TLK2_uc002jaa.3_Missense_Mutation_p.Y227F|TLK2_uc010wpd.1_Missense_Mutation_p.Y227F	p.Y259F	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN			10	1044	+			259			Potential.		D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.776A>T		.	.	.	.	.	.	.	.	.	.	A	13.62	2.292645	0.40594	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.53	4.53	0.55603	.	0.059730	0.64402	D	0.000001	T	0.32704	0.0838	L	0.35414	1.06	0.51012	D	0.999902	B;B;B;B	0.17038	0.02;0.001;0.001;0.004	B;B;B;B	0.19666	0.026;0.005;0.005;0.003	T	0.09250	-1.0683	10	0.27785	T	0.31	.	13.5152	0.61537	1.0:0.0:0.0:0.0	.	259;227;259;259	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	F	259;227;259;227	ENSP00000275780:Y259F;ENSP00000340800:Y227F;ENSP00000316512:Y259F;ENSP00000442311:Y227F	ENSP00000316512:Y259F	Y	+	2	0	TLK2	57991164	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.806000	0.69150	2.037000	0.60232	0.533000	0.62120	TAC		0.348	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		8	52	0	0	0	0.008291	0	8	52				
ABCA8	10351	broad.mit.edu	37	17	66880001	66880001	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:66880001A>G	ENST00000269080.2	-	27	3655	c.3518T>C	c.(3517-3519)tTt>tCt	p.F1173S	ABCA8_ENST00000586539.1_Missense_Mutation_p.F1213S|ABCA8_ENST00000430352.2_Missense_Mutation_p.F1213S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1173					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.F1173S(2)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGTAAAAAGAAAAATGATAAA	0.289																																							uc002jhp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(3517-3519)TTT>TCT		ATP-binding cassette, sub-family A member 8							47.0	47.0	47.0					17																	66880001		2203	4297	6500	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66880001A>G	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3518T>C	17.37:g.66880001A>G	ENSP00000269080:p.Phe1173Ser					ABCA8_uc002jhq.2_Missense_Mutation_p.F1213S|ABCA8_uc010wqq.1_Missense_Mutation_p.F1213S	p.F1173S	NM_007168	NP_009099	O94911	ABCA8_HUMAN			27	3697	-	Breast(10;4.56e-13)		1173			Helical; (Potential).		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.3518T>C	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.786016	0.70337	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.87029	-2.18;-2.2	5.18	5.18	0.71444	.	0.134423	0.34223	N	0.004150	D	0.93556	0.7943	M	0.85462	2.755	0.29262	N	0.871239	D;D;D	0.71674	0.998;0.985;0.998	D;D;D	0.76575	0.988;0.956;0.988	D	0.90256	0.4297	10	0.54805	T	0.06	.	14.3524	0.66713	1.0:0.0:0.0:0.0	.	1213;1213;1173	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	S	1173;1213	ENSP00000269080:F1173S;ENSP00000402814:F1213S	ENSP00000269080:F1173S	F	-	2	0	ABCA8	64391596	0.850000	0.29656	0.086000	0.20670	0.978000	0.69477	2.463000	0.45058	2.174000	0.68829	0.528000	0.53228	TTT		0.289	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		3	8	0	0	0	0.004672	0	3	8				
KCNJ2	3759	broad.mit.edu	37	17	68171422	68171422	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:68171422G>C	ENST00000243457.3	+	2	625	c.242G>C	c.(241-243)tGg>tCg	p.W81S	KCNJ2_ENST00000535240.1_Missense_Mutation_p.W81S	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	81					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GACATTCGCTGGCGGTGGATG	0.512																																							uc010dfg.2		NA																	0					0						c.(241-243)TGG>TCG		potassium inwardly-rectifying channel J2							221.0	163.0	182.0					17																	68171422		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171422G>C	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.242G>C	17.37:g.68171422G>C	ENSP00000243457:p.Trp81Ser					KCNJ2_uc002jir.2_Missense_Mutation_p.W81S	p.W81S	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	643	+	Breast(10;1.64e-08)		81			Cytoplasmic (By similarity).		O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.242G>C	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604282	0.66445	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.97575	-4.44;-4.44	5.66	5.66	0.87406	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.99032	0.9669	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99297	1.0900	9	.	.	.	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	81	P63252	IRK2_HUMAN	S	81	ENSP00000441848:W81S;ENSP00000243457:W81S	.	W	+	2	0	KCNJ2	65683017	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.662000	0.90505	0.555000	0.69702	TGG		0.512	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		3	156	0	0	0	0.004672	0	3	156				
GRB2	2885	broad.mit.edu	37	17	73328799	73328799	+	Missense_Mutation	SNP	A	A	C	rs150762903		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:73328799A>C	ENST00000392562.1	-	3	940	c.158T>G	c.(157-159)aTa>aGa	p.I53R	GRB2_ENST00000316804.5_Missense_Mutation_p.I53R|GRB2_ENST00000392563.1_Missense_Mutation_p.I53R|GRB2_ENST00000316615.5_Missense_Mutation_p.I53R|GRB2_ENST00000392564.1_Missense_Mutation_p.I53R|GRB2_ENST00000578961.1_Missense_Mutation_p.I53R			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	53	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.I53R(2)		breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TTTCATTTCTATGTAGTTCTT	0.398																																							uc002jnx.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(157-159)ATA>AGA		growth factor receptor-bound protein 2 isoform	Pegademase bovine(DB00061)						184.0	157.0	166.0					17																	73328799		2203	4300	6503	SO:0001583	missense	2885				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	g.chr17:73328799A>C		CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"""SH2 domain containing"""	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.158T>G	17.37:g.73328799A>C	ENSP00000376345:p.Ile53Arg					GRB2_uc002jny.3_Missense_Mutation_p.I53R	p.I53R	NM_002086	NP_002077	P62993	GRB2_HUMAN	all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		3	515	-	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		53			SH3 1.		P29354|Q14450|Q63057|Q63059	Missense_Mutation	SNP	ENST00000392562.1	37	c.158T>G	CCDS11721.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.670420	0.88348	.	.	ENSG00000177885	ENST00000316804;ENST00000392562;ENST00000392564;ENST00000392563;ENST00000316615	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.51	5.51	0.81932	Src homology-3 domain (2);	0.077175	0.85682	D	0.000000	T	0.57577	0.2063	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.989;0.999	T	0.65717	-0.6100	10	0.87932	D	0	-20.9671	15.9314	0.79663	1.0:0.0:0.0:0.0	.	53;53	P62993-2;P62993	.;GRB2_HUMAN	R	53	ENSP00000339007:I53R;ENSP00000376345:I53R;ENSP00000376347:I53R;ENSP00000376346:I53R;ENSP00000317360:I53R	ENSP00000317360:I53R	I	-	2	0	GRB2	70840394	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.032000	0.93736	2.217000	0.71921	0.482000	0.46254	ATA		0.398	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1			13	62	0	0	0	0.013537	0	13	62				
FASN	2194	broad.mit.edu	37	17	80037127	80037127	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:80037127G>A	ENST00000306749.2	-	43	7646	c.7428C>T	c.(7426-7428)gtC>gtT	p.V2476V	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2476	Thioesterase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V2476V(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CACCCTCGATGACGTGGACGG	0.662																																					Colon(59;314 1043 11189 28578 32273)	Colon(59;314 1043 11189 28578 32273)	uc002kdu.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(7426-7428)GTC>GTT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						110.0	93.0	99.0					17																	80037127		2203	4300	6503	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80037127G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.7428C>T	17.37:g.80037127G>A						FASN_uc002kdv.1_RNA	p.V2476V	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		43	7545	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		2476			Thioesterase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.7428C>T	CCDS11801.1																																																																																				0.662	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		39	151	0	0	0	0.006999	0	39	151				
DSG1	1828	broad.mit.edu	37	18	28908187	28908187	+	Silent	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr18:28908187A>T	ENST00000257192.4	+	4	464	c.252A>T	c.(250-252)acA>acT	p.T84T		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	84	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.T84T(2)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGCAAGTTACATACCGCATCT	0.373																																							uc002kwp.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(250-252)ACA>ACT		desmoglein 1 preproprotein							94.0	91.0	92.0					18																	28908187		2203	4299	6502	SO:0001819	synonymous_variant	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28908187A>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.252A>T	18.37:g.28908187A>T							p.T84T	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		4	464	+			84			Extracellular (Potential).|Cadherin 1.		B7Z845	Silent	SNP	ENST00000257192.4	37	c.252A>T	CCDS11896.1																																																																																				0.373	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		8	34	0	0	0	0.00308	0	8	34				
ASXL3	80816	broad.mit.edu	37	18	31323436	31323436	+	Silent	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr18:31323436T>A	ENST00000269197.5	+	12	3624	c.3624T>A	c.(3622-3624)ccT>ccA	p.P1208P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1208	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P915P(2)|p.P1208P(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAAACATACCTGTGTCACATT	0.398																																							uc010dmg.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)|pancreas(1)	3						c.(3622-3624)CCT>CCA		additional sex combs like 3							70.0	65.0	66.0					18																	31323436		1859	4106	5965	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323436T>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3624T>A	18.37:g.31323436T>A						ASXL3_uc002kxq.2_Silent_p.P915P	p.P1208P	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	3679	+			1208			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.3624T>A	CCDS45847.1																																																																																				0.398	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			12	59	0	0	0	0.013537	0	12	59				
BCL2	596	broad.mit.edu	37	18	60985890	60985890	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr18:60985890C>G	ENST00000398117.1	-	1	1471	c.10G>C	c.(10-12)Gct>Cct	p.A4P	BCL2_ENST00000589955.1_Missense_Mutation_p.A4P|BCL2_ENST00000444484.1_Missense_Mutation_p.A4P|BCL2_ENST00000333681.4_Missense_Mutation_p.A4P	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	4					actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625)	p.A4P(4)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367)	GTTCTCCCAGCGTGCGCCATC	0.587			T	IGH@	"""NHL, CLL"""																																		uc002lit.1		NA		Dom	yes		18	18q21.3	596	T	B-cell CLL/lymphoma 2			L	IGH@		NHL|CLL		4	Substitution - Missense(4)		lung(4)	central_nervous_system(1)	1						c.(10-12)GCT>CCT		B-cell lymphoma protein 2 alpha isoform	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)						61.0	68.0	66.0					18																	60985890		1943	4051	5994	SO:0001583	missense	596				activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding	g.chr18:60985890C>G	M14745	CCDS11981.1, CCDS45882.1	18q21.3	2014-03-07			ENSG00000171791	ENSG00000171791		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	990	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 50"""	151430					Standard	XM_006722523		Approved	Bcl-2, PPP1R50	uc002lit.1	P10415	OTTHUMG00000132791	ENST00000398117.1:c.10G>C	18.37:g.60985890C>G	ENSP00000381185:p.Ala4Pro					BCL2_uc002liu.1_Missense_Mutation_p.A4P|BCL2_uc002liv.1_Missense_Mutation_p.A4P	p.A4P	NM_000633	NP_000624	P10415	BCL2_HUMAN		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	2	503	-		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)	4					C9JHD5|P10416|Q13842|Q16197	Missense_Mutation	SNP	ENST00000398117.1	37	c.10G>C	CCDS11981.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928636	0.34002	.	.	ENSG00000171791	ENST00000398117;ENST00000333681;ENST00000444484	T;T;T	0.09255	3.04;3.04;3.0	4.48	3.56	0.40772	.	0.279818	0.29616	N	0.011656	T	0.03520	0.0101	N	0.00926	-1.1	0.34294	D	0.683567	B;B	0.13145	0.002;0.007	B;B	0.15484	0.003;0.013	T	0.29397	-1.0013	10	0.24483	T	0.36	-8.3573	11.4936	0.50396	0.0:0.5879:0.4121:0.0	.	4;4	C9JHD5;P10415	.;BCL2_HUMAN	P	4	ENSP00000381185:A4P;ENSP00000329623:A4P;ENSP00000404214:A4P	ENSP00000329623:A4P	A	-	1	0	BCL2	59136870	1.000000	0.71417	0.983000	0.44433	0.984000	0.73092	2.204000	0.42761	2.320000	0.78422	0.591000	0.81541	GCT		0.587	BCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256199.1	NM_000633, NM_000657		25	124	0	0	0	0.005443	0	25	124				
ZNF43	7594	broad.mit.edu	37	19	21991282	21991282	+	Silent	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:21991282A>G	ENST00000354959.4	-	4	1726	c.1557T>C	c.(1555-1557)ttT>ttC	p.F519F	ZNF43_ENST00000598381.1_Silent_p.F513F|ZNF43_ENST00000594012.1_Silent_p.F513F|ZNF43_ENST00000595461.1_Silent_p.F513F	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F519F(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AGGACCACTTAAAAGCTTTGC	0.368																																							uc002nqj.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(1555-1557)TTT>TTC		zinc finger protein 43							56.0	60.0	58.0					19																	21991282		2193	4287	6480	SO:0001819	synonymous_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991282A>G	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1557T>C	19.37:g.21991282A>G						ZNF43_uc010ecv.2_Silent_p.F513F|ZNF43_uc002nql.2_Silent_p.F513F|ZNF43_uc002nqm.2_Silent_p.F513F|ZNF43_uc002nqk.2_Silent_p.F449F	p.F519F	NM_003423	NP_003414	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	4	1687	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	519			C2H2-type 13.		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	c.1557T>C	CCDS12413.2																																																																																				0.368	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		25	51	0	0	0	0.004656	0	25	51				
RPSAP58	388524	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:24010294C>G	ENST00000496398.1	+	4	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E	RP11-255H23.2_ENST00000471224.1_RNA|RP11-255H23.4_ENST00000599944.1_lincRNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.Q111E					ribosomal protein SA pseudogene 58									p.Q111E(12)		endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CTTCACTAACCAGATCCAGGC	0.567																																							uc002nrn.2		NA																	12	Substitution - Missense(12)		kidney(6)|urinary_tract(2)|prostate(2)|endometrium(2)		0						c.(331-333)CAG>GAG		ribosomal protein SA																																				SO:0001583	missense	388524							g.chr19:24010294C>G			19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.331C>G	19.37:g.24010294C>G	ENSP00000417240:p.Gln111Glu						p.Q111E	NM_002295	NP_002286					4	754	+									Missense_Mutation	SNP	ENST00000496398.1	37	c.331C>G		.	.	.	.	.	.	.	.	.	.	.	13.90	2.375690	0.42105	.	.	ENSG00000205246	ENST00000496398;ENST00000354585	T;T	0.21932	1.98;1.98	2.52	2.52	0.30459	.	0.000000	0.64402	U	0.000001	T	0.17619	0.0423	.	.	.	0.48830	D	0.999718	B	0.34226	0.443	B	0.32624	0.149	T	0.11084	-1.0602	9	0.72032	D	0.01	.	10.8987	0.47038	0.0:1.0:0.0:0.0	.	111	A6NE09	.	E	111	ENSP00000417240:Q111E;ENSP00000346598:Q111E	ENSP00000346598:Q111E	Q	+	1	0	RPSAP58	23802134	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.812000	0.62613	1.477000	0.48234	0.627000	0.83407	CAG		0.567	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350238.1	NR_003662		4	52	0	0	0	0.000602	0	4	52				
ZNF536	9745	broad.mit.edu	37	19	30935217	30935217	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:30935217G>T	ENST00000355537.3	+	2	895	c.748G>T	c.(748-750)Gac>Tac	p.D250Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	250					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.D250Y(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAGCGTTCCCGACGTGGCCCA	0.746																																							uc002nsu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(748-750)GAC>TAC		zinc finger protein 536							5.0	6.0	6.0					19																	30935217		1960	3883	5843	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935217G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.748G>T	19.37:g.30935217G>T	ENSP00000347730:p.Asp250Tyr					ZNF536_uc010edd.1_Missense_Mutation_p.D250Y	p.D250Y	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	886	+	Esophageal squamous(110;0.0834)		250					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.748G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073454	0.36566	.	.	ENSG00000198597	ENST00000355537	T	0.09255	3.0	5.7	5.7	0.88788	.	0.233623	0.47093	D	0.000258	T	0.25901	0.0631	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.972;0.987	T	0.00509	-1.1698	10	0.59425	D	0.04	-41.5035	19.8172	0.96573	0.0:0.0:1.0:0.0	.	250;250	A7E228;O15090	.;ZN536_HUMAN	Y	250	ENSP00000347730:D250Y	ENSP00000347730:D250Y	D	+	1	0	ZNF536	35627057	1.000000	0.71417	0.998000	0.56505	0.276000	0.26787	9.828000	0.99408	2.702000	0.92279	0.491000	0.48974	GAC		0.746	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		6	24	1	0	8.12818e-05	0.001984	9.00831e-05	6	24				
ZNF536	9745	broad.mit.edu	37	19	31039011	31039011	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:31039011G>T	ENST00000355537.3	+	4	2632	c.2485G>T	c.(2485-2487)Gct>Tct	p.A829S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	829					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.A829S(2)		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)					GTCAAGCAAAGCTTCTCTGTT	0.577																																							uc002nsu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|large_intestine(2)|skin(2)	11						c.(2485-2487)GCT>TCT		zinc finger protein 536							73.0	81.0	78.0					19																	31039011		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039011G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2485G>T	19.37:g.31039011G>T	ENSP00000347730:p.Ala829Ser					ZNF536_uc010edd.1_Missense_Mutation_p.A829S	p.A829S	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	2623	+	Esophageal squamous(110;0.0834)		829					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2485G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	6.871	0.530011	0.13127	.	.	ENSG00000198597	ENST00000355537	T	0.08370	3.1	5.98	4.95	0.65309	.	0.403484	0.29767	N	0.011260	T	0.04003	0.0112	N	0.08118	0	0.33307	D	0.565636	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.27872	-1.0061	10	0.11182	T	0.66	-8.5778	9.3089	0.37891	0.2248:0.0:0.7752:0.0	.	829;829	A7E228;O15090	.;ZN536_HUMAN	S	829	ENSP00000347730:A829S	ENSP00000347730:A829S	A	+	1	0	ZNF536	35730851	1.000000	0.71417	0.984000	0.44739	0.945000	0.59286	5.294000	0.65687	1.547000	0.49401	0.591000	0.81541	GCT		0.577	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		50	192	1	0	4.29476e-34	0.01441	6.12531e-34	50	192				
ZNF829	374899	broad.mit.edu	37	19	37383369	37383369	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:37383369C>A	ENST00000391711.3	-	6	688	c.324G>T	c.(322-324)ctG>ctT	p.L108L	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000520965.1_Silent_p.L189L	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L108L(2)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTGATTCCAGATCTGAAA	0.313																																							uc002ofa.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(322-324)CTG>CTT		zinc finger protein 829							43.0	40.0	41.0					19																	37383369		1799	4082	5881	SO:0001819	synonymous_variant	374899				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37383369C>A	BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.324G>T	19.37:g.37383369C>A						ZNF345_uc002oez.2_Intron	p.L108L	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	686	-	Esophageal squamous(110;0.183)		108					Q3KNS7|Q6ZNN0|Q7Z657	Silent	SNP	ENST00000391711.3	37	c.324G>T	CCDS42557.1																																																																																				0.313	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232		5	38	1	0	3.59834e-05	0.001168	4.03942e-05	5	38				
HNRNPL	3191	broad.mit.edu	37	19	39330766	39330766	+	Silent	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:39330766A>G	ENST00000221419.5	-	8	1569	c.1203T>C	c.(1201-1203)aaT>aaC	p.N401N	AC104534.3_ENST00000594769.1_Missense_Mutation_p.M18T|HNRNPL_ENST00000600873.1_Silent_p.N268N	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	401	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.N401N(2)|p.N268N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AGCAGAAGACATTGAAGACTC	0.572																																							uc010xul.1		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(1201-1203)AAT>AAC		heterogeneous nuclear ribonucleoprotein L							48.0	53.0	51.0					19																	39330766		2185	4275	6460	SO:0001819	synonymous_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39330766A>G	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1203T>C	19.37:g.39330766A>G						HNRNPL_uc010ege.1_Silent_p.N57N|HNRNPL_uc002ojj.1_Silent_p.N57N|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Silent_p.N57N|HNRNPL_uc002ojl.2_Silent_p.N57N|HNRNPL_uc010xum.1_Silent_p.N268N|HNRNPL_uc002ojp.1_Silent_p.N57N|HNRNPL_uc010xun.1_3'UTR	p.N401N	NM_001533	NP_001524	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		8	1214	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		401			RRM 3.		A6ND69|A6NIT8|Q9H3P3	Silent	SNP	ENST00000221419.5	37	c.1203T>C	CCDS33015.1																																																																																				0.572	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			44	156	0	0	0	0.01441	0	44	156				
RELB	5971	broad.mit.edu	37	19	45515272	45515272	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:45515272G>C	ENST00000221452.8	+	4	392	c.242G>C	c.(241-243)cGc>cCc	p.R81P	RELB_ENST00000540120.1_Missense_Mutation_p.R81P|RELB_ENST00000505236.1_Missense_Mutation_p.R78P	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	81					antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R81P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GGGCTGCCACGCCTGGTGTCT	0.711																																							uc002paj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(241-243)CGC>CCC		reticuloendotheliosis viral oncogene homolog B							7.0	8.0	8.0					19																	45515272		1779	3847	5626	SO:0001583	missense	5971					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:45515272G>C	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.242G>C	19.37:g.45515272G>C	ENSP00000221452:p.Arg81Pro						p.R81P	NM_006509	NP_006500	Q01201	RELB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00986)	5	368	+		Ovarian(192;0.0728)|all_neural(266;0.112)	81					Q6GTX7|Q9UEI7	Missense_Mutation	SNP	ENST00000221452.8	37	c.242G>C	CCDS46110.1	.	.	.	.	.	.	.	.	.	.	G	9.461	1.093011	0.20471	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.52295	0.68;0.68;0.67	4.21	1.95	0.26073	.	0.659663	0.12642	N	0.451245	T	0.23965	0.0580	N	0.14661	0.345	0.09310	N	1	P	0.50443	0.935	B	0.36766	0.232	T	0.11966	-1.0566	10	0.72032	D	0.01	-16.3496	4.8034	0.13308	0.1126:0.0:0.6769:0.2105	.	78	D6R992	.	P	81;81;78	ENSP00000221452:R81P;ENSP00000445542:R81P;ENSP00000423287:R78P	ENSP00000221452:R81P	R	+	2	0	RELB	50207112	0.928000	0.31464	0.087000	0.20705	0.102000	0.19082	2.143000	0.42187	0.370000	0.24538	0.462000	0.41574	CGC		0.711	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			5	13	0	0	0	0.001984	0	5	13				
KLK3	354	broad.mit.edu	37	19	51359612	51359612	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:51359612G>A	ENST00000326003.2	+	2	204	c.163G>A	c.(163-165)Gtg>Atg	p.V55M	KLK3_ENST00000597483.1_Missense_Mutation_p.V55M|KLK3_ENST00000595952.1_Missense_Mutation_p.V55M|KLK3_ENST00000360617.3_Missense_Mutation_p.V55M|KLK3_ENST00000593997.1_Missense_Mutation_p.V55M	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	55	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.V55M(4)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CGGTGTTCTGGTGCACCCCCA	0.632																																					Colon(185;1767 2023 13025 30120 37630)	Colon(185;1767 2023 13025 30120 37630)	uc002pts.1		NA																	4	Substitution - Missense(4)		lung(4)	upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(163-165)GTG>ATG		prostate specific antigen isoform 3							89.0	87.0	87.0					19																	51359612		2203	4300	6503	SO:0001583	missense	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51359612G>A	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.163G>A	19.37:g.51359612G>A	ENSP00000314151:p.Val55Met					KLK3_uc002ptp.1_Missense_Mutation_p.V55M|KLK3_uc010ycj.1_Missense_Mutation_p.V55M|KLK3_uc002ptr.1_Missense_Mutation_p.V55M|KLK3_uc010eof.1_RNA	p.V55M	NM_001030047	NP_001025218	P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	2	204	+		all_neural(266;0.057)	55			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	c.163G>A	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720421	0.30503	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617;ENST00000435152;ENST00000326052	T;T;T	0.62498	3.04;0.02;3.04	2.91	-1.0	0.10196	.	0.853409	0.09414	N	0.805370	T	0.68604	0.3019	M	0.66560	2.04	0.24640	N	0.993576	D;D;D;P	0.59767	0.975;0.986;0.966;0.869	P;P;P;B	0.62184	0.899;0.796;0.709;0.346	T	0.57201	-0.7852	10	0.72032	D	0.01	.	3.1289	0.06417	0.2872:0.2293:0.4835:0.0	.	55;55;55;55	Q8NCW4;G3XAE3;G3V0H4;C9JXH3	.;.;.;.	M	55	ENSP00000314151:V55M;ENSP00000393628:V55M;ENSP00000353829:V55M	ENSP00000314151:V55M	V	+	1	0	KLK3	56051424	0.998000	0.40836	0.486000	0.27416	0.144000	0.21451	0.943000	0.29030	0.111000	0.17947	-0.462000	0.05337	GTG		0.632	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		63	218	0	0	0	0.01441	0	63	218				
LILRB1	10859	broad.mit.edu	37	19	55143640	55143640	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:55143640C>A	ENST00000396331.1	+	6	970	c.613C>A	c.(613-615)Ccc>Acc	p.P205T	LILRB1_ENST00000396315.1_Missense_Mutation_p.P205T|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000418536.2_Missense_Mutation_p.P205T|LILRB1_ENST00000427581.2_Missense_Mutation_p.P241T|LILRB1_ENST00000396332.4_Missense_Mutation_p.P205T|LILRB1_ENST00000396321.2_Missense_Mutation_p.P205T|LILRB1_ENST00000434867.2_Missense_Mutation_p.P205T|LILRB1_ENST00000396317.1_Missense_Mutation_p.P205T|LILRB1_ENST00000396327.3_Missense_Mutation_p.P205T|LILRB1_ENST00000324602.7_Missense_Mutation_p.P205T|LILRB1_ENST00000448689.1_Missense_Mutation_p.P205T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	205	Ig-like C2-type 2.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.P205T(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTCGAACTCTCCCTATGAGTG	0.607										HNSCC(37;0.09)																													uc002qgj.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(613-615)CCC>ACC		leukocyte immunoglobulin-like receptor,							157.0	155.0	156.0					19																	55143640		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143640C>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.613C>A	19.37:g.55143640C>A	ENSP00000379622:p.Pro205Thr	HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.P205T|LILRB1_uc002qgk.2_Missense_Mutation_p.P205T|LILRB1_uc002qgm.2_Missense_Mutation_p.P205T|LILRB1_uc010erq.2_Missense_Mutation_p.P205T|LILRB1_uc010err.2_RNA	p.P205T	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	6	953	+			205			Ig-like C2-type 2.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.613C>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	5.965	0.361948	0.11296	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89	1.49	0.396	0.16309	Immunoglobulin-like fold (1);	0.431079	0.19689	N	0.108302	T	0.45955	0.1368	H	0.95114	3.625	0.09310	N	1	D;B;P;P;B	0.55605	0.972;0.276;0.925;0.642;0.178	P;B;B;B;B	0.53224	0.721;0.096;0.258;0.178;0.044	T	0.41413	-0.9510	10	0.72032	D	0.01	.	3.6471	0.08189	0.0:0.7403:0.0:0.2597	.	205;205;205;205;205	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	T	205;205;205;205;205;205;205;205;241;205;205	ENSP00000379614:P205T;ENSP00000391514:P205T;ENSP00000409968:P205T;ENSP00000379622:P205T;ENSP00000379618:P205T;ENSP00000315997:P205T;ENSP00000405243:P205T;ENSP00000379623:P205T;ENSP00000395004:P241T;ENSP00000379610:P205T;ENSP00000379608:P205T	ENSP00000315997:P205T	P	+	1	0	LILRB1	59835452	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-0.125000	0.10579	0.181000	0.19994	0.184000	0.17185	CCC		0.607	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			51	203	1	0	5.82388e-19	0.01441	7.79504e-19	51	203				
ZNF835	90485	broad.mit.edu	37	19	57175617	57175617	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:57175617T>C	ENST00000537055.2	-	2	1181	c.950A>G	c.(949-951)cAg>cGg	p.Q317R		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	317					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q339R(2)|p.G334fs*26(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGAGGCGCTCTGGCTGAAGAG	0.701																																							uc010ygo.1		NA																	3	Substitution - Missense(2)|Deletion - Frameshift(1)	p.G334fs*26(1)	lung(2)|pancreas(1)	pancreas(3)|skin(1)	4						c.(1015-1017)CAG>CGG		zinc finger protein 835							16.0	17.0	17.0					19																	57175617		2199	4294	6493	SO:0001583	missense	90485							g.chr19:57175617T>C	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.950A>G	19.37:g.57175617T>C	ENSP00000444747:p.Gln317Arg					ZNF835_uc010ygn.1_Missense_Mutation_p.Q317R	p.Q339R	NM_001005850	NP_001005850					2	1016	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.1016A>G	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.472210	0.43942	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.35605	1.3	2.27	2.27	0.28462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17365	0.0417	N	0.03983	-0.305	0.09310	N	0.999997	P	0.40230	0.708	P	0.45639	0.488	T	0.11616	-1.0580	9	0.13853	T	0.58	.	4.0184	0.09654	0.0:0.1709:0.0:0.8291	.	339	Q9Y2P0	ZN835_HUMAN	R	339;317	ENSP00000444747:Q317R	ENSP00000341756:Q339R	Q	-	2	0	ZNF835	61867429	0.000000	0.05858	0.945000	0.38365	0.852000	0.48524	-0.537000	0.06128	1.301000	0.44836	0.459000	0.35465	CAG		0.701	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		6	19	0	0	0	0.00308	0	6	19				
GALNT14	79623	broad.mit.edu	37	2	31178571	31178571	+	Silent	SNP	G	G	T	rs145356432		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:31178571G>T	ENST00000349752.5	-	6	1206	c.567C>A	c.(565-567)atC>atA	p.I189I	GALNT14_ENST00000356174.3_Silent_p.I156I|GALNT14_ENST00000420311.2_Silent_p.I154I|GALNT14_ENST00000324589.5_Silent_p.I194I|GALNT14_ENST00000406653.1_Silent_p.I169I|GALNT14_ENST00000486564.1_5'Flank	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	189	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.I189I(2)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGCCCTGGGCGATGTCAGCGC	0.602																																							uc002rnr.2		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(2)|skin(1)	3						c.(565-567)ATC>ATA		N-acetylgalactosaminyltransferase 14							59.0	58.0	58.0					2																	31178571		2203	4300	6503	SO:0001819	synonymous_variant	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31178571G>T	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.567C>A	2.37:g.31178571G>T						GALNT14_uc002rnq.2_Silent_p.I169I|GALNT14_uc002rns.2_Silent_p.I194I|GALNT14_uc010ymr.1_Silent_p.I154I|GALNT14_uc010ezo.1_Silent_p.I156I|GALNT14_uc010ezp.1_Silent_p.I160I	p.I189I	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN			6	1186	-	Acute lymphoblastic leukemia(172;0.155)		189			Lumenal (Potential).|Catalytic subdomain A.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	ENST00000349752.5	37	c.567C>A	CCDS1773.2																																																																																				0.602	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		33	134	1	0	6.00712e-18	0.012213	7.97893e-18	33	134				
ORC2	4999	broad.mit.edu	37	2	201814323	201814323	+	Silent	SNP	A	A	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:201814323A>C	ENST00000234296.2	-	5	531	c.282T>G	c.(280-282)gtT>gtG	p.V94V	ORC2_ENST00000467605.1_5'UTR	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	94					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)	p.V94V(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GAAAAGAATAAACTTTATTTC	0.284																																							uc002uwr.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(280-282)GTT>GTG		origin recognition complex, subunit 2							51.0	50.0	51.0					2																	201814323		2202	4289	6491	SO:0001819	synonymous_variant	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201814323A>C		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.282T>G	2.37:g.201814323A>C						ORC2L_uc010zhj.1_Silent_p.V94V	p.V94V	NM_006190	NP_006181	Q13416	ORC2_HUMAN			5	539	-			94					Q13204|Q53TX5	Silent	SNP	ENST00000234296.2	37	c.282T>G	CCDS2334.1																																																																																				0.284	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		8	37	0	0	0	0.008291	0	8	37				
DAW1	164781	broad.mit.edu	37	2	228750068	228750068	+	Splice_Site	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:228750068A>T	ENST00000309931.2	+	2	125	c.42A>T	c.(40-42)ggA>ggT	p.G14G	SNORA25_ENST00000607153.1_RNA|DAW1_ENST00000373666.2_Splice_Site_p.G14G|DAW1_ENST00000545118.1_5'UTR	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	14						cilium (GO:0005929)		p.G14G(2)									TTTCTATAGGAATTATGTTGG	0.303																																							uc002vpn.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(40-42)GGA>GGT		WD repeat domain 69							90.0	101.0	97.0					2																	228750068		2203	4300	6503	SO:0001630	splice_region_variant	164781							g.chr2:228750068A>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.41-1A>T	2.37:g.228750068A>T						WDR69_uc010zlw.1_5'UTR|WDR69_uc002vpo.1_RNA	p.G14G	NM_178821	NP_849143	Q8N136	WDR69_HUMAN		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)	2	121	+		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	14					Q6ZRY1|Q8N776	Silent	SNP	ENST00000309931.2	37	c.42A>T	CCDS2470.1																																																																																				0.303	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821	Silent	12	38	0	0	0	0.001855	0	12	38				
NGEF	25791	broad.mit.edu	37	2	233839373	233839373	+	Silent	SNP	C	C	T	rs577781370		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:233839373C>T	ENST00000264051.3	-	2	506	c.228G>A	c.(226-228)aaG>aaA	p.K76K		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	76	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K76K(4)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TGTCTCTGGCCTTGGCTTTGC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		20808	0.001		0.0	False		,,,				2504	0.0						uc002vts.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(3)|central_nervous_system(3)|skin(1)	7						c.(226-228)AAG>AAA		neuronal guanine nucleotide exchange factor							298.0	282.0	288.0					2																	233839373		2203	4300	6503	SO:0001819	synonymous_variant	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233839373C>T	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.228G>A	2.37:g.233839373C>T							p.K76K	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	2	476	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	76			Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Silent	SNP	ENST00000264051.3	37	c.228G>A	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	C	4.843	0.156664	0.09236	.	.	ENSG00000066248	ENST00000414326	.	.	.	4.68	0.0302	0.14165	.	.	.	.	.	T	0.32194	0.0821	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28964	-1.0027	4	.	.	.	.	8.0922	0.30807	0.0:0.5978:0.0:0.4022	.	.	.	.	K	45	.	.	R	-	2	0	NGEF	233547617	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.116000	0.10724	-0.124000	0.11724	0.655000	0.94253	AGG		0.512	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		86	369	0	0	0	0.01441	0	86	369				
PER2	8864	broad.mit.edu	37	2	239186473	239186473	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:239186473G>A	ENST00000254657.3	-	2	384	c.105C>T	c.(103-105)agC>agT	p.S35S	PER2_ENST00000440245.1_Silent_p.S35S|PER2_ENST00000254658.3_Silent_p.S35S|PER2_ENST00000355768.2_Silent_p.S35S	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	35					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.S35S(2)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGGAGCCACTGCTCATGTCCA	0.627																																							uc002vyc.2		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|breast(1)	2						c.(103-105)AGC>AGT		period 2							67.0	64.0	65.0					2																	239186473		2203	4300	6503	SO:0001819	synonymous_variant	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239186473G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.105C>T	2.37:g.239186473G>A						PER2_uc010znv.1_Silent_p.S35S|PER2_uc010znw.1_Silent_p.S35S|PER2_uc010fyx.1_Silent_p.S35S	p.S35S	NM_022817	NP_073728	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	2	342	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	35					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	c.105C>T	CCDS2528.1																																																																																				0.627	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		27	138	0	0	0	0.004289	0	27	138				
SIRPG	55423	broad.mit.edu	37	20	1629958	1629958	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:1629958G>A	ENST00000303415.3	-	2	234	c.170C>T	c.(169-171)tCc>tTc	p.S57F	RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381580.1_Missense_Mutation_p.S24F|SIRPG_ENST00000344103.4_Missense_Mutation_p.S57F|SIRPG_ENST00000216927.4_Missense_Mutation_p.S57F|SIRPG_ENST00000381583.2_Missense_Mutation_p.S57F	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	57	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S57F(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGGAAGCAGGGAGGTCACAGT	0.537																																							uc002wfm.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(169-171)TCC>TTC		signal-regulatory protein gamma isoform 1							108.0	105.0	106.0					20																	1629958		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1629958G>A	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.170C>T	20.37:g.1629958G>A	ENSP00000305529:p.Ser57Phe					SIRPG_uc002wfn.1_Missense_Mutation_p.S57F|SIRPG_uc002wfo.1_Missense_Mutation_p.S57F	p.S57F	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			2	235	-			57			Extracellular (Potential).|Ig-like V-type.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.170C>T	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	12.79	2.042728	0.36085	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.02525	4.26;4.26;4.26;4.26;4.26	1.93	0.905	0.19307	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.717420	0.12996	N	0.422061	T	0.16342	0.0393	M	0.92169	3.28	0.09310	N	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.80764	0.977;0.984;0.994	T	0.03249	-1.1056	10	0.87932	D	0	.	6.1767	0.20447	0.0:0.3203:0.6797:0.0	.	57;57;57	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	F	24;57;57;57;57	ENSP00000370992:S24F;ENSP00000342759:S57F;ENSP00000305529:S57F;ENSP00000370995:S57F;ENSP00000216927:S57F	ENSP00000216927:S57F	S	-	2	0	SIRPG	1577958	0.000000	0.05858	0.013000	0.15412	0.254000	0.26022	0.173000	0.16724	0.344000	0.23847	0.195000	0.17529	TCC		0.537	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		23	126	0	0	0	0.012319	0	23	126				
PTPRA	5786	broad.mit.edu	37	20	3002719	3002719	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:3002719G>T	ENST00000216877.6	+	14	1554	c.1154G>T	c.(1153-1155)aGa>aTa	p.R385I	PTPRA_ENST00000318266.5_Missense_Mutation_p.R385I|PTPRA_ENST00000356147.3_Missense_Mutation_p.R385I|PTPRA_ENST00000358719.4_Missense_Mutation_p.R250I|PTPRA_ENST00000380393.3_Missense_Mutation_p.R394I|PTPRA_ENST00000425918.2_Missense_Mutation_p.R405I|PTPRA_ENST00000399903.2_Missense_Mutation_p.R394I	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	394	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R394I(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATGACCAACAGAAAGCCACAG	0.567																																							uc010zqd.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1213-1215)AGA>ATA		protein tyrosine phosphatase, receptor type, A							178.0	121.0	140.0					20																	3002719		2203	4300	6503	SO:0001583	missense	5786				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3002719G>T		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1154G>T	20.37:g.3002719G>T	ENSP00000216877:p.Arg385Ile					PTPRA_uc002whj.2_Missense_Mutation_p.R394I|PTPRA_uc002whk.2_Missense_Mutation_p.R385I|PTPRA_uc002whl.2_Missense_Mutation_p.R385I|PTPRA_uc002whm.2_Missense_Mutation_p.R161I|PTPRA_uc002whn.2_Missense_Mutation_p.R385I|PTPRA_uc002who.2_Missense_Mutation_p.R57I	p.R405I	NM_002836	NP_002827	P18433	PTPRA_HUMAN			14	1531	+			394			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.1214G>T	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855532	0.71719	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78;2.78	5.83	4.8	0.61643	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.054493	0.64402	U	0.000001	T	0.06690	0.0171	N	0.17082	0.46	0.80722	D	1	B;P;B	0.46142	0.034;0.873;0.361	B;B;B	0.43251	0.145;0.413;0.139	T	0.09143	-1.0688	10	0.49607	T	0.09	.	3.8365	0.08896	0.3244:0.0:0.6756:0.0	.	405;394;385	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	I	394;385;394;250;4;405;385;385	ENSP00000369756:R394I;ENSP00000216877:R385I;ENSP00000382787:R394I;ENSP00000351559:R250I;ENSP00000393553:R405I;ENSP00000314568:R385I;ENSP00000348468:R385I	ENSP00000216877:R385I	R	+	2	0	PTPRA	2950719	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.496000	0.73670	2.763000	0.94921	0.561000	0.74099	AGA		0.567	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			7	138	1	0	8.12818e-05	0.001984	9.00831e-05	7	138				
CHD6	84181	broad.mit.edu	37	20	40054003	40054003	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:40054003G>T	ENST00000373233.3	-	29	4338	c.4161C>A	c.(4159-4161)ccC>ccA	p.P1387P		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1387					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.P1387P(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AAACTGGCCAGGGCGATTTGT	0.512																																							uc002xka.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(4159-4161)CCC>CCA		chromodomain helicase DNA binding protein 6							59.0	58.0	58.0					20																	40054003		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40054003G>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4161C>A	20.37:g.40054003G>T							p.P1387P	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			29	4339	-		Myeloproliferative disorder(115;0.00425)	1387					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.4161C>A	CCDS13317.1																																																																																				0.512	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			14	36	1	0	4.7546e-09	0.004007	5.78532e-09	14	36				
UBE2V1	7335	broad.mit.edu	37	20	48700726	48700726	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:48700726G>A	ENST00000371674.3	-	3	281	c.237C>T	c.(235-237)ccC>ccT	p.P79P	TMEM189-UBE2V1_ENST00000341698.2_Silent_p.P302P|UBE2V1_ENST00000340309.3_Silent_p.P102P|UBE2V1_ENST00000420027.2_Silent_p.P35P|TMEM189_ENST00000557021.1_Silent_p.P302P|UBE2V1_ENST00000371657.5_Intron|UBE2V1_ENST00000415862.2_Silent_p.P35P|UBE2V1_ENST00000371677.3_Silent_p.P102P|UBE2V1_ENST00000396059.3_5'UTR	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1	79					cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)	p.P102P(2)|p.P302P(2)		endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			TTACAAAGGGGGGTGCTTCTG	0.358																																							uc002xvf.2		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(904-906)CCC>CCT		TMEM189-UBE2V1 readthrough transcript							97.0	108.0	104.0					20																	48700726		2203	4300	6503	SO:0001819	synonymous_variant	387522				cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein K63-linked ubiquitination|regulation of DNA repair|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-UEV1A complex|ubiquitin ligase complex	acid-amino acid ligase activity|protein binding	g.chr20:48700726G>A	U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"""Ubiquitin-conjugating enzymes E2"""	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.237C>T	20.37:g.48700726G>A						UBE2V1_uc002xvb.2_RNA|UBE2V1_uc002xva.2_Silent_p.P79P|UBE2V1_uc002xvc.2_Silent_p.P35P|UBE2V1_uc002xvd.2_Silent_p.P102P|UBE2V1_uc002xve.2_Silent_p.P102P	p.P302P	NM_199203	NP_954673	Q13404	UB2V1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;8.29e-07)		7	1067	-			79					E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Silent	SNP	ENST00000371674.3	37	c.906C>T	CCDS33483.1																																																																																				0.358	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080530.1	NM_021988		47	117	0	0	0	0.01441	0	47	117				
LAMA5	3911	broad.mit.edu	37	20	60897373	60897373	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:60897373G>A	ENST00000252999.3	-	47	6364	c.6298C>T	c.(6298-6300)Cgc>Tgc	p.R2100C		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2100	Laminin EGF-like 21. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.R2100C(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCACACTCGCGGCACTGGGGT	0.711																																							uc002ycq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(6298-6300)CGC>TGC		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						14.0	20.0	18.0					20																	60897373		2162	4271	6433	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60897373G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6298C>T	20.37:g.60897373G>A	ENSP00000252999:p.Arg2100Cys						p.R2100C	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		47	6365	-	Breast(26;1.57e-08)		2100			Laminin EGF-like 21.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.6298C>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.974026	0.74246	.	.	ENSG00000130702	ENST00000252999	T	0.61627	0.09	4.12	4.12	0.48240	EGF-like, laminin (4);	0.698184	0.14342	N	0.325641	T	0.59810	0.2221	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	P	0.57846	0.828	T	0.66464	-0.5917	10	0.87932	D	0	.	16.5839	0.84722	0.0:0.0:1.0:0.0	.	2100	O15230	LAMA5_HUMAN	C	2100	ENSP00000252999:R2100C	ENSP00000252999:R2100C	R	-	1	0	LAMA5	60330768	0.999000	0.42202	0.694000	0.30210	0.939000	0.58152	2.804000	0.47931	2.129000	0.65627	0.485000	0.47835	CGC		0.711	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		3	25	0	0	0	0.000602	0	3	25				
DSCAM	1826	broad.mit.edu	37	21	41465695	41465695	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr21:41465695C>T	ENST00000400454.1	-	21	4280	c.3803G>A	c.(3802-3804)gGa>gAa	p.G1268E		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1268	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.G1268E(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTTGCCTCTTCCGGCTGAAGT	0.488																																					Melanoma(134;970 1778 1785 21664 32388)	Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(3802-3804)GGA>GAA		Down syndrome cell adhesion molecule isoform							67.0	64.0	65.0					21																	41465695		1963	4162	6125	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41465695C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3803G>A	21.37:g.41465695C>T	ENSP00000383303:p.Gly1268Glu					DSCAM_uc002yyr.1_RNA	p.G1268E	NM_001389	NP_001380	O60469	DSCAM_HUMAN			21	4255	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1268			Fibronectin type-III 4.|Extracellular (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.3803G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616132	0.87359	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.68624	-0.34;-0.34	5.2	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88388	0.6423	H	0.97051	3.93	0.58432	D	0.999999	D	0.76494	0.999	D	0.77557	0.99	D	0.92396	0.5925	10	0.87932	D	0	.	18.7356	0.91753	0.0:1.0:0.0:0.0	.	1268	O60469	DSCAM_HUMAN	E	1268;1020	ENSP00000383303:G1268E;ENSP00000385342:G1020E	ENSP00000383303:G1268E	G	-	2	0	DSCAM	40387565	1.000000	0.71417	0.759000	0.31340	0.878000	0.50629	7.726000	0.84824	2.415000	0.81967	0.467000	0.42956	GGA		0.488	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		11	30	0	0	0	0.008291	0	11	30				
KRTAP10-9	386676	broad.mit.edu	37	21	46047658	46047658	+	Silent	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr21:46047658T>A	ENST00000397911.3	+	1	619	c.570T>A	c.(568-570)ccT>ccA	p.P190P	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	190	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.P190P(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCTGTAAGCCTGTCTGCTGCA	0.592																																							uc002zfp.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(568-570)CCT>CCA		keratin associated protein 10-9							275.0	293.0	287.0					21																	46047658		2203	4300	6503	SO:0001819	synonymous_variant	386676					keratin filament		g.chr21:46047658T>A	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.570T>A	21.37:g.46047658T>A						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.P190P	NM_198690	NP_941963	P60411	KR109_HUMAN			1	619	+			190			18.|25 X 5 AA repeats of C-C-X(3).		A2RRG1|A6NIR9|Q70LJ1	Silent	SNP	ENST00000397911.3	37	c.570T>A	CCDS42961.1																																																																																				0.592	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			178	687	0	0	0	0.01441	0	178	687				
APOBEC3G	60489	broad.mit.edu	37	22	39479863	39479863	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr22:39479863C>A	ENST00000407997.3	+	5	1066	c.709C>A	c.(709-711)Cag>Aag	p.Q237K	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.Q237K|APOBEC3G_ENST00000461827.1_3'UTR	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	237	Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Q237K(4)		central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CCTGCTGAACCAGCGCAGGGG	0.572																																							uc003awx.2		NA																	4	Substitution - Missense(4)		lung(4)	central_nervous_system(1)|skin(1)	2						c.(709-711)CAG>AAG		apolipoprotein B mRNA editing enzyme, catalytic							87.0	73.0	78.0					22																	39479863		2203	4300	6503	SO:0001583	missense	60489				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39479863C>A	AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.709C>A	22.37:g.39479863C>A	ENSP00000385057:p.Gln237Lys					APOBEC3G_uc003awy.2_Missense_Mutation_p.Q170K	p.Q237K	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN			5	1051	+	Melanoma(58;0.04)		237					B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	ENST00000407997.3	37	c.709C>A	CCDS13984.1	.	.	.	.	.	.	.	.	.	.	.	1.016	-0.686291	0.03328	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.63417	-0.04;-0.04	1.7	-3.4	0.04853	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.65270	0.2675	M	0.71581	2.175	0.09310	N	1	D	0.63046	0.992	D	0.77004	0.989	T	0.55354	-0.8154	9	0.07482	T	0.82	.	1.5756	0.02624	0.19:0.2338:0.4173:0.1589	.	237	Q9HC16	ABC3G_HUMAN	K	237	ENSP00000413376:Q237K;ENSP00000385057:Q237K	ENSP00000385057:Q237K	Q	+	1	0	APOBEC3G	37809809	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.448000	0.01009	-1.759000	0.01313	-0.274000	0.10170	CAG		0.572	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822		31	114	1	0	4.31634e-10	0.012213	5.32654e-10	31	114				
SULT4A1	25830	broad.mit.edu	37	22	44221917	44221917	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr22:44221917C>T	ENST00000330884.4	-	7	939	c.819G>A	c.(817-819)atG>atA	p.M273I	SULT4A1_ENST00000540422.1_Missense_Mutation_p.M160I	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	273					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.M273I(2)		kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CACACTTTCCCATCTTCTGTT	0.418																																							uc003bee.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(817-819)ATG>ATA		sulfotransferase family 4A, member 1							184.0	165.0	172.0					22																	44221917		2203	4300	6503	SO:0001583	missense	25830				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr22:44221917C>T	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"""Sulfotransferases, cytosolic"""	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.819G>A	22.37:g.44221917C>T	ENSP00000332565:p.Met273Ile					SULT4A1_uc003bed.1_Missense_Mutation_p.M194I|SULT4A1_uc003bef.1_RNA|SULT4A1_uc011aqb.1_Missense_Mutation_p.M160I	p.M273I	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)	7	935	-		Ovarian(80;0.024)|all_neural(38;0.0416)	273					B2R7N3|O43728	Missense_Mutation	SNP	ENST00000330884.4	37	c.819G>A	CCDS14051.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927707	0.73327	.	.	ENSG00000130540	ENST00000330884;ENST00000540422	D;D	0.84442	-1.85;-1.85	5.63	4.6	0.57074	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.89863	0.6838	M	0.66439	2.03	0.80722	D	1	P;B	0.41214	0.742;0.316	P;B	0.54544	0.755;0.144	D	0.90756	0.4661	10	0.87932	D	0	.	14.9844	0.71336	0.1437:0.8563:0.0:0.0	.	160;273	B7Z2E1;Q9BR01	.;ST4A1_HUMAN	I	273;160	ENSP00000332565:M273I;ENSP00000439141:M160I	ENSP00000332565:M273I	M	-	3	0	SULT4A1	42553250	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.642000	0.83385	1.350000	0.45770	-0.181000	0.13052	ATG		0.418	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	NM_014351		31	168	0	0	0	0.010818	0	31	168				
EFHB	151651	broad.mit.edu	37	3	19961381	19961381	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:19961381C>A	ENST00000295824.9	-	3	1101	c.940G>T	c.(940-942)Gat>Tat	p.D314Y	EFHB_ENST00000344838.4_Missense_Mutation_p.D184Y|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	314							calcium ion binding (GO:0005509)	p.D314Y(2)|p.D312Y(2)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ATCTGGGGATCATTTGCTCTT	0.333																																							uc003cbl.3		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(940-942)GAT>TAT		EF hand domain family, member B							117.0	127.0	124.0					3																	19961381		2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19961381C>A	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.940G>T	3.37:g.19961381C>A	ENSP00000295824:p.Asp314Tyr					EFHB_uc003cbm.2_Missense_Mutation_p.D184Y	p.D314Y	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN			3	1136	-			314					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.940G>T	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552920	0.65425	.	.	ENSG00000163576	ENST00000295824;ENST00000344838;ENST00000389256;ENST00000440022	T;T;T;T	0.47869	0.83;0.9;1.29;0.83	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000003	T	0.69205	0.3085	M	0.77103	2.36	0.45791	D	0.998678	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.70684	-0.4804	9	.	.	.	-27.2849	15.8916	0.79303	0.0:1.0:0.0:0.0	.	184;314	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	Y	314;184;314;51	ENSP00000295824:D314Y;ENSP00000342263:D184Y;ENSP00000373908:D314Y;ENSP00000396778:D51Y	.	D	-	1	0	EFHB	19936385	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	5.366000	0.66122	2.541000	0.85698	0.561000	0.74099	GAT		0.333	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		14	77	1	0	0.00121646	0.008871	0.00130657	14	77				
EXOG	9941	broad.mit.edu	37	3	38565414	38565414	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:38565414C>T	ENST00000287675.5	+	6	764	c.668C>T	c.(667-669)gCa>gTa	p.A223V	EXOG_ENST00000422077.2_Missense_Mutation_p.A173V|EXOG_ENST00000358249.2_Missense_Mutation_p.A83V	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	223					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A223V(2)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GACAACGTGGCAGTCCCCTCA	0.453																																							uc003cih.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(667-669)GCA>GTA		endo/exonuclease (5'-3'), endonuclease G-like							52.0	53.0	53.0					3																	38565414		2203	4300	6503	SO:0001583	missense	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38565414C>T	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.668C>T	3.37:g.38565414C>T	ENSP00000287675:p.Ala223Val					EXOG_uc010hhg.2_RNA|EXOG_uc011ayq.1_Missense_Mutation_p.A173V|EXOG_uc003cij.2_Missense_Mutation_p.A83V|EXOG_uc010hhd.2_Missense_Mutation_p.A83V|EXOG_uc010hhe.2_Missense_Mutation_p.A83V|EXOG_uc003cik.2_Missense_Mutation_p.A83V|EXOG_uc010hhf.2_Missense_Mutation_p.A83V|EXOG_uc003cii.2_Missense_Mutation_p.A83V	p.A223V	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN			6	764	+			223					A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	SNP	ENST00000287675.5	37	c.668C>T	CCDS2680.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802700	0.90623	.	.	ENSG00000157036	ENST00000287675;ENST00000358249;ENST00000422077	T;T;T	0.69806	-0.43;-0.43;-0.43	5.54	4.67	0.58626	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.064498	0.64402	D	0.000011	T	0.81317	0.4797	M	0.78344	2.41	0.46222	D	0.99893	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	D	0.83551	0.0101	10	0.59425	D	0.04	-17.6812	14.2575	0.66062	0.0:0.9293:0.0:0.0707	.	173;223	Q9Y2C4-4;Q9Y2C4	.;EXOG_HUMAN	V	223;83;173	ENSP00000287675:A223V;ENSP00000350987:A83V;ENSP00000404305:A173V	ENSP00000287675:A223V	A	+	2	0	EXOG	38540418	1.000000	0.71417	0.940000	0.37924	0.974000	0.67602	5.810000	0.69179	1.570000	0.49709	0.655000	0.94253	GCA		0.453	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		20	82	0	0	0	0.008871	0	20	82				
TRAK1	22906	broad.mit.edu	37	3	42244104	42244104	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:42244104G>T	ENST00000327628.5	+	13	2004	c.1604G>T	c.(1603-1605)aGc>aTc	p.S535I	TRAK1_ENST00000396175.1_Missense_Mutation_p.S477I|TRAK1_ENST00000341421.3_Missense_Mutation_p.S477I|TRAK1_ENST00000449246.1_Missense_Mutation_p.S461I|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	535					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.S477I(4)|p.S535I(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GAGCTGCGCAGCGGCTCCCTC	0.637																																					GBM(44;195 884 22595 31865 41850)	GBM(44;195 884 22595 31865 41850)	uc003cky.2		NA																	6	Substitution - Missense(6)		lung(6)	ovary(1)	1						c.(1603-1605)AGC>ATC		OGT(O-Glc-NAc transferase)-interacting protein							44.0	52.0	49.0					3																	42244104		2203	4300	6503	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42244104G>T		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1604G>T	3.37:g.42244104G>T	ENSP00000328998:p.Ser535Ile					TRAK1_uc011azh.1_Missense_Mutation_p.S535I|TRAK1_uc011azi.1_Missense_Mutation_p.S535I|TRAK1_uc003ckz.3_Missense_Mutation_p.S461I|TRAK1_uc011azj.1_Missense_Mutation_p.S461I|TRAK1_uc003cla.2_Missense_Mutation_p.S477I	p.S535I	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN			13	1820	+			535					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.1604G>T	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893366	0.72524	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.74	5.74	0.90152	Trafficking kinesin-binding protein domain (1);	0.090580	0.85682	D	0.000000	T	0.69015	0.3064	M	0.64170	1.965	0.41886	D	0.990349	D;D;D;D;P;D	0.63880	0.991;0.991;0.993;0.991;0.566;0.991	P;P;P;P;B;P	0.60541	0.793;0.793;0.854;0.755;0.438;0.876	T	0.70938	-0.4736	10	0.72032	D	0.01	.	18.9239	0.92537	0.0:0.0:1.0:0.0	.	461;477;535;477;461;535	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	I	535;535;461;477;477;253	ENSP00000328998:S535I;ENSP00000410717:S461I;ENSP00000379478:S477I;ENSP00000340702:S477I;ENSP00000413729:S253I	ENSP00000328998:S535I	S	+	2	0	TRAK1	42219108	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.417000	0.66423	2.715000	0.92844	0.655000	0.94253	AGC		0.637	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		18	103	1	0	9.95505e-16	0.014323	1.2831e-15	18	103				
NME6	10201	broad.mit.edu	37	3	48339978	48339978	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:48339978G>T	ENST00000452211.1	-	3	266	c.29C>A	c.(28-30)gCt>gAt	p.A10D	NME6_ENST00000426723.1_Missense_Mutation_p.A10D|NME6_ENST00000450160.1_Missense_Mutation_p.A10D|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000442597.1_Missense_Mutation_p.A10D|NME6_ENST00000426689.2_Missense_Mutation_p.A10D|NME6_ENST00000435684.1_Missense_Mutation_p.A10D|NME6_ENST00000447314.1_Intron|NME6_ENST00000415053.1_Missense_Mutation_p.A10D|NME6_ENST00000421967.1_Missense_Mutation_p.A18D|NME6_ENST00000451657.1_Missense_Mutation_p.A10D|NME6_ENST00000415644.1_Missense_Mutation_p.A10D|NME6_ENST00000444069.1_Intron			O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	10					apoptotic process (GO:0006915)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|negative regulation of cell growth (GO:0030308)|negative regulation of mitosis (GO:0045839)|UTP biosynthetic process (GO:0006228)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GAGCTGGAGAGCCTGAGGGCT	0.547																																							uc003csp.3		NA																	0					0						c.(28-30)GCT>GAT		nucleoside diphosphate kinase type 6							104.0	85.0	91.0					3																	48339978		2203	4300	6503	SO:0001583	missense	10201				anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr3:48339978G>T	AF051941	CCDS2763.1	3p21.31	2012-05-18	2012-05-18		ENSG00000172113	ENSG00000172113			20567	protein-coding gene	gene with protein product		608294	"""non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase)"""			10453732, 19852809	Standard	NM_005793		Approved	NM23-H6, IPIA-ALPHA	uc003cso.3	O75414	OTTHUMG00000133531	ENST00000452211.1:c.29C>A	3.37:g.48339978G>T	ENSP00000392352:p.Ala10Asp					NME6_uc003cso.2_Missense_Mutation_p.A18D|NME6_uc011bbh.1_Missense_Mutation_p.A10D|NME6_uc010hju.2_Intron|NME6_uc011bbi.1_Missense_Mutation_p.A10D	p.A10D	NM_005793	NP_005784	O75414	NDK6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	2	80	-			10					B4DGW7|B4DM99|Q53HM5|Q96E73|Q9BQ63	Missense_Mutation	SNP	ENST00000452211.1	37	c.29C>A		.	.	.	.	.	.	.	.	.	.	G	25.6	4.655894	0.88056	.	.	ENSG00000172113	ENST00000421967;ENST00000426689;ENST00000452211;ENST00000426723;ENST00000450160;ENST00000415644;ENST00000415053;ENST00000442597;ENST00000451657;ENST00000435684;ENST00000425930;ENST00000456495;ENST00000447724	T;T;T;T;T;T;T	0.56611	0.45;0.46;0.46;0.46;0.46;0.47;1.45	5.39	5.39	0.77823	.	1.737990	0.02948	N	0.141326	T	0.64972	0.2647	L	0.51914	1.62	0.35063	D	0.76179	P;D;B;B	0.57899	0.744;0.981;0.001;0.0	B;P;B;B	0.50490	0.271;0.642;0.004;0.001	T	0.58375	-0.7647	10	0.51188	T	0.08	-0.3953	17.0249	0.86443	0.0:0.0:1.0:0.0	.	10;10;10;10	O75414-2;O75414-3;O75414;C9J9V6	.;.;NDK6_HUMAN;.	D	18;10;10;10;10;10;10;10;10;10;10;10;17	ENSP00000416658:A18D;ENSP00000440286:A10D;ENSP00000392352:A10D;ENSP00000399582:A10D;ENSP00000406642:A10D;ENSP00000411116:A10D;ENSP00000392715:A10D	ENSP00000399582:A10D	A	-	2	0	NME6	48314982	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.801000	0.47908	2.695000	0.91970	0.655000	0.94253	GCT		0.547	NME6-005	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000346107.1	NM_005793		3	43	1	0	0.004672	0.004672	0.00495688	3	43				
CACNA1D	776	broad.mit.edu	37	3	53810712	53810712	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:53810712T>C	ENST00000350061.5	+	36	4956	c.4445T>C	c.(4444-4446)tTa>tCa	p.L1482S	CACNA1D_ENST00000540742.1_Missense_Mutation_p.L374S|CACNA1D_ENST00000288139.4_Missense_Mutation_p.L1502S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L1467S	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1482	Dihydropyridine binding. {ECO:0000250}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.L1502S(2)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCACCATTTAGATGAATTC	0.403																																							uc003dgv.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(4444-4446)TTA>TCA		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						108.0	111.0	110.0					3																	53810712		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53810712T>C	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4445T>C	3.37:g.53810712T>C	ENSP00000288133:p.Leu1482Ser					CACNA1D_uc003dgu.3_Missense_Mutation_p.L1502S|CACNA1D_uc003dgy.3_Missense_Mutation_p.L1467S|CACNA1D_uc003dgw.3_Missense_Mutation_p.L1149S|CACNA1D_uc003dgx.1_Missense_Mutation_p.L658S	p.L1482S	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	36	4608	+			1482			Dihydropyridine binding (By similarity).|Cytoplasmic (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.4445T>C	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.565153	0.86439	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;T;T	0.97598	-4.42;-4.45;-4.41;2.81;2.81	5.49	5.49	0.81192	.	0.000000	0.53938	D	0.000052	D	0.98871	0.9618	H	0.94264	3.515	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.99698	1.1003	10	0.87932	D	0	.	15.5979	0.76602	0.0:0.0:0.0:1.0	.	1467;374;1175;1482;1502	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	S	1482;1502;1467;1175;374	ENSP00000288133:L1482S;ENSP00000288139:L1502S;ENSP00000409174:L1467S;ENSP00000418014:L1175S;ENSP00000438229:L374S	ENSP00000288139:L1502S	L	+	2	0	CACNA1D	53785752	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.081000	0.62600	0.460000	0.39030	TTA		0.403	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		43	166	0	0	0	0.00874	0	43	166				
CACNA2D3	55799	broad.mit.edu	37	3	54919343	54919343	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:54919343G>T	ENST00000474759.1	+	22	1996	c.1948G>T	c.(1948-1950)Gca>Tca	p.A650S	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.A650S|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.A556S|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.A650S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	650						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A650S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TGTGTCCTTGGCAGATGAATG	0.493																																							uc003dhf.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(1948-1950)GCA>TCA		calcium channel, voltage-dependent, alpha							148.0	141.0	144.0					3																	54919343		2001	4162	6163	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54919343G>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1948G>T	3.37:g.54919343G>T	ENSP00000419101:p.Ala650Ser					CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.A556S|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.A384S|uc003dhk.1_Intron	p.A650S	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	22	1996	+			650			Extracellular (Potential).		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.1948G>T	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857984	0.91433	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	L	0.51853	1.615	0.54753	D	0.999984	P	0.41041	0.736	B	0.41202	0.35	T	0.10636	-1.0621	10	0.22109	T	0.4	0.7442	18.7597	0.91845	0.0:0.0:1.0:0.0	.	650	Q8IZS8	CA2D3_HUMAN	S	650;650;650;556;556	ENSP00000389506:A650S;ENSP00000419101:A650S;ENSP00000288197:A650S;ENSP00000417279:A556S	ENSP00000288197:A650S	A	+	1	0	CACNA2D3	54894383	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.830000	0.92063	2.873000	0.98535	0.561000	0.74099	GCA		0.493	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			17	83	1	0	1.87028e-06	0.012319	2.19884e-06	17	83				
ROBO2	6092	broad.mit.edu	37	3	77147419	77147419	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:77147419G>A	ENST00000461745.1	+	2	1216	c.316G>A	c.(316-318)Gga>Aga	p.G106R	ROBO2_ENST00000487694.3_Missense_Mutation_p.G122R|ROBO2_ENST00000332191.8_Missense_Mutation_p.G106R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	106	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.G122R(2)|p.G106R(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACCTGATGAAGGAAGCTACGT	0.517																																							uc003dpy.3		NA																	4	Substitution - Missense(4)		lung(4)	lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(316-318)GGA>AGA		roundabout, axon guidance receptor, homolog 2							105.0	107.0	106.0					3																	77147419		2051	4198	6249	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77147419G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.316G>A	3.37:g.77147419G>A	ENSP00000417164:p.Gly106Arg					ROBO2_uc003dpz.2_Missense_Mutation_p.G106R|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.G106R	p.G106R	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	2	959	+			106			Ig-like C2-type 1.|Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.316G>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988846	0.74589	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.81247	-1.47;-1.47;-1.47	5.59	5.59	0.84812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37857	U	0.001914	D	0.93035	0.7783	H	0.94771	3.58	0.51012	D	0.999904	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94469	0.7683	9	0.87932	D	0	.	19.5872	0.95495	0.0:0.0:1.0:0.0	.	122;106;106	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	R	122;122;122;106;106	ENSP00000417335:G122R;ENSP00000417164:G106R;ENSP00000327536:G106R	ENSP00000327536:G106R	G	+	1	0	ROBO2	77230109	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	9.866000	0.99616	2.628000	0.89032	0.655000	0.94253	GGA		0.517	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		27	92	0	0	0	0.003954	0	27	92				
CASR	846	broad.mit.edu	37	3	122003109	122003109	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:122003109C>A	ENST00000490131.1	+	7	2680	c.2308C>A	c.(2308-2310)Ctc>Atc	p.L770I	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.L780I|CASR_ENST00000296154.5_Missense_Mutation_p.L770I	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	770					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.L770I(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGAGGGCTCCCTCATGGCCCT	0.582																																							uc003eev.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(2308-2310)CTC>ATC		calcium-sensing receptor precursor	Cinacalcet(DB01012)						49.0	46.0	47.0					3																	122003109		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003109C>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2308C>A	3.37:g.122003109C>A	ENSP00000418685:p.Leu770Ile					CASR_uc003eew.3_Missense_Mutation_p.L780I	p.L770I	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2680	+			770			Helical; Name=5; (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2308C>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	2.766	-0.256679	0.05829	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87334	-2.24;-2.24;-2.24	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.112643	0.64402	D	0.000013	T	0.78842	0.4347	N	0.11284	0.12	0.37282	D	0.907884	P;P	0.49185	0.92;0.9	P;B	0.48368	0.575;0.357	T	0.79135	-0.1928	10	0.26408	T	0.33	.	10.7497	0.46203	0.0:0.8559:0.0:0.1441	.	780;770	E7ENE0;P41180	.;CASR_HUMAN	I	770;780;770	ENSP00000418685:L770I;ENSP00000420194:L780I;ENSP00000296154:L770I	ENSP00000296154:L770I	L	+	1	0	CASR	123485799	0.572000	0.26668	0.967000	0.41034	0.791000	0.44710	1.134000	0.31442	2.802000	0.96397	0.561000	0.74099	CTC		0.582	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		20	82	1	0	2.21704e-12	0.00278	2.75546e-12	20	82				
ALDH1L1	10840	broad.mit.edu	37	3	125877379	125877379	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:125877379C>A	ENST00000393434.2	-	3	580	c.231G>T	c.(229-231)ggG>ggT	p.G77G	ALDH1L1_ENST00000472186.1_Silent_p.G77G|U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000452905.2_Silent_p.G77G|ALDH1L1_ENST00000413612.1_5'Flank|ALDH1L1_ENST00000393431.2_Silent_p.G77G|ALDH1L1_ENST00000455064.2_Intron|ALDH1L1_ENST00000273450.3_Silent_p.G87G	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	77	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.G77G(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGAGCTCGGCCCCCAAAGCCT	0.567																																							uc003eim.1		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(229-231)GGG>GGT		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						99.0	91.0	94.0					3																	125877379		2203	4300	6503	SO:0001819	synonymous_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125877379C>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.231G>T	3.37:g.125877379C>A						ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Silent_p.G77G|ALDH1L1_uc003eio.2_5'Flank|ALDH1L1_uc010hsf.1_Silent_p.G103G|ALDH1L1_uc003eip.1_5'UTR|ALDH1L1_uc011bkj.1_Intron	p.G77G	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	3	421	-			77			GART.		B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	c.231G>T	CCDS3034.1																																																																																				0.567	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		33	142	1	0	9.21846e-06	0.013726	1.06226e-05	33	142				
MME	4311	broad.mit.edu	37	3	154858045	154858045	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:154858045G>T	ENST00000460393.1	+	10	1041	c.921G>T	c.(919-921)caG>caT	p.Q307H	MME_ENST00000360490.2_Missense_Mutation_p.Q307H|MME_ENST00000492661.1_Missense_Mutation_p.Q307H|MME_ENST00000462745.1_Missense_Mutation_p.Q307H|MME_ENST00000493237.1_Missense_Mutation_p.Q307H	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	307					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.Q307H(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CATTGGCCCAGATCCAAAATA	0.323																																							uc010hvr.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(919-921)CAG>CAT		membrane metallo-endopeptidase	Candoxatril(DB00616)						73.0	68.0	69.0					3																	154858045		2203	4298	6501	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154858045G>T		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.921G>T	3.37:g.154858045G>T	ENSP00000418525:p.Gln307His					MME_uc003fab.1_Missense_Mutation_p.Q307H|MME_uc003fac.1_Missense_Mutation_p.Q307H|MME_uc003fad.1_Missense_Mutation_p.Q307H|MME_uc003fae.1_Missense_Mutation_p.Q307H	p.Q307H	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		10	1132	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	307			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.921G>T	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	4.643	0.119551	0.08881	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	5.23	1.23	0.21249	Peptidase M13 (1);	0.908334	0.09606	N	0.779558	T	0.71685	0.3369	L	0.41492	1.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.61753	-0.6998	10	0.72032	D	0.01	-1.142	0.7185	0.00936	0.3822:0.1625:0.289:0.1664	.	307	P08473	NEP_HUMAN	H	307	ENSP00000420389:Q307H;ENSP00000418525:Q307H;ENSP00000419653:Q307H;ENSP00000417079:Q307H;ENSP00000353679:Q307H	ENSP00000353679:Q307H	Q	+	3	2	MME	156340739	0.036000	0.19791	0.177000	0.23020	0.048000	0.14542	0.318000	0.19504	0.697000	0.31718	0.655000	0.94253	CAG		0.323	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		3	18	1	0	1.024e-07	0.000602	1.23733e-07	3	18				
LINC00969	440993	broad.mit.edu	37	3	195410689	195410689	+	lincRNA	SNP	C	C	T	rs6583275	byFrequency	TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:195410689C>T	ENST00000445430.1	+	0	1886									long intergenic non-protein coding RNA 969																		CTTTGAGGTGCACTGGAGGAA	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		35599	0.1855		0.16	False		,,,				2504	0.1748						uc003fuw.2		NA																	0					0						c.(586-588)CAC>TAC		SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);																																						727956							g.chr3:195410689C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410689C>T						SDHAP2_uc003fuv.2_RNA	p.H196Y							13	1780	+									Missense_Mutation	SNP	ENST00000445430.1	37	c.586C>T																																																																																					0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	35	0	0	0	0.001168	0	4	35				
KIAA0232	9778	broad.mit.edu	37	4	6865249	6865249	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:6865249C>G	ENST00000307659.5	+	7	3595	c.3140C>G	c.(3139-3141)cCa>cGa	p.P1047R	KIAA0232_ENST00000425103.1_Missense_Mutation_p.P1047R	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1047							ATP binding (GO:0005524)	p.P1047R(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TTAAGCAATCCATTTTCACAA	0.383																																							uc003gjr.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(3139-3141)CCA>CGA		hypothetical protein LOC9778							79.0	74.0	75.0					4																	6865249		1851	4099	5950	SO:0001583	missense	9778						ATP binding	g.chr4:6865249C>G	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3140C>G	4.37:g.6865249C>G	ENSP00000303928:p.Pro1047Arg					KIAA0232_uc003gjq.3_Missense_Mutation_p.P1047R	p.P1047R	NM_014743	NP_055558	Q92628	K0232_HUMAN			7	3603	+			1047					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.3140C>G	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438368	0.43326	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.51500	0.1678	L	0.50333	1.59	0.58432	D	0.999995	P	0.38078	0.617	B	0.36289	0.221	T	0.52771	-0.8531	9	0.39692	T	0.17	-16.2862	14.4796	0.67573	0.0:0.8533:0.1467:0.0	.	1047	Q92628	K0232_HUMAN	R	1047	.	ENSP00000303928:P1047R	P	+	2	0	KIAA0232	6916150	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	4.233000	0.58651	2.765000	0.95021	0.655000	0.94253	CCA		0.383	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		23	70	0	0	0	0.00278	0	23	70				
PDS5A	23244	broad.mit.edu	37	4	39868522	39868522	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:39868522C>T	ENST00000303538.8	-	23	3140	c.2601G>A	c.(2599-2601)atG>atA	p.M867I		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.M867I(2)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CACTAACCAACATCGCTGATA	0.393																																							uc003guv.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2599-2601)ATG>ATA		PDS5, regulator of cohesion maintenance, homolog							74.0	70.0	71.0					4																	39868522		1873	4117	5990	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39868522C>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2601G>A	4.37:g.39868522C>T	ENSP00000303427:p.Met867Ile					PDS5A_uc010ifo.2_Missense_Mutation_p.M827I	p.M867I	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			23	3141	-			867						Missense_Mutation	SNP	ENST00000303538.8	37	c.2601G>A	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480113	0.26598	.	.	ENSG00000121892	ENST00000303538	T	0.63255	-0.03	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	N	0.02916	-0.46	0.80722	D	1	B	0.12013	0.005	B	0.15484	0.013	T	0.33445	-0.9868	9	.	.	.	-17.1856	19.4681	0.94951	0.0:1.0:0.0:0.0	.	867	Q29RF7	PDS5A_HUMAN	I	867	ENSP00000303427:M867I	.	M	-	3	0	PDS5A	39544917	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.874000	0.63064	2.581000	0.87130	0.655000	0.94253	ATG		0.393	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		7	37	0	0	0	0.001984	0	7	37				
RASL11B	65997	broad.mit.edu	37	4	53731759	53731759	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:53731759C>A	ENST00000248706.3	+	4	752	c.534C>A	c.(532-534)ttC>ttA	p.F178L	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1			RAS-like, family 11, member B									p.F178L(2)		autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			GCTGCTCATTCTATGAAGTGT	0.507																																							uc003gzt.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(532-534)TTC>TTA		RAS-like family 11 member B							181.0	176.0	178.0					4																	53731759		2203	4300	6503	SO:0001583	missense	65997				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr4:53731759C>A	BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.534C>A	4.37:g.53731759C>A	ENSP00000248706:p.Phe178Leu						p.F178L	NM_023940	NP_076429	Q9BPW5	RSLBB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0302)		4	714	+			178			Small GTPase-like.			Missense_Mutation	SNP	ENST00000248706.3	37	c.534C>A	CCDS3490.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884511	0.51908	.	.	ENSG00000128045	ENST00000248706	D	0.82255	-1.59	5.57	4.54	0.55810	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89729	0.6799	M	0.71581	2.175	0.58432	D	0.999999	D	0.69078	0.997	D	0.77004	0.989	D	0.90491	0.4467	10	0.72032	D	0.01	.	14.4217	0.67187	0.0:0.9166:0.0:0.0834	.	178	Q9BPW5	RSLBB_HUMAN	L	178	ENSP00000248706:F178L	ENSP00000248706:F178L	F	+	3	2	RASL11B	53426516	1.000000	0.71417	0.995000	0.50966	0.124000	0.20399	2.409000	0.44583	2.596000	0.87737	0.655000	0.94253	TTC		0.507	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	NM_023940		109	419	1	0	6.64951e-56	0.01441	9.56211e-56	109	419				
UGT2B7	7364	broad.mit.edu	37	4	69962330	69962330	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:69962330C>T	ENST00000508661.1	+	1	119	c.92C>T	c.(91-93)gCa>gTa	p.A31V	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000305231.7_Missense_Mutation_p.A31V			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	31					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.A31V(2)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GTGTGGGCAGCAGAATACAGC	0.428																																							uc003heg.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(91-93)GCA>GTA		UDP glucuronosyltransferase 2B7 precursor							144.0	146.0	146.0					4																	69962330		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962330C>T	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.92C>T	4.37:g.69962330C>T	ENSP00000427659:p.Ala31Val					UGT2B7_uc010ihq.2_Missense_Mutation_p.A31V	p.A31V	NM_001074	NP_001065	P16662	UD2B7_HUMAN			1	138	+			31					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.92C>T		.	.	.	.	.	.	.	.	.	.	C	1.544	-0.540966	0.04053	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.61627	0.09;0.09	2.54	-1.71	0.08133	.	0.275088	0.27064	U	0.021114	T	0.28300	0.0699	N	0.10733	0.035	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.002	T	0.17167	-1.0378	9	.	.	.	.	7.5607	0.27849	0.0:0.5015:0.0:0.4985	.	31;31	E9PBP8;P16662	.;UD2B7_HUMAN	V	31	ENSP00000304811:A31V;ENSP00000427659:A31V	.	A	+	2	0	UGT2B7	69996919	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.548000	0.06048	-0.368000	0.08040	0.313000	0.20887	GCA		0.428	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		15	56	0	0	0	0.004007	0	15	56				
NPFFR2	10886	broad.mit.edu	37	4	72994591	72994591	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:72994591G>A	ENST00000308744.6	+	2	687	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	NPFFR2_ENST00000395999.1_Missense_Mutation_p.G98S|NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000358749.3_Missense_Mutation_p.G95S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	197					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.G197S(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTTACTAGTTGGCATATTCTG	0.358																																							uc003hgg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(589-591)GGC>AGC		neuropeptide FF receptor 2 isoform 1							139.0	133.0	135.0					4																	72994591		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72994591G>A	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.589G>A	4.37:g.72994591G>A	ENSP00000307822:p.Gly197Ser					NPFFR2_uc010iig.1_Intron|NPFFR2_uc003hgi.2_Missense_Mutation_p.G98S|NPFFR2_uc003hgh.2_Missense_Mutation_p.G95S	p.G197S	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		2	687	+			197			Helical; Name=2; (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.589G>A	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890970	0.91889	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.35236	1.32;1.32;1.32	5.75	5.75	0.90469	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000092	T	0.55862	0.1947	L	0.55017	1.72	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.987;0.993	T	0.39482	-0.9612	10	0.20519	T	0.43	.	19.5514	0.95322	0.0:0.0:1.0:0.0	.	98;197	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	S	197;98;95	ENSP00000307822:G197S;ENSP00000379321:G98S;ENSP00000351599:G95S	ENSP00000307822:G197S	G	+	1	0	NPFFR2	73213455	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.681000	0.98653	2.708000	0.92522	0.650000	0.86243	GGC		0.358	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		29	121	0	0	0	0.012213	0	29	121				
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77230372	77230372	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:77230372G>T	ENST00000237642.6	+	2	1040	c.296G>T	c.(295-297)aGa>aTa	p.R99I	FAM47E_ENST00000515604.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_5'UTR	NM_003943.4	NP_003934.1			FAM47E-STBD1 readthrough									p.R99I(2)									GCATCATGGAGATTGCAGAAT	0.418																																							uc003hka.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(295-297)AGA>ATA		starch binding domain 1							52.0	57.0	55.0					4																	77230372		2203	4300	6503	SO:0001583	missense	8987				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding	g.chr4:77230372G>T		CCDS58908.1	4q21.1	2013-04-23			ENSG00000118804	ENSG00000118804			44667	other	readthrough							Standard	NM_001242939		Approved				OTTHUMG00000160966	ENST00000237642.6:c.296G>T	4.37:g.77230372G>T	ENSP00000237642:p.Arg99Ile					STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_5'UTR	p.R99I	NM_003943	NP_003934	O95210	STBD1_HUMAN	Lung(101;0.196)		2	542	+			99			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000237642.6	37	c.296G>T	CCDS3578.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.523115	0.27211	.	.	ENSG00000118804	ENST00000237642	T	0.25085	1.82	4.76	-2.04	0.07343	.	0.441413	0.20167	N	0.097838	T	0.12987	0.0315	L	0.34521	1.04	0.09310	N	0.999999	B	0.09022	0.002	B	0.09377	0.004	T	0.13737	-1.0498	10	0.52906	T	0.07	-0.8715	0.6768	0.00868	0.2956:0.2903:0.2495:0.1646	.	99	O95210	STBD1_HUMAN	I	99	ENSP00000237642:R99I	ENSP00000237642:R99I	R	+	2	0	STBD1	77449396	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.148000	0.10219	-0.303000	0.08856	-0.300000	0.09419	AGA		0.418	FAM47E-STBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252415.2			30	85	1	0	1.75199e-13	0.007291	2.20902e-13	30	85				
PPM1K	152926	broad.mit.edu	37	4	89183867	89183867	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:89183867G>C	ENST00000608933.1	-	7	1388	c.999C>G	c.(997-999)taC>taG	p.Y333*	PPM1K_ENST00000508256.1_Nonsense_Mutation_p.Y114*|PPM1K_ENST00000295908.7_Nonsense_Mutation_p.Y288*	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	333	PP2C-like.				protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.Y333*(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CCTCAGTACCGTACTGTATTG	0.418																																							uc003hrm.3		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(997-999)TAC>TAG		protein phosphatase 1K (PP2C domain containing)							83.0	76.0	79.0					4																	89183867		2203	4300	6503	SO:0001587	stop_gained	152926				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr4:89183867G>C	BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.999C>G	4.37:g.89183867G>C	ENSP00000477341:p.Tyr333*						p.Y333*	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	7	1389	-		Hepatocellular(203;0.114)	333			PP2C-like.		B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Nonsense_Mutation	SNP	ENST00000608933.1	37	c.999C>G	CCDS3629.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394661	0.62066	.	.	ENSG00000163644	ENST00000295908	.	.	.	4.09	-4.41	0.03590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-12.8486	11.861	0.52465	0.5996:0.0:0.4004:0.0	.	.	.	.	X	333	.	ENSP00000295908:Y333X	Y	-	3	2	PPM1K	89402891	0.108000	0.22018	0.584000	0.28653	0.045000	0.14185	-0.351000	0.07711	-0.989000	0.03485	-0.802000	0.03209	TAC		0.418	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4	NM_152542		12	42	0	0	0	0.00245	0	12	42				
RASGRF2	5924	broad.mit.edu	37	5	80388726	80388726	+	Silent	SNP	A	A	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:80388726A>C	ENST00000265080.4	+	10	1564	c.1497A>C	c.(1495-1497)acA>acC	p.T499T		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	499	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T499T(2)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCTTATTTACAAAACACTTTT	0.388																																							uc003kha.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(1495-1497)ACA>ACC		Ras protein-specific guanine							112.0	112.0	112.0					5																	80388726		2203	4300	6503	SO:0001819	synonymous_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80388726A>C	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1497A>C	5.37:g.80388726A>C						RASGRF2_uc011ctn.1_RNA	p.T499T	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	10	1497	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	499			PH 2.		B9EG89|Q9UK56	Silent	SNP	ENST00000265080.4	37	c.1497A>C	CCDS4052.1																																																																																				0.388	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		20	62	0	0	0	0.008871	0	20	62				
GPR98	84059	broad.mit.edu	37	5	89931018	89931018	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:89931018G>A	ENST00000405460.2	+	10	2023	c.1927G>A	c.(1927-1929)Gtt>Att	p.V643I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	643					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V643I(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCTTTACTGGTTACTCCAGC	0.378																																							uc003kju.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(1927-1929)GTT>ATT		G protein-coupled receptor 98 precursor							108.0	100.0	102.0					5																	89931018		1825	4087	5912	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89931018G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1927G>A	5.37:g.89931018G>A	ENSP00000384582:p.Val643Ile					GPR98_uc003kjt.2_5'UTR	p.V643I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	10	2023	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	643			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.1927G>A	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.45|11.45	1.641665|1.641665	0.29157|0.29157	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000504142|ENST00000405460;ENST00000296619;ENST00000399043	.|T	.|0.29142	.|1.58	4.97|4.97	4.1|4.1	0.47936|0.47936	.|.	.|0.184815	.|0.48286	.|D	.|0.000185	T|T	0.15132|0.15132	0.0365|0.0365	N|N	0.13235|0.13235	0.315|0.315	0.80722|0.80722	D|D	1|1	.|P	.|0.39116	.|0.66	.|B	.|0.35312	.|0.2	T|T	0.07520|0.07520	-1.0768|-1.0768	5|10	.|0.20519	.|T	.|0.43	.|.	8.684|8.684	0.34225|0.34225	0.2234:0.0:0.7766:0.0|0.2234:0.0:0.7766:0.0	.|.	.|643	.|Q8WXG9	.|GPR98_HUMAN	D|I	231|643	.|ENSP00000384582:V643I	.|ENSP00000296619:V643I	G|V	+|+	2|1	0|0	GPR98|GPR98	89966774|89966774	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.490000|2.490000	0.45294|0.45294	1.224000|1.224000	0.43551|0.43551	0.655000|0.655000	0.94253|0.94253	GGT|GTT		0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		13	40	0	0	0	0.013537	0	13	40				
PCDHA13	56136	broad.mit.edu	37	5	140261961	140261961	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:140261961C>T	ENST00000289272.2	+	1	108	c.108C>T	c.(106-108)ccC>ccT	p.P36P	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.P36P|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	36	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P36P(3)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCGTCCCCGAGGAAGCAA	0.657																																					Melanoma(147;1739 1852 5500 27947 37288)	Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(106-108)CCC>CCT		protocadherin alpha 13 isoform 1 precursor							81.0	87.0	85.0					5																	140261961		2202	4300	6502	SO:0001819	synonymous_variant	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140261961C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.108C>T	5.37:g.140261961C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.P36P|PCDHA13_uc003lid.2_Silent_p.P36P	p.P36P	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	108	+			36			Cadherin 1.|Extracellular (Potential).		O75277	Silent	SNP	ENST00000289272.2	37	c.108C>T	CCDS4240.1																																																																																				0.657	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		103	314	0	0	0	0.01441	0	103	314				
UHRF1BP1	54887	broad.mit.edu	37	6	34802159	34802159	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:34802159C>T	ENST00000192788.5	+	5	675	c.504C>T	c.(502-504)cgC>cgT	p.R168R	UHRF1BP1_ENST00000452449.2_Silent_p.R168R	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	168							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.R168R(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCTTACCCGCATCACTGACC	0.502																																							uc003oju.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(502-504)CGC>CGT		ICBP90 binding protein 1							54.0	53.0	53.0					6																	34802159		1975	4155	6130	SO:0001819	synonymous_variant	54887							g.chr6:34802159C>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.504C>T	6.37:g.34802159C>T						UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA	p.R168R	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			5	738	+			168					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.504C>T	CCDS43455.1																																																																																				0.502	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		29	79	0	0	0	0.010818	0	29	79				
SLC26A8	116369	broad.mit.edu	37	6	35922941	35922941	+	Silent	SNP	G	G	T	rs193054248		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:35922941G>T	ENST00000490799.1	-	17	2573	c.2220C>A	c.(2218-2220)gtC>gtA	p.V740V	SLC26A8_ENST00000394602.2_Silent_p.V635V|SLC26A8_ENST00000355574.2_Silent_p.V740V	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.V740V(3)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTCTTAATACGACTAACCCCC	0.512																																							uc003olm.2		NA																	3	Substitution - coding silent(3)		lung(2)|kidney(1)	ovary(2)	2						c.(2218-2220)GTC>GTA		solute carrier family 26, member 8 isoform a							103.0	95.0	98.0					6																	35922941		2203	4300	6503	SO:0001819	synonymous_variant	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35922941G>T	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2220C>A	6.37:g.35922941G>T						SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Silent_p.V322V|SLC26A8_uc003oln.2_Silent_p.V740V|SLC26A8_uc003oll.2_Silent_p.V635V	p.V740V	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN			17	2331	-			740			Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential).			Silent	SNP	ENST00000490799.1	37	c.2220C>A	CCDS4813.1																																																																																				0.512	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			45	228	1	0	9.9998e-32	0.011902	1.41461e-31	45	228				
FAM83B	222584	broad.mit.edu	37	6	54805391	54805391	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:54805391G>T	ENST00000306858.7	+	5	1738	c.1622G>T	c.(1621-1623)cGt>cTt	p.R541L	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	541				R -> S (in Ref. 4; BAB70873). {ECO:0000305}.				p.R541L(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCTCGGCTTCGTTCCTCTTTA	0.418																																							uc003pck.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)	6						c.(1621-1623)CGT>CTT		hypothetical protein LOC222584							91.0	92.0	92.0					6																	54805391		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54805391G>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1622G>T	6.37:g.54805391G>T	ENSP00000304078:p.Arg541Leu						p.R541L	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	1738	+	Lung NSC(77;0.0178)|Renal(3;0.122)		541	R -> S (in Ref. 4; BAB70873).				Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1622G>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455179	0.84209	.	.	ENSG00000168143	ENST00000306858	T	0.50277	0.75	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.65842	0.2730	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67122	-0.5750	10	0.87932	D	0	-18.1779	20.1253	0.97977	0.0:0.0:1.0:0.0	.	541	Q5T0W9	FA83B_HUMAN	L	541	ENSP00000304078:R541L	ENSP00000304078:R541L	R	+	2	0	FAM83B	54913350	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.344000	0.97050	2.832000	0.97577	0.655000	0.94253	CGT		0.418	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		8	44	1	0	7.48243e-07	0.006214	8.91742e-07	8	44				
ME1	4199	broad.mit.edu	37	6	84025069	84025069	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:84025069C>T	ENST00000369705.3	-	6	780	c.664G>A	c.(664-666)Gat>Aat	p.D222N	ME1_ENST00000543031.1_Missense_Mutation_p.D147N|ME1_ENST00000541327.1_Missense_Mutation_p.D56N	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	222					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)	p.D222N(2)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		AAAAAATCATCATATTCAGAA	0.299																																							uc003pjy.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(664-666)GAT>AAT		cytosolic malic enzyme 1	NADH(DB00157)						110.0	112.0	112.0					6																	84025069		2203	4299	6502	SO:0001583	missense	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:84025069C>T	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.664G>A	6.37:g.84025069C>T	ENSP00000358719:p.Asp222Asn					ME1_uc011dzb.1_Missense_Mutation_p.D147N|ME1_uc011dzc.1_Missense_Mutation_p.D56N	p.D222N	NM_002395	NP_002386	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	6	770	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	222					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	c.664G>A	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124232	0.56613	.	.	ENSG00000065833	ENST00000369705;ENST00000541327;ENST00000543031	T;T;T	0.44881	0.91;0.91;0.91	5.76	5.76	0.90799	Malic enzyme, N-terminal (2);	0.043838	0.85682	N	0.000000	T	0.44993	0.1320	M	0.89414	3.03	0.58432	D	0.999999	B	0.16603	0.018	B	0.28709	0.093	T	0.49390	-0.8945	10	0.56958	D	0.05	-18.8537	16.9403	0.86216	0.0:1.0:0.0:0.0	.	222	P48163	MAOX_HUMAN	N	222;56;147	ENSP00000358719:D222N;ENSP00000439912:D56N;ENSP00000446114:D147N	ENSP00000358719:D222N	D	-	1	0	ME1	84081788	1.000000	0.71417	0.968000	0.41197	0.584000	0.36387	4.006000	0.57083	2.736000	0.93811	0.644000	0.83932	GAT		0.299	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			5	27	0	0	0	0.00308	0	5	27				
TBX18	9096	broad.mit.edu	37	6	85473649	85473649	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:85473649C>A	ENST00000369663.5	-	1	588	c.251G>T	c.(250-252)gGg>gTg	p.G84V	TBX18_ENST00000606521.1_5'Flank|TBX18_ENST00000606784.1_5'Flank	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	84					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.G84V(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCGAGCCGGCCCAGACGTCGC	0.716																																							uc003pkl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|lung(1)	5						c.(250-252)GGG>GTG		T-box 18							3.0	4.0	4.0					6																	85473649		1662	3557	5219	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85473649C>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.251G>T	6.37:g.85473649C>A	ENSP00000358677:p.Gly84Val					TBX18_uc010kbq.1_5'Flank	p.G84V	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	1	251	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	84					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.251G>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	C	1.590	-0.529244	0.04112	.	.	ENSG00000112837	ENST00000369663	D	0.86694	-2.16	5.34	3.32	0.38043	.	0.887861	0.09832	N	0.750087	T	0.57330	0.2046	N	0.08118	0	0.46203	D	0.998927	B	0.18741	0.03	B	0.21360	0.034	T	0.49194	-0.8965	10	0.16420	T	0.52	.	8.7381	0.34541	0.167:0.666:0.167:0.0	.	84	O95935	TBX18_HUMAN	V	84	ENSP00000358677:G84V	ENSP00000358677:G84V	G	-	2	0	TBX18	85530368	0.889000	0.30405	0.906000	0.35671	0.197000	0.23852	1.035000	0.30216	1.222000	0.43521	0.305000	0.20034	GGG		0.716	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		3	7	1	0	3.59834e-05	0.001168	4.03942e-05	3	7				
MOXD1	26002	broad.mit.edu	37	6	132641792	132641792	+	Silent	SNP	C	C	T	rs202102392		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:132641792C>T	ENST00000367963.3	-	9	1459	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Silent_p.T379T	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	447						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.T379T(2)|p.T447T(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CTCTATCTTTCGTGTTGTAGC	0.299													C|||	1	0.000199681	0.0	0.0	5008	,	,		15895	0.0		0.001	False		,,,				2504	0.0						uc003qdf.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(1339-1341)ACG>ACA		monooxygenase, DBH-like 1 isoform 2							78.0	76.0	77.0					6																	132641792		2203	4300	6503	SO:0001819	synonymous_variant	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132641792C>T	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1341G>A	6.37:g.132641792C>T						MOXD1_uc003qde.2_Silent_p.T379T	p.T447T	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	9	1440	-	Breast(56;0.0495)		447			Lumenal (Potential).		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Silent	SNP	ENST00000367963.3	37	c.1341G>A	CCDS5152.2																																																																																				0.299	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		3	20	0	0	0	0.009096	0	3	20				
UNC93A	54346	broad.mit.edu	37	6	167717596	167717596	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:167717596G>T	ENST00000230256.3	+	5	990	c.815G>T	c.(814-816)gGa>gTa	p.G272V	UNC93A_ENST00000366829.2_Missense_Mutation_p.G230V	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G272V(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTGCAGCAAGGATTCCTCTCC	0.512																																							uc003qvq.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(814-816)GGA>GTA		unc-93 homolog A isoform 1							121.0	122.0	122.0					6																	167717596		2203	4300	6503	SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167717596G>T	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.815G>T	6.37:g.167717596G>T	ENSP00000230256:p.Gly272Val					UNC93A_uc003qvr.2_Missense_Mutation_p.G230V	p.G272V	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	5	990	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	272			Helical; (Potential).		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.815G>T	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637422	0.29157	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.15256	2.44;3.03	4.58	1.72	0.24424	Major facilitator superfamily domain, general substrate transporter (1);	0.238372	0.42682	D	0.000676	T	0.10208	0.0250	M	0.63428	1.95	0.54753	D	0.999986	P;B	0.41102	0.738;0.301	B;B	0.42282	0.382;0.15	T	0.03555	-1.1025	10	0.56958	D	0.05	-6.9555	10.179	0.42957	0.0811:0.4351:0.4838:0.0	.	230;272	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	V	272;230	ENSP00000230256:G272V;ENSP00000355794:G230V	ENSP00000230256:G272V	G	+	2	0	UNC93A	167637586	1.000000	0.71417	0.002000	0.10522	0.037000	0.13140	1.863000	0.39459	0.030000	0.15379	0.462000	0.41574	GGA		0.512	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		54	222	1	0	1.44317e-28	0.01441	2.00889e-28	54	222				
PDE1C	5137	broad.mit.edu	37	7	31876897	31876897	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr7:31876897G>T	ENST00000396191.1	-	11	1555	c.1100C>A	c.(1099-1101)gCc>gAc	p.A367D	PDE1C_ENST00000396193.1_Missense_Mutation_p.A427D|PDE1C_ENST00000396184.3_Missense_Mutation_p.A367D|PDE1C_ENST00000321453.7_Missense_Mutation_p.A367D|PDE1C_ENST00000396182.2_Missense_Mutation_p.A367D	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	367	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.A367D(4)|p.A427D(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	AAGGGATAAGGCTTTTGGCTT	0.408																																							uc003tcm.1		NA																	6	Substitution - Missense(6)		lung(6)	skin(3)|central_nervous_system(1)	4						c.(1099-1101)GCC>GAC		phosphodiesterase 1C							161.0	140.0	147.0					7																	31876897		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31876897G>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1100C>A	7.37:g.31876897G>T	ENSP00000379494:p.Ala367Asp					PDE1C_uc003tcn.1_Missense_Mutation_p.A367D|PDE1C_uc003tco.1_Missense_Mutation_p.A427D|PDE1C_uc003tcr.2_Missense_Mutation_p.A367D|PDE1C_uc003tcs.2_Missense_Mutation_p.A367D	p.A367D	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		11	1569	-			367			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1100C>A	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845257	0.91197	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	4.76	4.76	0.60689	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.099564	0.64402	D	0.000002	D	0.88647	0.6493	M	0.86343	2.81	0.80722	D	1	D;D;D	0.67145	0.968;0.985;0.996	P;P;P	0.62184	0.785;0.833;0.899	D	0.91055	0.4881	10	0.87932	D	0	.	17.7538	0.88442	0.0:0.0:1.0:0.0	.	367;427;367	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	D	427;367;367;367;367	ENSP00000379496:A427D;ENSP00000379494:A367D;ENSP00000318105:A367D;ENSP00000379487:A367D;ENSP00000379485:A367D	ENSP00000318105:A367D	A	-	2	0	PDE1C	31843422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.745000	0.98856	2.346000	0.79739	0.609000	0.83330	GCC		0.408	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			9	33	1	0	9.70103e-10	0.008291	1.18872e-09	9	33				
TYW1B	441250	broad.mit.edu	37	7	72178676	72178676	+	RNA	SNP	T	T	C	rs571257336		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr7:72178676T>C	ENST00000435769.2	-	0	1396				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GGGTACATTATTGGTTCTCCC	0.473													T|||	1	0.000199681	0.0008	0.0	5008	,	,		20422	0.0		0.0	False		,,,				2504	0.0						uc011kej.1		NA																	0					0						c.(1273-1275)ATA>GTA		tRNA-yW synthesizing protein 1 homolog B isoform							96.0	92.0	93.0					7																	72178676		692	1590	2282			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72178676T>C	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72178676T>C						TYW1B_uc011keh.1_Missense_Mutation_p.I263V|TYW1B_uc011kei.1_Missense_Mutation_p.I51V	p.I425V	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN			13	1432	-			425					A6NG09|B4DFY2|Q3KQX2	Missense_Mutation	SNP	ENST00000435769.2	37	c.1273A>G																																																																																					0.473	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		16	32	0	0	0	0.008871	0	16	32				
CSMD1	64478	broad.mit.edu	37	8	2975964	2975964	+	Silent	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:2975964A>G	ENST00000520002.1	-	43	6945	c.6390T>C	c.(6388-6390)caT>caC	p.H2130H	CSMD1_ENST00000537824.1_Silent_p.H2129H|CSMD1_ENST00000602557.1_Silent_p.H2130H|CSMD1_ENST00000602723.1_Silent_p.H2130H|CSMD1_ENST00000400186.3_Silent_p.H2130H|CSMD1_ENST00000542608.1_Silent_p.H2129H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2130	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.H1858H(2)|p.H2129H(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTTGATCCCATGCTGACAAG	0.443																																							uc011kwk.1		NA																	4	Substitution - coding silent(4)		lung(4)	breast(20)|large_intestine(5)	25						c.(6388-6390)CAT>CAC		CUB and Sushi multiple domains 1 precursor							126.0	125.0	125.0					8																	2975964		2020	4177	6197	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2975964A>G			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6390T>C	8.37:g.2975964A>G						CSMD1_uc011kwj.1_Silent_p.H1522H|CSMD1_uc010lrg.2_Silent_p.H198H	p.H2130H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	42	6780	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2130			Extracellular (Potential).|Sushi 12.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.6390T>C		.	.	.	.	.	.	.	.	.	.	G	0.327	-0.958419	0.02267	.	.	ENSG00000183117	ENST00000335551	.	.	.	4.85	-9.7	0.00521	.	.	.	.	.	T	0.70465	0.3227	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81529	-0.0891	4	.	.	.	.	20.6421	0.99549	0.3965:0.0:0.6035:0.0	.	.	.	.	R	1610	.	.	W	-	1	0	CSMD1	2963371	0.062000	0.20869	0.001000	0.08648	0.174000	0.22865	-0.337000	0.07852	-3.644000	0.00127	-2.444000	0.00210	TGG		0.443	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		19	75	0	0	0	0.006122	0	19	75				
ENTPD4	9583	broad.mit.edu	37	8	23305214	23305214	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:23305214C>A	ENST00000358689.4	-	4	626	c.391G>T	c.(391-393)Gtg>Ttg	p.V131L	ENTPD4_ENST00000417069.2_Missense_Mutation_p.V131L|ENTPD4_ENST00000356206.6_Missense_Mutation_p.V131L	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	131					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)	p.V131L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TTCATGACCACTGGCTTTCGG	0.448																																							uc003xdl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(391-393)GTG>TTG		ectonucleoside triphosphate diphosphohydrolase 4							307.0	288.0	294.0					8																	23305214		2203	4300	6503	SO:0001583	missense	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23305214C>A	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.391G>T	8.37:g.23305214C>A	ENSP00000351520:p.Val131Leu					ENTPD4_uc011kzu.1_Missense_Mutation_p.V131L|ENTPD4_uc003xdm.2_Missense_Mutation_p.V131L|ENTPD4_uc011kzv.1_Missense_Mutation_p.V131L|ENTPD4_uc011kzw.1_Missense_Mutation_p.V97L	p.V131L	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	4	555	-		Prostate(55;0.114)	131			Lumenal (Potential).		D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	c.391G>T	CCDS6041.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.661821|4.661821	0.88154|0.88154	.|.	.|.	ENSG00000197217|ENSG00000197217	ENST00000519839|ENST00000356206;ENST00000358689;ENST00000417069;ENST00000518718	.|T;T;T;T	.|0.10382	.|2.88;2.88;2.88;2.88	5.85|5.85	4.97|4.97	0.65823|0.65823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22666|0.22666	0.0547|0.0547	L|L	0.41824|0.41824	1.3|1.3	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.71674	.|0.998;0.998;0.997;0.998	.|D;D;D;D	.|0.73380	.|0.967;0.98;0.966;0.98	T|T	0.00243|0.00243	-1.1884|-1.1884	5|10	.|0.33141	.|T	.|0.24	-18.2295|-18.2295	14.1481|14.1481	0.65362|0.65362	0.0:0.9261:0.0:0.0739|0.0:0.9261:0.0:0.0739	.|.	.|131;131;131;131	.|B4DU21;Q8NE73;Q9Y227-2;Q9Y227	.|.;.;.;ENTP4_HUMAN	H|L	29|131;131;131;97	.|ENSP00000348536:V131L;ENSP00000351520:V131L;ENSP00000408573:V131L;ENSP00000429455:V97L	.|ENSP00000348536:V131L	Q|V	-|-	3|1	2|0	ENTPD4|ENTPD4	23361159|23361159	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.424000|7.424000	0.80242|0.80242	2.770000|2.770000	0.95276|0.95276	0.650000|0.650000	0.86243|0.86243	CAG|GTG		0.448	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		33	165	1	0	2.42023e-17	0.003271	3.16632e-17	33	165				
ANK1	286	broad.mit.edu	37	8	41554286	41554286	+	Silent	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:41554286A>T	ENST00000347528.4	-	25	2726	c.2643T>A	c.(2641-2643)tcT>tcA	p.S881S	ANK1_ENST00000379758.2_Silent_p.S881S|ANK1_ENST00000289734.7_Silent_p.S881S|ANK1_ENST00000265709.8_Silent_p.S922S|ANK1_ENST00000396942.1_Silent_p.S881S|ANK1_ENST00000396945.1_Silent_p.S881S|ANK1_ENST00000352337.4_Silent_p.S881S	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	881					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S881S(2)|p.S922S(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CATACTCTTTAGATGCCTGAG	0.632																																							uc003xok.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(2641-2643)TCT>TCA		ankyrin 1 isoform 1							44.0	47.0	46.0					8																	41554286		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41554286A>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2643T>A	8.37:g.41554286A>T						NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.S197S|ANK1_uc003xoi.2_Silent_p.S881S|ANK1_uc003xoj.2_Silent_p.S881S|ANK1_uc003xol.2_Silent_p.S881S|ANK1_uc003xom.2_Silent_p.S922S	p.S881S	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		25	2727	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	881					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.2643T>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	A	2.154	-0.393702	0.04899	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.67	-5.27	0.02763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8868	0.86078	0.2518:0.0:0.7482:0.0	.	.	.	.	K	203	.	.	X	-	1	0	ANK1	41673443	.	.	0.002000	0.10522	0.046000	0.14306	.	.	-0.722000	0.04922	-0.366000	0.07423	TAA		0.632	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		18	61	0	0	0	0.007413	0	18	61				
DCAF4L2	138009	broad.mit.edu	37	8	88885786	88885786	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:88885786C>A	ENST00000319675.3	-	1	510	c.414G>T	c.(412-414)ttG>ttT	p.L138F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	138								p.L138F(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGTGGGAATCCAAGTGATTCA	0.562																																							uc003ydz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(412-414)TTG>TTT		WD repeat domain 21C							101.0	95.0	97.0					8																	88885786		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885786C>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.414G>T	8.37:g.88885786C>A	ENSP00000316496:p.Leu138Phe						p.L138F	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	511	-			138						Missense_Mutation	SNP	ENST00000319675.3	37	c.414G>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960243	0.34565	.	.	ENSG00000176566	ENST00000319675	T	0.71698	-0.59	1.39	0.426	0.16479	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.112267	0.64402	D	0.000010	T	0.70876	0.3274	L	0.57536	1.79	0.27386	N	0.95529	D	0.61697	0.99	P	0.59703	0.862	T	0.59500	-0.7443	10	0.42905	T	0.14	.	3.2856	0.06931	0.0:0.5044:0.0:0.4956	.	138	Q8NA75	DC4L2_HUMAN	F	138	ENSP00000316496:L138F	ENSP00000316496:L138F	L	-	3	2	DCAF4L2	88954902	0.984000	0.35163	0.079000	0.20413	0.178000	0.23041	-0.172000	0.09868	0.750000	0.32877	0.467000	0.42956	TTG		0.562	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		46	170	1	0	6.68952e-21	0.013114	9.16517e-21	46	170				
ADCY8	114	broad.mit.edu	37	8	131792844	131792844	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:131792844G>A	ENST00000286355.5	-	18	5640	c.3548C>T	c.(3547-3549)cCa>cTa	p.P1183L	ADCY8_ENST00000377928.3_Missense_Mutation_p.P1052L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1183					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.P1183L(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAGTCTTCTTGGGGGCAAGAT	0.512										HNSCC(32;0.087)																													uc003ytd.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3547-3549)CCA>CTA		adenylate cyclase 8							156.0	165.0	162.0					8																	131792844		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131792844G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3548C>T	8.37:g.131792844G>A	ENSP00000286355:p.Pro1183Leu	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.P1052L	p.P1183L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		18	3804	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1183			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.3548C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740220	0.69304	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.79033	-1.23;-1.23	5.79	5.79	0.91817	.	0.065138	0.64402	D	0.000011	T	0.66277	0.2773	N	0.14661	0.345	0.58432	D	0.999993	B;B	0.24721	0.11;0.06	B;B	0.28638	0.092;0.01	T	0.61826	-0.6983	10	0.34782	T	0.22	.	17.1873	0.86869	0.0:0.0:1.0:0.0	.	1052;1183	E7EVL1;P40145	.;ADCY8_HUMAN	L	1183;1052	ENSP00000286355:P1183L;ENSP00000367161:P1052L	ENSP00000286355:P1183L	P	-	2	0	ADCY8	131862026	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.661000	0.98601	2.746000	0.94184	0.655000	0.94253	CCA		0.512	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			38	137	0	0	0	0.004289	0	38	137				
GALT	2592	broad.mit.edu	37	9	34648858	34648858	+	Missense_Mutation	SNP	C	C	T	rs111033762		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr9:34648858C>T	ENST00000378842.3	+	8	829	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Missense_Mutation_p.R154W|IL11RA_ENST00000555003.1_5'Flank	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	263			Missing (in GALCT).		carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)	p.R263W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GCATGTGCGGCGGCTACCTGA	0.607									Galactosemia																														uc003zve.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(787-789)CGG>TGG		galactose-1-phosphate uridylyltransferase							68.0	68.0	68.0					9																	34648858		2203	4300	6503	SO:0001583	missense	2592	Galactosemia	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	g.chr9:34648858C>T	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.787C>T	9.37:g.34648858C>T	ENSP00000368119:p.Arg263Trp					GALT_uc003zvf.2_Missense_Mutation_p.R154W|GALT_uc003zvg.2_Missense_Mutation_p.R135W|GALT_uc003zvh.2_Missense_Mutation_p.R215W|GALT_uc011lop.1_Missense_Mutation_p.R215W|IL11RA_uc003zvi.2_5'Flank	p.R263W	NM_000155	NP_000146	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	8	854	+	all_epithelial(49;0.102)		263		Missing (in GALCT).			B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	ENST00000378842.3	37	c.787C>T	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947577	0.34377	.	.	ENSG00000213930	ENST00000450095;ENST00000378842	D;D	0.99245	-5.62;-5.62	5.78	1.33	0.21861	Histidine triad motif (1);Galactose-1-phosphate uridyl transferase, C-terminal (1);Histidine triad-like motif (1);	0.000000	0.64402	U	0.000001	D	0.99369	0.9778	M	0.89478	3.035	0.50039	D	0.999845	D;P;P	0.89917	1.0;0.872;0.688	D;B;B	0.81914	0.995;0.194;0.339	D	0.99376	1.0921	9	.	.	.	-18.4266	13.9407	0.64052	0.5581:0.4419:0.0:0.0	.	215;154;263	B4DT62;E7ET32;P07902	.;.;GALT_HUMAN	W	154;263	ENSP00000401956:R154W;ENSP00000368119:R263W	.	R	+	1	2	GALT	34638858	0.926000	0.31397	0.565000	0.28409	0.745000	0.42441	1.634000	0.37123	0.332000	0.23536	0.655000	0.94253	CGG		0.607	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155		7	108	0	0	0	0.001984	0	7	108				
CTSL3P	392360	broad.mit.edu	37	9	90388511	90388511	+	RNA	SNP	C	C	T	rs138191329	byFrequency	TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr9:90388511C>T	ENST00000354530.2	+	0	377					NR_027917.1		Q5NE16	CATL3_HUMAN	cathepsin L family member 3, pseudogene								cysteine-type peptidase activity (GO:0008234)	p.P126L(2)									AGTATGTTGCCGACAATGGAG	0.458													C|||	22	0.00439297	0.0	0.0	5008	,	,		19890	0.001		0.001	False		,,,				2504	0.0204						uc004apm.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(370-372)CCG>CTG		RecName: Full=Putative cathepsin L-like protein 3;          Short=Cathepsin L-like protein; AltName: Full=HCTSL-s;		C		4,4402	8.1+/-20.4	0,4,2199	140.0	131.0	134.0			-0.4	0.0	9	dbSNP_134	134	24,8576	17.3+/-56.4	0,24,4276	no	intergenic				0,28,6475	TT,TC,CC		0.2791,0.0908,0.2153			90388511	28,12978	2203	4300	6503			392360							g.chr9:90388511C>T	AJ851862		9q21.33	2013-01-07	2013-01-07	2013-01-07	ENSG00000188029	ENSG00000188029		"""Cathepsins"""	33132	pseudogene	pseudogene			"""cathepsin L family member 3"""	CTSL3		19663681	Standard	NR_027917		Approved	HCTSL-s	uc004apm.1	Q5NE16	OTTHUMG00000020152		9.37:g.90388511C>T							p.P124L	NR_027917						3	377	+									Missense_Mutation	SNP	ENST00000354530.2	37	c.371C>T																																																																																					0.458	CTSL3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356542.1	NR_027917		33	57	0	0	0	0.013726	0	33	57				
SCAI	286205	broad.mit.edu	37	9	127818229	127818229	+	Silent	SNP	T	T	A	rs201850337		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr9:127818229T>A	ENST00000336505.6	-	3	214	c.156A>T	c.(154-156)ccA>ccT	p.P52P	SCAI_ENST00000373549.4_Silent_p.P75P	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	52	Necessary to inhibit MKL1-induced SRF transcriptional activity. {ECO:0000250}.				negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.P75P(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TCTCTCCCTGTGGGATATCAT	0.378																																							uc004bpe.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|central_nervous_system(1)	5						c.(154-156)CCA>CCT		suppressor of cancer cell invasion isoform 2							90.0	82.0	85.0					9																	127818229		1824	4078	5902	SO:0001819	synonymous_variant	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127818229T>A	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.156A>T	9.37:g.127818229T>A						SCAI_uc004bpd.2_Silent_p.P75P|SCAI_uc010mwu.2_RNA	p.P52P	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN			3	237	-			52			Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).		Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Silent	SNP	ENST00000336505.6	37	c.156A>T	CCDS48017.1																																																																																				0.378	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		16	28	0	0	0	0.004007	0	16	28				
KCNT1	57582	broad.mit.edu	37	9	138675891	138675891	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr9:138675891A>C	ENST00000263604.3	+	25	2806	c.2806A>C	c.(2806-2808)Aac>Cac	p.N936H	KCNT1_ENST00000298480.5_Missense_Mutation_p.N955H|KCNT1_ENST00000488444.2_Missense_Mutation_p.N936H|KCNT1_ENST00000486577.2_Missense_Mutation_p.N914H|KCNT1_ENST00000371757.2_Missense_Mutation_p.N955H|KCNT1_ENST00000491806.2_Missense_Mutation_p.N922H|KCNT1_ENST00000487664.1_Missense_Mutation_p.N910H|KCNT1_ENST00000490355.2_Missense_Mutation_p.N934H			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	936					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GAATGGCTCCAACCTGGCCTT	0.662																																							uc011mdq.1		NA																	0				large_intestine(2)|ovary(1)|pancreas(1)	4						c.(2863-2865)AAC>CAC		potassium channel, subfamily T, member 1							75.0	58.0	64.0					9																	138675891		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138675891A>C	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2806A>C	9.37:g.138675891A>C	ENSP00000263604:p.Asn936His					KCNT1_uc011mdr.1_Missense_Mutation_p.N782H|KCNT1_uc010nbf.2_Missense_Mutation_p.N910H|KCNT1_uc004cgo.1_Missense_Mutation_p.N704H	p.N955H	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	25	2937	+		Myeloproliferative disorder(178;0.0821)	955					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.2863A>C		.	.	.	.	.	.	.	.	.	.	A	12.66	2.003743	0.35320	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	4.18	4.18	0.49190	.	0.056818	0.64402	U	0.000003	T	0.59074	0.2167	N	0.20807	0.61	0.54753	D	0.999988	B;B;B;B	0.15719	0.014;0.011;0.01;0.006	B;B;B;B	0.24006	0.011;0.011;0.05;0.011	T	0.53236	-0.8467	10	0.18710	T	0.47	-28.564	12.5161	0.56034	1.0:0.0:0.0:0.0	.	922;955;910;936	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	H	910;955;955;914;922;936;934;936	ENSP00000417851:N910H;ENSP00000298480:N955H;ENSP00000360822:N955H;ENSP00000263604:N936H	ENSP00000263604:N936H	N	+	1	0	KCNT1	137815712	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.061000	0.93913	1.660000	0.50760	0.459000	0.35465	AAC		0.662	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		5	112	0	0	0	0.001984	0	5	112				
NOTCH1	4851	broad.mit.edu	37	9	139407481	139407481	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr9:139407481G>A	ENST00000277541.6	-	15	2534	c.2459C>T	c.(2458-2460)cCc>cTc	p.P820L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	820	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P820L(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCTGTGTAGGGCAGCAGGCA	0.637			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																													uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		4	Substitution - Missense(4)		lung(4)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(2458-2460)CCC>CTC		notch1 preproprotein							64.0	60.0	61.0					9																	139407481		1999	4164	6163	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139407481G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2459C>T	9.37:g.139407481G>A	ENSP00000277541:p.Pro820Leu	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Missense_Mutation_p.P50L	p.P820L	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	15	2459	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	820			Extracellular (Potential).|EGF-like 21; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.2459C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027356	0.75390	.	.	ENSG00000148400	ENST00000277541	D	0.92647	-3.08	4.58	4.58	0.56647	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.92691	0.7677	N	0.25890	0.77	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	D	0.92654	0.6135	10	0.39692	T	0.17	.	16.3474	0.83146	0.0:0.0:1.0:0.0	.	820	P46531	NOTC1_HUMAN	L	820	ENSP00000277541:P820L	ENSP00000277541:P820L	P	-	2	0	NOTCH1	138527302	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.255000	0.95524	2.095000	0.63458	0.455000	0.32223	CCC		0.637	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		38	74	0	0	0	0.00623	0	38	74				
IL1RAPL1	11141	broad.mit.edu	37	X	29973554	29973554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:29973554G>T	ENST00000378993.1	+	11	2381	c.1708G>T	c.(1708-1710)Gag>Tag	p.E570*	IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.E570*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	570	Interaction with NCS1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.E570*(4)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CATTACACATGAGCAGGCTTT	0.488																																							uc004dby.2		NA																	4	Substitution - Nonsense(4)		lung(4)	ovary(3)|lung(1)|pancreas(1)	5						c.(1708-1710)GAG>TAG		interleukin 1 receptor accessory protein-like 1							57.0	52.0	54.0					X																	29973554		2202	4300	6502	SO:0001587	stop_gained	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29973554G>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1708G>T	X.37:g.29973554G>T	ENSP00000368278:p.Glu570*						p.E570*	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			11	2216	+			570			Cytoplasmic (Potential).|Interaction with NCS1.		A0AVG4|Q9UJ53	Nonsense_Mutation	SNP	ENST00000378993.1	37	c.1708G>T	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	41	8.671003	0.98908	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	.	.	.	5.25	5.25	0.73442	.	0.093241	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6305	0.62191	0.0:0.151:0.849:0.0	.	.	.	.	X	570	.	.	E	+	1	0	IL1RAPL1	29883475	1.000000	0.71417	0.966000	0.40874	0.990000	0.78478	9.476000	0.97823	2.174000	0.68829	0.600000	0.82982	GAG		0.488	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		15	52	1	0	6.81908e-15	0.00245	8.72441e-15	15	52				
ITIH6	347365	broad.mit.edu	37	X	54784148	54784148	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:54784148C>A	ENST00000218436.6	-	8	2388	c.2359G>T	c.(2359-2361)Ggt>Tgt	p.G787C		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	787	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G787C(2)									GATGGAGCACCAGGTTTGGAA	0.547																																							uc004dtj.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(2359-2361)GGT>TGT		inter-alpha (globulin) inhibitor H5-like							121.0	103.0	109.0					X																	54784148		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784148C>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2359G>T	X.37:g.54784148C>A	ENSP00000218436:p.Gly787Cys						p.G787C	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	2389	-			787			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2359G>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	9.410	1.080289	0.20309	.	.	ENSG00000102313	ENST00000218436	T	0.02472	4.28	3.9	-1.21	0.09524	.	.	.	.	.	T	0.02649	0.0080	N	0.14661	0.345	0.09310	N	1	D	0.63046	0.992	P	0.49561	0.615	T	0.48885	-0.8995	9	0.59425	D	0.04	.	5.907	0.19006	0.0:0.486:0.2906:0.2233	.	787	Q6UXX5	ITH5L_HUMAN	C	787	ENSP00000218436:G787C	ENSP00000218436:G787C	G	-	1	0	ITIH5L	54800873	0.000000	0.05858	0.025000	0.17156	0.118000	0.20060	-0.152000	0.10159	0.028000	0.15324	0.462000	0.41574	GGT		0.547	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		58	195	1	0	7.10663e-31	0.01441	9.9722e-31	58	195				
ZCCHC13	389874	broad.mit.edu	37	X	73524453	73524453	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:73524453C>A	ENST00000339534.2	+	1	429	c.352C>A	c.(352-354)Ctt>Att	p.L118I		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	118							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L118I(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						TTGCGGCAAACTTGGGCACAT	0.542																																							uc004ebs.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(352-354)CTT>ATT		zinc finger, CCHC domain containing 13							86.0	69.0	75.0					X																	73524453		2203	4300	6503	SO:0001583	missense	389874						nucleic acid binding|zinc ion binding	g.chrX:73524453C>A	BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"""Zinc fingers, CCHC domain containing"""	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.352C>A	X.37:g.73524453C>A	ENSP00000345633:p.Leu118Ile						p.L118I	NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN			1	429	+			118			CCHC-type 5.			Missense_Mutation	SNP	ENST00000339534.2	37	c.352C>A	CCDS14425.1	.	.	.	.	.	.	.	.	.	.	C	7.409	0.634259	0.14322	.	.	ENSG00000187969	ENST00000339534	.	.	.	4.32	-0.947	0.10382	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.539901	0.17373	N	0.176588	T	0.17152	0.0412	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.16289	0.015	T	0.12993	-1.0526	9	0.56958	D	0.05	.	0.9049	0.01282	0.1576:0.1985:0.1595:0.4844	.	118	Q8WW36	ZCH13_HUMAN	I	118	.	ENSP00000345633:L118I	L	+	1	0	ZCCHC13	73441178	0.337000	0.24766	0.002000	0.10522	0.585000	0.36419	0.387000	0.20718	-0.269000	0.09298	-0.395000	0.06472	CTT		0.542	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057260.1	NM_203303		39	100	1	0	1.60099e-16	0.004878	2.07889e-16	39	100				
PCDH19	57526	broad.mit.edu	37	X	99663203	99663203	+	Silent	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:99663203T>A	ENST00000373034.4	-	1	2068	c.393A>T	c.(391-393)gcA>gcT	p.A131A	PCDH19_ENST00000420881.2_Silent_p.A131A|PCDH19_ENST00000255531.7_Silent_p.A131A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	131	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A131A(2)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGATCTGTGCTGCCGGGAAAC	0.577																																							uc010nmz.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(391-393)GCA>GCT		protocadherin 19 isoform b							117.0	112.0	114.0					X																	99663203		2131	4225	6356	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99663203T>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.393A>T	X.37:g.99663203T>A						PCDH19_uc004efw.3_Silent_p.A131A|PCDH19_uc004efx.3_Silent_p.A131A	p.A131A	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	2069	-			131			Cadherin 2.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.393A>T	CCDS55462.1																																																																																				0.577	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		74	333	0	0	0	0.01441	0	74	333				
COL4A6	1288	broad.mit.edu	37	X	107408255	107408255	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:107408255G>T	ENST00000372216.4	-	39	3925	c.3825C>A	c.(3823-3825)ccC>ccA	p.P1275P	COL4A6_ENST00000394872.2_Silent_p.P1275P|COL4A6_ENST00000545689.1_Silent_p.P1250P|COL4A6_ENST00000334504.7_Silent_p.P1274P|COL4A6_ENST00000538570.1_Silent_p.P1250P	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1275	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P1274P(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGGGTCCAGCGGGGCCTGGGC	0.632									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	Melanoma(87;1895 1945 2589 7165)	uc004enw.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(3823-3825)CCC>CCA		type IV alpha 6 collagen isoform A precursor							21.0	24.0	23.0					X																	107408255		2197	4295	6492	SO:0001819	synonymous_variant	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107408255G>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3825C>A	X.37:g.107408255G>T						COL4A6_uc004env.3_Silent_p.P1274P|COL4A6_uc011msn.1_Silent_p.P1250P|COL4A6_uc010npk.2_Silent_p.P1250P|COL4A6_uc010npj.2_5'Flank	p.P1275P	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			39	3928	-			1275			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.3825C>A	CCDS14541.1																																																																																				0.632	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			18	111	1	0	8.81451e-21	0.008871	1.19822e-20	18	111				
CT47B1	643311	broad.mit.edu	37	X	120008919	120008919	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:120008919G>T	ENST00000371311.3	-	1	860	c.606C>A	c.(604-606)gtC>gtA	p.V202V		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	202								p.V202V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CAGGCTCTGGGACCGACGCGG	0.706																																							uc011muc.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(604-606)GTC>GTA		cancer/testis antigen family 147, member B1							28.0	27.0	28.0					X																	120008919		692	1590	2282	SO:0001819	synonymous_variant	643311							g.chrX:120008919G>T		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.606C>A	X.37:g.120008919G>T							p.V202V	NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN			1	861	-			202					A6NM97	Silent	SNP	ENST00000371311.3	37	c.606C>A	CCDS48161.1																																																																																				0.706	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		48	175	1	0	5.57489e-27	0.01441	7.69866e-27	48	175				
ACTRT1	139741	broad.mit.edu	37	X	127185520	127185520	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:127185520G>C	ENST00000371124.3	-	1	862	c.666C>G	c.(664-666)atC>atG	p.I222M		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	222						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.I222M(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GCTCCAAGGCGATGTAGCACA	0.527																																							uc004eum.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(664-666)ATC>ATG		actin-related protein T1							138.0	129.0	132.0					X																	127185520		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185520G>C	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.666C>G	X.37:g.127185520G>C	ENSP00000360165:p.Ile222Met						p.I222M	NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN			1	863	-			222					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.666C>G	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	4.549	0.102025	0.08731	.	.	ENSG00000123165	ENST00000371124	D	0.95272	-3.66	3.48	0.77	0.18497	.	0.398101	0.20971	N	0.082391	D	0.92140	0.7508	L	0.46567	1.45	0.26267	N	0.978483	P	0.50272	0.933	P	0.53954	0.738	D	0.84915	0.0850	10	0.87932	D	0	.	0.6915	0.00892	0.3006:0.2697:0.2761:0.1537	.	222	Q8TDG2	ACTT1_HUMAN	M	222	ENSP00000360165:I222M	ENSP00000360165:I222M	I	-	3	3	ACTRT1	127013201	0.001000	0.12720	0.001000	0.08648	0.235000	0.25334	-2.006000	0.01459	0.034000	0.15491	-0.268000	0.10319	ATC		0.527	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		48	219	0	0	0	0.01441	0	48	219				
BCORL1	63035	broad.mit.edu	37	X	129154963	129154963	+	Missense_Mutation	SNP	C	C	T	rs201259468		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:129154963C>T	ENST00000218147.7	+	5	3642	c.3445C>T	c.(3445-3447)Cgg>Tgg	p.R1149W	BCORL1_ENST00000303743.5_Missense_Mutation_p.R1149W|BCORL1_ENST00000359304.2_Missense_Mutation_p.R1149W|BCORL1_ENST00000540052.1_Missense_Mutation_p.R1149W			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1149					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1149W(2)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCCACAGTGCCGGAAGCTGCC	0.547													C|||	2	0.000529801	0.0	0.0014	3775	,	,		11419	0.0		0.001	False		,,,				2504	0.0						uc004evb.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(2)|lung(1)	7						c.(3445-3447)CGG>TGG		BCL6 co-repressor-like 1							28.0	32.0	31.0					X																	129154963		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129154963C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3445C>T	X.37:g.129154963C>T	ENSP00000218147:p.Arg1149Trp					BCORL1_uc010nrd.1_Missense_Mutation_p.R1051W	p.R1149W	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			5	3559	+			1149					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3445C>T	CCDS14616.1	1|1	6.027727546714888E-4|6.027727546714888E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	14.41|14.41	2.525902|2.525902	0.44969|0.44969	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000441294|ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.|T;T;T;T;T	.|0.54279	.|0.58;0.95;0.76;0.58;1.03	6.17|6.17	4.23|4.23	0.50019|0.50019	.|.	.|0.000000	.|0.33591	.|N	.|0.004756	T|T	0.59293|0.59293	0.2183|0.2183	L|L	0.29908|0.29908	0.895|0.895	0.33615|0.33615	D|D	0.604081|0.604081	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.72625	.|0.978;0.965	T|T	0.71174|0.71174	-0.4670|-0.4670	5|10	.|0.72032	.|D	.|0.01	-16.2064|-16.2064	12.2894|12.2894	0.54810|0.54810	0.1402:0.7421:0.1178:0.0|0.1402:0.7421:0.1178:0.0	.|.	.|1149;1149	.|Q5H9F3-2;Q5H9F3	.|.;BCORL_HUMAN	L|W	584|1149;1149;1149;1149;749	.|ENSP00000218147:R1149W;ENSP00000307541:R1149W;ENSP00000352253:R1149W;ENSP00000437775:R1149W;ENSP00000399483:R749W	.|ENSP00000218147:R1149W	P|R	+|+	2|1	0|2	BCORL1|BCORL1	128982644|128982644	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.239000|0.239000	0.25481|0.25481	3.138000|3.138000	0.50570|0.50570	1.339000|1.339000	0.45563|0.45563	-0.229000|-0.229000	0.12294|0.12294	CCG|CGG		0.547	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		15	110	0	0	0	0.00499	0	15	110				
F8	2157	broad.mit.edu	37	X	154157209	154157209	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:154157209G>T	ENST00000360256.4	-	14	5056	c.4856C>A	c.(4855-4857)tCc>tAc	p.S1619Y		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1619	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.S1619Y(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGCGTTCAGGGACAAAATGGT	0.408																																							uc004fmt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(4855-4857)TCC>TAC		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						186.0	179.0	181.0					X																	154157209		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157209G>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4856C>A	X.37:g.154157209G>T	ENSP00000353393:p.Ser1619Tyr						p.S1619Y	NM_000132	NP_000123	P00451	FA8_HUMAN			14	5027	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1619			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.4856C>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	8.236	0.805728	0.16467	.	.	ENSG00000185010	ENST00000360256	D	0.99201	-5.55	5.48	3.64	0.41730	.	1.160410	0.06204	N	0.683771	D	0.97666	0.9235	L	0.50333	1.59	0.09310	N	1	B	0.32425	0.371	B	0.35312	0.2	D	0.94915	0.8068	10	0.87932	D	0	-0.098	7.0911	0.25285	0.0971:0.1673:0.7356:0.0	.	1619	P00451	FA8_HUMAN	Y	1619	ENSP00000353393:S1619Y	ENSP00000353393:S1619Y	S	-	2	0	F8	153810403	0.428000	0.25522	0.001000	0.08648	0.009000	0.06853	2.925000	0.48884	1.093000	0.41377	0.540000	0.68198	TCC		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			51	191	1	0	5.82388e-19	0.01441	7.79504e-19	51	191				
AHNAK	79026	broad.mit.edu	37	11	62293357	62293358	+	Frame_Shift_Del	DEL	GA	GA	-	rs568854946		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:62293357_62293358delGA	ENST00000378024.4	-	5	8805_8806	c.8531_8532delTC	c.(8530-8532)ctcfs	p.L2844fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2844					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGACCTGTGAGATTCAGGTC	0.436																																							uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(8530-8532)CTCfs		AHNAK nucleoprotein isoform 1																																				SO:0001589	frameshift_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62293357_62293358delGA	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8531_8532delTC	11.37:g.62293359_62293360delGA	ENSP00000367263:p.Leu2844fs					AHNAK_uc001ntk.1_Intron	p.L2844fs	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	8831_8832	-		Melanoma(852;0.155)	2844					A1A586	Frame_Shift_Del	DEL	ENST00000378024.4	37	c.8531_8532delTC	CCDS31584.1																																																																																				0.436	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		12	307	NA	NA	NA	NA	NA	12	307	---	---	---	---
TKT	7086	broad.mit.edu	37	3	53264635	53264635	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:53264635delT	ENST00000462138.1	-	8	1033	c.945delA	c.(943-945)atafs	p.I315fs	TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Frame_Shift_Del_p.I315fs|TKT_ENST00000296289.6_Frame_Shift_Del_p.I268fs|TKT_ENST00000423516.1_Frame_Shift_Del_p.I323fs			P29401	TKT_HUMAN	transketolase	315					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		TGCGGGTGGCTATCTGTGAGG	0.607																																					Colon(133;1506 2347 35238 42177)	Colon(133;1506 2347 35238 42177)	uc003dgo.2		NA																	0				ovary(2)	2						c.(943-945)ATAfs		transketolase isoform 1	Thiamine(DB00152)						53.0	51.0	51.0					3																	53264635		2203	4300	6503	SO:0001589	frameshift_variant	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53264635delT		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.945delA	3.37:g.53264635delT	ENSP00000417773:p.Ile315fs					TKT_uc003dgp.2_Translation_Start_Site|TKT_uc011beo.1_Frame_Shift_Del_p.I268fs|TKT_uc003dgq.2_Frame_Shift_Del_p.I315fs|TKT_uc011beq.1_Frame_Shift_Del_p.I323fs|TKT_uc011ber.1_Frame_Shift_Del_p.I117fs|TKT_uc011bep.1_Frame_Shift_Del_p.I232fs	p.I315fs	NM_001135055	NP_001128527	P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	8	1055	-		Prostate(884;0.0959)	315					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Frame_Shift_Del	DEL	ENST00000462138.1	37	c.945delA	CCDS2871.1																																																																																				0.607	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			27	65	NA	NA	NA	NA	NA	27	65	---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100540140	100540140	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:100540140delT	ENST00000265517.5	+	16	2430	c.2227delT	c.(2227-2229)ttafs	p.L743fs	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Frame_Shift_Del_p.L770fs|MTTP_ENST00000457717.1_Frame_Shift_Del_p.L743fs			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	743					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GGAACTTCAGTTACAATCTGG	0.363																																							uc003hvc.3		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2227-2229)TTAfs		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						119.0	122.0	121.0					4																	100540140		2203	4300	6503	SO:0001589	frameshift_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100540140delT		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2227delT	4.37:g.100540140delT	ENSP00000265517:p.Leu743fs					MTTP_uc011cej.1_Frame_Shift_Del_p.L770fs	p.L743fs	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	17	2483	+			743					A8K428|Q08AM4|Q6P5T3	Frame_Shift_Del	DEL	ENST00000265517.5	37	c.2227delT	CCDS3651.1																																																																																				0.363	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			10	55	NA	NA	NA	NA	NA	10	55	---	---	---	---
GPR151	134391	broad.mit.edu	37	5	145895330	145895333	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	CAGT	CAGT	-	-	CAGT	CAGT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:145895330_145895333delCAGT	ENST00000311104.2	-	1	420_423	c.344_347delACTG	c.(343-348)gactggfs	p.DW115fs		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGATAAACCAGTCAGAGGACTT	0.51																																					Pancreas(78;420 1386 18535 37114 49710)	Pancreas(78;420 1386 18535 37114 49710)	uc003lod.1		NA																	0				ovary(1)|pancreas(1)	2						c.(343-348)GACTGGfs		G protein-coupled receptor 151																																				SO:0001589	frameshift_variant	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145895330_145895333delCAGT	AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.344_347delACTG	5.37:g.145895330_145895333delCAGT	ENSP00000308733:p.Asp115fs						p.D115fs	NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	344_347	-			115_116			Extracellular (Potential).		Q86SN8|Q8NGV2	Frame_Shift_Del	DEL	ENST00000311104.2	37	c.344_347delACTG	CCDS34266.1																																																																																				0.510	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		7	194	NA	NA	NA	NA	NA	7	194	---	---	---	---
POF1B	79983	broad.mit.edu	37	X	84561281	84561284	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08	AGAG	AGAG	-	-	AGAG	AGAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:84561281_84561284delAGAG	ENST00000262753.4	-	12	1365_1368	c.1220_1223delCTCT	c.(1219-1224)tctcttfs	p.SL407fs	POF1B_ENST00000373145.3_Frame_Shift_Del_p.SL407fs	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	407						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TGTATGTCGAAGAGAGAGATTGTT	0.343																																							uc004eer.2		NA																	0					0						c.(1219-1224)TCTCTTfs		premature ovarian failure, 1B																																				SO:0001589	frameshift_variant	79983						actin binding	g.chrX:84561281_84561284delAGAG	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1220_1223delCTCT	X.37:g.84561285_84561288delAGAG	ENSP00000262753:p.Ser407fs					POF1B_uc004ees.2_Frame_Shift_Del_p.S407fs	p.S407fs	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN			12	1366_1369	-			407_408			Potential.		A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Frame_Shift_Del	DEL	ENST00000262753.4	37	c.1220_1223delCTCT	CCDS14452.1																																																																																				0.343	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		11	42	NA	NA	NA	NA	NA	11	42	---	---	---	---
