#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
AJAP1	55966	broad.mit.edu	37	1	4829932	4829932	+	Silent	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:4829932C>A	ENST00000378191.4	+	3	1230	c.849C>A	c.(847-849)atC>atA	p.I283I	AJAP1_ENST00000378190.3_Silent_p.I283I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	283					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TCCATCAGATCATCACCATCA	0.542																																							uc001alm.1		NA																	0				lung(1)	1						c.(847-849)ATC>ATA		adherens junction associated protein 1							215.0	197.0	203.0					1																	4829932		2203	4300	6503	SO:0001819	synonymous_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4829932C>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.849C>A	1.37:g.4829932C>A						AJAP1_uc001aln.2_Silent_p.I283I	p.I283I	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	3	1230	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	283			Helical; Signal-anchor for type III membrane protein; (Potential).		Q9Y229	Silent	SNP	ENST00000378191.4	37	c.849C>A	CCDS54.1																																																																																				0.542	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		91	114	1	0	3.06722e-38	0.00361	6.19537e-38	91	114				
CAMTA1	23261	broad.mit.edu	37	1	7723976	7723976	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:7723976C>T	ENST00000303635.7	+	9	1576	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S	CAMTA1_ENST00000439411.2_Missense_Mutation_p.P457S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GTCCATGCTGCCCACCAACGT	0.607			T	WWTR1	epitheliod hemangioendothelioma																																		uc001aoi.2		NA		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					0				ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(1369-1371)CCC>TCC		calmodulin-binding transcription activator 1							74.0	79.0	77.0					1																	7723976		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7723976C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1369C>T	1.37:g.7723976C>T	ENSP00000306522:p.Pro457Ser						p.P457S	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	1576	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	457					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.1369C>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	c	9.344	1.063730	0.20067	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.38401	1.14;1.14	5.02	5.02	0.67125	.	0.630691	0.16438	N	0.214418	T	0.23532	0.0569	N	0.19112	0.55	0.35312	D	0.783953	B	0.12630	0.006	B	0.08055	0.003	T	0.20405	-1.0276	10	0.21540	T	0.41	-21.755	11.8148	0.52204	0.0:0.9198:0.0:0.0802	.	457	Q9Y6Y1	CMTA1_HUMAN	S	457	ENSP00000306522:P457S;ENSP00000402561:P457S	ENSP00000306522:P457S	P	+	1	0	CAMTA1	7646563	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.336000	0.43938	2.349000	0.79799	0.543000	0.68304	CCC		0.607	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		11	83	0	0	0	0.008291	0	11	83				
PRAMEF6	440561	broad.mit.edu	37	1	13001288	13001288	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:13001288T>G	ENST00000376189.1	-	3	494	c.395A>C	c.(394-396)aAa>aCa	p.K132T	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.K132T	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	132					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)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		CACTGGTGTTTTGTTCCTCTT	0.493																																							uc001auq.2		NA																	0					0						c.(394-396)AAA>ACA		PRAME family member 6							402.0	669.0	574.0					1																	13001288		1510	2708	4218	SO:0001583	missense	440561							g.chr1:13001288T>G		CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.395A>C	1.37:g.13001288T>G	ENSP00000365360:p.Lys132Thr					PRAMEF5_uc001aur.2_Intron	p.K132T	NM_001010889	NP_001010889	Q5VXH4	PRAM6_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)	3	481	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	132					A0AUJ9	Missense_Mutation	SNP	ENST00000376189.1	37	c.395A>C	CCDS30594.1	.	.	.	.	.	.	.	.	.	.	.	0.018	-1.472807	0.01044	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000355096	T;T;T	0.14893	2.47;2.47;2.47	1.37	-2.73	0.05950	.	3.003100	0.01201	N	0.007597	T	0.14227	0.0344	L	0.42529	1.33	0.09310	N	1	B	0.25609	0.13	B	0.26416	0.069	T	0.17077	-1.0381	10	0.20046	T	0.44	.	3.9102	0.09199	0.0:0.2447:0.3608:0.3946	.	132	Q5VXH4	PRAM6_HUMAN	T	132	ENSP00000365360:K132T;ENSP00000401281:K132T;ENSP00000347211:K132T	ENSP00000347211:K132T	K	-	2	0	PRAMEF6	12923875	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.419000	0.07071	-2.471000	0.00529	-2.133000	0.00342	AAA		0.493	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001010889		43	729	0	0	0	0.002222	0	43	729				
PRDM2	7799	broad.mit.edu	37	1	14106289	14106289	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:14106289C>G	ENST00000235372.7	+	8	2855	c.1999C>G	c.(1999-2001)Ctt>Gtt	p.L667V	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.L466V|PRDM2_ENST00000311066.5_Missense_Mutation_p.L667V|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.L466V	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	667					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTCTTTAAGTCTTCCTCTTAG	0.453																																							uc001avi.2		NA																	0				ovary(1)	1						c.(1999-2001)CTT>GTT		retinoblastoma protein-binding zinc finger							111.0	106.0	108.0					1																	14106289		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14106289C>G	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1999C>G	1.37:g.14106289C>G	ENSP00000235372:p.Leu667Val					PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.L667V|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.L424V|PRDM2_uc001avk.2_Missense_Mutation_p.L466V|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.L667V	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	2855	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	667					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.1999C>G	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	9.622	1.134053	0.21123	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01745	4.78;4.66;4.67;4.67	5.37	3.47	0.39725	.	0.088572	0.46442	D	0.000286	T	0.03915	0.0110	M	0.65975	2.015	0.38062	D	0.936092	P;D;P;P	0.58620	0.858;0.983;0.826;0.913	P;P;B;P	0.51193	0.46;0.529;0.435;0.662	T	0.53236	-0.8467	10	0.30854	T	0.27	.	6.7072	0.23257	0.1458:0.6957:0.0:0.1585	.	667;525;667;667	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	V	667;667;667;466;466	ENSP00000235372:L667V;ENSP00000312352:L667V;ENSP00000411103:L466V;ENSP00000341621:L466V	ENSP00000235372:L667V	L	+	1	0	PRDM2	13978876	0.039000	0.19947	0.959000	0.39883	0.562000	0.35680	0.329000	0.19698	1.411000	0.46957	-0.136000	0.14681	CTT		0.453	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		29	28	0	0	0	0.007291	0	29	28				
GRHL3	57822	broad.mit.edu	37	1	24658015	24658015	+	Silent	SNP	G	G	A	rs142785065		TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:24658015G>A	ENST00000350501.5	+	2	244	c.117G>A	c.(115-117)ccG>ccA	p.P39P	GRHL3_ENST00000356046.2_De_novo_Start_InFrame|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000236255.4_Silent_p.P44P|GRHL3_ENST00000361548.4_Silent_p.P39P|GRHL3_ENST00000342072.4_De_novo_Start_InFrame	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	39	Transcription activation.				central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TAGAAAACCCGTTGACAGCTG	0.493																																							uc001biy.2		NA																	0				ovary(1)	1						c.(130-132)CCG>CCA		sister-of-mammalian grainyhead protein isoform		G	,,,	1,4405	2.1+/-5.4	0,1,2202	173.0	145.0	154.0		,132,117,117	-0.5	1.0	1	dbSNP_134	154	1,8599	1.2+/-3.3	0,1,4299	no	utr-5,coding-synonymous,coding-synonymous,coding-synonymous	GRHL3	NM_001195010.1,NM_021180.3,NM_198173.2,NM_198174.2	,,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,,	,44/608,39/603,39/627	24658015	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24658015G>A	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.117G>A	1.37:g.24658015G>A						GRHL3_uc001bix.2_Silent_p.P39P|GRHL3_uc001biz.2_Intron	p.P44P	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	2	178	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	39			Transcription activation.		A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Silent	SNP	ENST00000350501.5	37	c.132G>A	CCDS252.2																																																																																				0.493	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		14	70	0	0	0	0.001855	0	14	70				
ERMAP	114625	broad.mit.edu	37	1	43308742	43308742	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:43308742G>T	ENST00000372517.2	+	12	1511	c.1267G>T	c.(1267-1269)Gtc>Ttc	p.V423F	RP11-342M1.3_ENST00000444563.1_RNA|ERMAP_ENST00000372514.3_Missense_Mutation_p.V423F|RP11-342M1.3_ENST00000425076.1_RNA|RP11-342M1.3_ENST00000414798.1_RNA|ERMAP_ENST00000328249.3_Missense_Mutation_p.V333F|ERMAP_ENST00000487556.1_3'UTR|RP11-342M1.3_ENST00000416809.2_RNA	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	423			Missing (in Sc-3 allele).			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)				GGAATCAATTGTCCCCAGGCC	0.478																																							uc001cic.1		NA																	0				ovary(1)	1						c.(1267-1269)GTC>TTC		erythroblast membrane-associated protein							101.0	103.0	102.0					1																	43308742		2203	4300	6503	SO:0001583	missense	114625					integral to membrane|plasma membrane		g.chr1:43308742G>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.1267G>T	1.37:g.43308742G>T	ENSP00000361595:p.Val423Phe					ERMAP_uc001cid.1_RNA|ERMAP_uc001cie.1_Missense_Mutation_p.V423F|ERMAP_uc001cif.1_Missense_Mutation_p.V333F	p.V423F	NM_001017922	NP_001017922	Q96PL5	ERMAP_HUMAN			12	1537	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	423		Missing (in Sc-3 allele).	Cytoplasmic (Potential).		D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Missense_Mutation	SNP	ENST00000372517.2	37	c.1267G>T	CCDS475.1	.	.	.	.	.	.	.	.	.	.	G	3.446	-0.113029	0.06881	.	.	ENSG00000164010	ENST00000372517;ENST00000372514;ENST00000328249	T;T;T	0.54675	0.82;0.82;0.56	4.83	3.88	0.44766	.	1.555430	0.03794	N	0.263306	T	0.47284	0.1437	L	0.27053	0.805	0.09310	N	1	P	0.45283	0.855	B	0.41571	0.36	T	0.50550	-0.8815	10	0.72032	D	0.01	.	12.3761	0.55281	0.0:0.0:0.832:0.1679	.	423	Q96PL5	ERMAP_HUMAN	F	423;423;333	ENSP00000361595:V423F;ENSP00000361592:V423F;ENSP00000332439:V333F	ENSP00000332439:V333F	V	+	1	0	ERMAP	43081329	0.043000	0.20138	0.060000	0.19600	0.022000	0.10575	2.425000	0.44723	2.515000	0.84797	0.655000	0.94253	GTC		0.478	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		43	68	1	0	3.54561e-26	0.002222	6.93211e-26	43	68				
ZFYVE9	9372	broad.mit.edu	37	1	52800415	52800415	+	Silent	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:52800415C>T	ENST00000371591.1	+	14	3776	c.3645C>T	c.(3643-3645)taC>taT	p.Y1215Y	ZFYVE9_ENST00000287727.3_Silent_p.Y1215Y|ZFYVE9_ENST00000469134.1_3'UTR|ZFYVE9_ENST00000357206.2_Silent_p.Y1156Y	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1215					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CTTCTGGATACCTTGCCAAGT	0.403																																							uc001cto.2		NA																	0				ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(3643-3645)TAC>TAT		zinc finger, FYVE domain containing 9 isoform 3							155.0	141.0	145.0					1																	52800415		2203	4300	6503	SO:0001819	synonymous_variant	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52800415C>T	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3645C>T	1.37:g.52800415C>T						ZFYVE9_uc001ctp.2_Silent_p.Y1156Y	p.Y1215Y	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			15	3817	+			1215					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	ENST00000371591.1	37	c.3645C>T	CCDS563.1																																																																																				0.403	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		28	55	0	0	0	0.00632	0	28	55				
ORC1	4998	broad.mit.edu	37	1	52867035	52867035	+	Splice_Site	SNP	A	A	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:52867035A>G	ENST00000371568.3	-	3	440	c.222T>C	c.(220-222)gaT>gaC	p.D74D	ORC1_ENST00000371566.1_Splice_Site_p.D74D	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	74	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAAACTCACCATCTTCGAACA	0.438																																							uc001ctt.2		NA																	0					0						c.(220-222)GAT>GAC		origin recognition complex, subunit 1							216.0	199.0	205.0					1																	52867035		2203	4300	6503	SO:0001630	splice_region_variant	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52867035A>G		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.223+1T>C	1.37:g.52867035A>G						ORC1L_uc010oni.1_Silent_p.D74D|ORC1L_uc001ctu.2_Silent_p.D74D|ORC1L_uc009vzd.2_Intron	p.D74D	NM_004153	NP_004144	Q13415	ORC1_HUMAN			3	441	-			74			BAH.		D3DQ34|Q13471|Q5T0F5	Silent	SNP	ENST00000371568.3	37	c.222T>C	CCDS566.1																																																																																				0.438	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153	Silent	16	107	0	0	0	0.004007	0	16	107				
ZCCHC11	23318	broad.mit.edu	37	1	52926859	52926859	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:52926859C>A	ENST00000371544.3	-	19	3530	c.3268G>T	c.(3268-3270)Gct>Tct	p.A1090S	ZCCHC11_ENST00000371541.1_5'Flank|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.A1090S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1090					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GGATCAATAGCTGCATAAGTA	0.279																																							uc001ctx.2		NA																	0				ovary(2)|skin(1)	3						c.(3268-3270)GCT>TCT		zinc finger, CCHC domain containing 11 isoform							108.0	107.0	108.0					1																	52926859		2203	4289	6492	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52926859C>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3268G>T	1.37:g.52926859C>A	ENSP00000360599:p.Ala1090Ser					ZCCHC11_uc001cty.2_Missense_Mutation_p.A1090S|ZCCHC11_uc001ctz.2_Missense_Mutation_p.A1090S|ZCCHC11_uc009vze.1_Missense_Mutation_p.A1090S|ZCCHC11_uc009vzf.1_Missense_Mutation_p.A849S|ZCCHC11_uc001cua.1_Missense_Mutation_p.A7S	p.A1090S	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			19	3502	-			1090					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.3268G>T	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673387	0.88445	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.43294	0.95;0.95;1.0;1.01	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.49098	0.1537	N	0.13327	0.33	0.80722	D	1	P;D	0.89917	0.598;1.0	B;D	0.83275	0.396;0.996	T	0.37549	-0.9701	10	0.17832	T	0.49	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	849;1090	E9PKX1;Q5TAX3	.;TUT4_HUMAN	S	1090;1090;1019;849	ENSP00000257177:A1090S;ENSP00000360599:A1090S;ENSP00000433486:A1019S;ENSP00000435256:A849S	ENSP00000257177:A1090S	A	-	1	0	ZCCHC11	52699447	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.873000	0.98535	0.563000	0.77884	GCT		0.279	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		37	43	1	0	1.15183e-24	0.002222	2.20949e-24	37	43				
MROH7	374977	broad.mit.edu	37	1	55144499	55144499	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:55144499C>T	ENST00000421030.2	+	11	2306	c.2021C>T	c.(2020-2022)cCg>cTg	p.P674L	MROH7_ENST00000395690.2_Missense_Mutation_p.P674L|MROH7_ENST00000545244.1_Missense_Mutation_p.P242L|MROH7_ENST00000339553.5_Missense_Mutation_p.P674L|MROH7_ENST00000409996.1_Missense_Mutation_p.P242L|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.P674L|MROH7_ENST00000454855.2_Missense_Mutation_p.P192L	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	674						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CCTGTGAGCCCGTGCCAGAAC	0.587																																							uc010ooe.1		NA																	0					0						c.(2020-2022)CCG>CTG		hypothetical protein LOC374977							81.0	87.0	85.0					1																	55144499		1963	4146	6109	SO:0001583	missense	374977					integral to membrane	binding	g.chr1:55144499C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2021C>T	1.37:g.55144499C>T	ENSP00000396622:p.Pro674Leu					C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.P242L|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.P192L|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.P674L|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	p.P674L	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			11	2345	+			674					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.2021C>T	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320470	0.41096	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	5.05	5.05	0.67936	.	0.318222	0.22990	N	0.053205	T	0.43831	0.1265	L	0.48362	1.52	0.49798	D	0.999821	D;P;B	0.89917	1.0;0.891;0.239	D;B;B	0.87578	0.998;0.217;0.023	T	0.16897	-1.0387	10	0.07482	T	0.82	-5.1998	13.939	0.64043	0.0:1.0:0.0:0.0	.	674;674;242	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	L	674;242;703;674;242;192;674	ENSP00000396622:P674L;ENSP00000442333:P242L;ENSP00000343211:P674L;ENSP00000387048:P242L;ENSP00000401130:P192L;ENSP00000379044:P674L	ENSP00000343211:P674L	P	+	2	0	HEATR8	54917087	0.983000	0.35010	0.992000	0.48379	0.809000	0.45718	3.364000	0.52328	2.338000	0.79540	0.563000	0.77884	CCG		0.587	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		15	36	0	0	0	0.004007	0	15	36				
LRRC7	57554	broad.mit.edu	37	1	70300548	70300548	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:70300548G>C	ENST00000035383.5	+	4	502	c.472G>C	c.(472-474)Gga>Cga	p.G158R	LRRC7_ENST00000370958.1_Missense_Mutation_p.G196R|LRRC7_ENST00000310961.5_Missense_Mutation_p.G163R|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	158						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGCCAATTTTGGAAGGTAAGA	0.388																																							uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(472-474)GGA>CGA		leucine rich repeat containing 7							113.0	107.0	109.0					1																	70300548		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70300548G>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.472G>C	1.37:g.70300548G>C	ENSP00000035383:p.Gly158Arg					LRRC7_uc001deo.1_Missense_Mutation_p.G196R|LRRC7_uc009wbg.2_5'UTR	p.G158R	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			4	502	+			158			LRR 6.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.472G>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110453	0.77210	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.53206	1.77;0.63;1.75	5.24	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.66127	0.2758	M	0.88450	2.955	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.955	T	0.75141	-0.3422	10	0.72032	D	0.01	.	14.2432	0.65971	0.0:0.0:0.8496:0.1504	.	158;196	Q96NW7;B1AKT2	LRRC7_HUMAN;.	R	163;196;158;158	ENSP00000309245:G163R;ENSP00000359997:G196R;ENSP00000035383:G158R	ENSP00000035383:G158R	G	+	1	0	LRRC7	70073136	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.348000	0.79366	1.330000	0.45394	0.655000	0.94253	GGA		0.388	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		17	32	0	0	0	0.00499	0	17	32				
LPHN2	23266	broad.mit.edu	37	1	82409007	82409007	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:82409007A>T	ENST00000370728.1	+	8	1397	c.752A>T	c.(751-753)cAt>cTt	p.H251L	LPHN2_ENST00000370713.1_Missense_Mutation_p.H251L|LPHN2_ENST00000319517.6_Missense_Mutation_p.H251L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.H251L|LPHN2_ENST00000370730.1_Missense_Mutation_p.H251L|LPHN2_ENST00000359929.3_Missense_Mutation_p.H251L|LPHN2_ENST00000370721.1_Missense_Mutation_p.H255L|LPHN2_ENST00000335786.5_Missense_Mutation_p.H251L|LPHN2_ENST00000370727.1_Missense_Mutation_p.H251L|LPHN2_ENST00000370715.1_Missense_Mutation_p.H251L|LPHN2_ENST00000370717.2_Missense_Mutation_p.H251L|LPHN2_ENST00000394879.1_Missense_Mutation_p.H251L|LPHN2_ENST00000370725.1_Missense_Mutation_p.H251L|LPHN2_ENST00000370723.1_Missense_Mutation_p.H251L			O95490	LPHN2_HUMAN	latrophilin 2	251	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GCCAACTACCATGATACCTCA	0.403																																							uc001dit.3		NA																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(751-753)CAT>CTT		latrophilin 2 precursor							128.0	125.0	126.0					1																	82409007		2203	4299	6502	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82409007A>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.752A>T	1.37:g.82409007A>T	ENSP00000359763:p.His251Leu					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.H251L|LPHN2_uc001div.2_Missense_Mutation_p.H251L|LPHN2_uc009wcd.2_Missense_Mutation_p.H251L	p.H251L	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	6	933	+			251			Extracellular (Potential).|Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.752A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.01|17.01	3.280616|3.280616	0.59758|0.59758	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89050|.	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46|.	5.52|5.52	4.4|4.4	0.53042|0.53042	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58509|0.58509	0.2127|0.2127	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.72982|.	0.979;0.96;0.979|.	T|T	0.59736|0.59736	-0.7398|-0.7398	10|5	0.87932|.	D|.	0|.	.|.	11.2738|11.2738	0.49155|0.49155	0.9286:0.0:0.0714:0.0|0.9286:0.0:0.0714:0.0	.|.	251;251;251|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	L|L	255;251;251;251;251;251;251;251;251;251;251;251;251;251|119	ENSP00000359756:H255L;ENSP00000359763:H251L;ENSP00000359765:H251L;ENSP00000359762:H251L;ENSP00000359760:H251L;ENSP00000359758:H251L;ENSP00000353006:H251L;ENSP00000359750:H251L;ENSP00000359748:H251L;ENSP00000322270:H251L;ENSP00000359752:H251L;ENSP00000378344:H251L;ENSP00000271029:H251L;ENSP00000337306:H251L|.	ENSP00000271029:H251L|.	H|M	+|+	2|1	0|0	LPHN2|LPHN2	82181595|82181595	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	8.962000|8.962000	0.93254|0.93254	0.934000|0.934000	0.37316|0.37316	0.374000|0.374000	0.22700|0.22700	CAT|ATG		0.403	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		12	46	0	0	0	0.000978	0	12	46				
S1PR1	1901	broad.mit.edu	37	1	101704965	101704965	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:101704965G>T	ENST00000305352.6	+	2	800	c.425G>T	c.(424-426)cGc>cTc	p.R142L	RP4-575N6.4_ENST00000432195.1_RNA|S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	142					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCCATTGAGCGCTATATCACA	0.547											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001dud.2		NA																	0				ovary(2)|lung(1)	3						c.(424-426)CGC>CTC		sphingosine-1-phosphate receptor 1							92.0	87.0	88.0					1																	101704965		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101704965G>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.425G>T	1.37:g.101704965G>T	ENSP00000305416:p.Arg142Leu		OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	S1PR1_uc009weg.2_Missense_Mutation_p.R142L	p.R142L	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	939	+			142			Cytoplasmic (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.425G>T	CCDS777.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873641	0.91664	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	D	0.97161	-4.27	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99100	1.0843	10	0.87932	D	0	.	19.6379	0.95744	0.0:0.0:1.0:0.0	.	142	P21453	S1PR1_HUMAN	L	142	ENSP00000305416:R142L	ENSP00000305416:R142L	R	+	2	0	S1PR1	101477553	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.869000	0.99810	2.640000	0.89533	0.455000	0.32223	CGC		0.547	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		41	86	1	0	2.47872e-24	0.002522	4.72507e-24	41	86				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																							uc001end.3		NA																	5	Substitution - Missense(5)		skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)		0						c.(10588-10590)GAA>AAA		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.E3530K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10623	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10588G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	46	0	0	0	0.000602	0	5	46				
THEM5	284486	broad.mit.edu	37	1	151820257	151820257	+	Silent	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:151820257G>T	ENST00000368817.5	-	5	788	c.657C>A	c.(655-657)atC>atA	p.I219I	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	219					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTGTGGGCGATGCAGGACA	0.582																																							uc009wnd.2		NA																	0				ovary(1)|skin(1)	2						c.(655-657)ATC>ATA		thioesterase superfamily member 5							126.0	116.0	120.0					1																	151820257		2203	4300	6503	SO:0001819	synonymous_variant	284486						hydrolase activity	g.chr1:151820257G>T	AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.657C>A	1.37:g.151820257G>T							p.I219I	NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		5	789	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		219					Q5T1C3	Silent	SNP	ENST00000368817.5	37	c.657C>A	CCDS1005.1	.	.	.	.	.	.	.	.	.	.	G	0.378	-0.930109	0.02359	.	.	ENSG00000196407	ENST00000453881	.	.	.	5.19	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.2858	7.4251	0.27094	0.2627:0.0:0.7373:0.0	.	.	.	.	X	166	.	.	S	-	2	0	THEM5	150086881	0.000000	0.05858	0.005000	0.12908	0.300000	0.27592	0.056000	0.14256	0.217000	0.20800	-0.136000	0.14681	TCG		0.582	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2	NM_182578		18	41	1	0	4.35082e-09	0.001523	6.41062e-09	18	41				
FLG2	388698	broad.mit.edu	37	1	152324012	152324012	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:152324012G>T	ENST00000388718.5	-	3	6322	c.6250C>A	c.(6250-6252)Cac>Aac	p.H2084N	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2084					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCAGAGTGAGCATGTCTA	0.532																																							uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(6250-6252)CAC>AAC		filaggrin family member 2							536.0	475.0	495.0					1																	152324012		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324012G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6250C>A	1.37:g.152324012G>T	ENSP00000373370:p.His2084Asn					uc001ezv.2_Intron	p.H2084N	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6323	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2084					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6250C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	8.126	0.782089	0.16189	.	.	ENSG00000143520	ENST00000388718	T	0.03689	3.84	4.69	0.207	0.15214	.	.	.	.	.	T	0.00998	0.0033	L	0.43152	1.355	0.09310	N	1	B	0.31193	0.312	B	0.24394	0.053	T	0.45234	-0.9275	9	0.18276	T	0.48	.	8.9171	0.35587	0.0:0.4611:0.3796:0.1594	.	2084	Q5D862	FILA2_HUMAN	N	2084	ENSP00000373370:H2084N	ENSP00000373370:H2084N	H	-	1	0	FLG2	150590636	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.173000	0.09854	0.274000	0.22072	-0.196000	0.12772	CAC		0.532	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		100	356	1	0	7.47877e-49	0.00361	1.53089e-48	100	356				
DCST2	127579	broad.mit.edu	37	1	155006119	155006119	+	Missense_Mutation	SNP	G	G	A	rs200996276		TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:155006119G>A	ENST00000368424.3	-	1	117	c.59C>T	c.(58-60)gCg>gTg	p.A20V	DCST1_ENST00000392480.1_5'Flank|DCST2_ENST00000295536.5_Missense_Mutation_p.A20V|DCST1_ENST00000295542.1_5'Flank|DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000423025.2_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	20						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CACAGCTCTCGCCATGCTAGG	0.602																																							uc001fgm.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(58-60)GCG>GTG		DC-STAMP domain containing 2		G	VAL/ALA	0,4406		0,0,2203	70.0	67.0	68.0		59	1.4	0.0	1		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	DCST2	NM_144622.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	20/774	155006119	1,13005	2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:155006119G>A	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.59C>T	1.37:g.155006119G>A	ENSP00000357409:p.Ala20Val					DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank	p.A20V	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	139	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		20			Cytoplasmic (Potential).		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.59C>T	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450340	0.26074	0.0	1.16E-4	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.25085	1.82;1.87	5.59	1.37	0.22104	.	1.491450	0.04211	N	0.331668	T	0.07324	0.0185	L	0.44542	1.39	0.09310	N	1	B	0.22211	0.066	B	0.12156	0.007	T	0.26503	-1.0101	10	0.26408	T	0.33	-7.4424	4.1728	0.10337	0.0902:0.3898:0.383:0.137	.	20	Q5T1A1	DCST2_HUMAN	V	20	ENSP00000357409:A20V;ENSP00000295536:A20V	ENSP00000295536:A20V	A	-	2	0	DCST2	153272743	0.000000	0.05858	0.002000	0.10522	0.119000	0.20118	0.672000	0.25187	0.699000	0.31761	0.561000	0.74099	GCG		0.602	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		28	60	0	0	0	0.00632	0	28	60				
NCSTN	23385	broad.mit.edu	37	1	160324028	160324028	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:160324028C>G	ENST00000294785.5	+	11	1425	c.1300C>G	c.(1300-1302)Cga>Gga	p.R434G	NCSTN_ENST00000368063.1_Missense_Mutation_p.R414G|NCSTN_ENST00000368065.4_Missense_Mutation_p.R176G|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.R414G|NCSTN_ENST00000535857.1_Missense_Mutation_p.R296G	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	434					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTTCGAGCTCGAAACATCTC	0.522																																							uc001fvx.2		NA																	0				ovary(1)|lung(1)	2						c.(1300-1302)CGA>GGA		nicastrin precursor							185.0	148.0	160.0					1																	160324028		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160324028C>G	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1300C>G	1.37:g.160324028C>G	ENSP00000294785:p.Arg434Gly					NCSTN_uc001fvy.2_Missense_Mutation_p.R414G|NCSTN_uc010pjf.1_Missense_Mutation_p.R296G|NCSTN_uc001fvz.2_Missense_Mutation_p.R214G|NCSTN_uc010pjg.1_Missense_Mutation_p.R176G	p.R434G	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		11	1424	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		434			Extracellular (Potential).		Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.1300C>G	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855350	0.51376	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000535857;ENST00000368067;ENST00000392212;ENST00000368065;ENST00000424754	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.3	5.3	0.74995	.	0.136604	0.49305	D	0.000143	T	0.53206	0.1782	L	0.52011	1.625	0.54753	D	0.999988	P;B;B	0.45240	0.854;0.077;0.095	B;B;B	0.37833	0.259;0.026;0.03	T	0.56318	-0.7999	10	0.27082	T	0.32	-1.0632	17.5256	0.87799	0.0:1.0:0.0:0.0	.	296;414;434	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	G	434;414;296;141;414;176;178	ENSP00000294785:R434G;ENSP00000357042:R414G;ENSP00000442605:R296G;ENSP00000376047:R414G;ENSP00000357044:R176G;ENSP00000410124:R178G	ENSP00000294785:R434G	R	+	1	2	NCSTN	158590652	0.970000	0.33590	1.000000	0.80357	0.999000	0.98932	3.473000	0.53122	2.499000	0.84300	0.655000	0.94253	CGA		0.522	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		17	85	0	0	0	0.00499	0	17	85				
CD84	8832	broad.mit.edu	37	1	160523270	160523270	+	Missense_Mutation	SNP	G	G	T	rs200833169		TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:160523270G>T	ENST00000311224.4	-	4	724	c.658C>A	c.(658-660)Cgt>Agt	p.R220S	RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Missense_Mutation_p.R106S|CD84_ENST00000368051.3_Missense_Mutation_p.R220S|CD84_ENST00000368048.3_Missense_Mutation_p.R220S|CD84_ENST00000368054.3_Missense_Mutation_p.R220S|CD84_ENST00000368047.3_5'Flank	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	220					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGTGAGTACGGAAGCCCATT	0.493																																							uc001fwh.3		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(658-660)CGT>AGT		CD84 molecule							111.0	104.0	106.0					1																	160523270		2203	4300	6503	SO:0001583	missense	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160523270G>T	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.658C>A	1.37:g.160523270G>T	ENSP00000312367:p.Arg220Ser					CD84_uc001fwf.3_Missense_Mutation_p.R220S|CD84_uc001fwg.3_Missense_Mutation_p.R220S|CD84_uc009wtn.2_Missense_Mutation_p.R220S|CD84_uc001fwi.3_Missense_Mutation_p.R106S|CD84_uc001fwj.2_Missense_Mutation_p.R220S	p.R220S	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		4	682	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		220			Extracellular (Potential).		B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	c.658C>A	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784415	0.31593	.	.	ENSG00000066294	ENST00000534968;ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056	T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19	4.83	-0.973	0.10297	.	3.279280	0.00887	N	0.002187	T	0.11239	0.0274	L	0.43152	1.355	0.09310	N	1	P;P;P;P;P;P	0.45428	0.811;0.6;0.6;0.858;0.657;0.6	B;B;B;B;B;B	0.37451	0.193;0.193;0.203;0.18;0.25;0.145	T	0.08146	-1.0736	10	0.51188	T	0.08	1.6835	2.5767	0.04808	0.0907:0.3009:0.3008:0.3076	.	220;220;106;220;220;220	Q9UIB8-5;Q9UIB8-4;Q9UIB8-7;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	S	106;220;220;220;220;220	ENSP00000442845:R106S;ENSP00000357033:R220S;ENSP00000357027:R220S;ENSP00000312367:R220S;ENSP00000357030:R220S;ENSP00000353163:R220S	ENSP00000312367:R220S	R	-	1	0	CD84	158789894	0.002000	0.14202	0.000000	0.03702	0.015000	0.08874	0.506000	0.22658	0.027000	0.15297	0.650000	0.86243	CGT		0.493	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		17	51	1	0	3.41278e-10	0.00499	5.1786e-10	17	51				
ZNF648	127665	broad.mit.edu	37	1	182026538	182026538	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:182026538G>T	ENST00000339948.3	-	2	815	c.608C>A	c.(607-609)aCg>aAg	p.T203K		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TGTCTCTTGCGTGGGAAGGTC	0.592																																					NSCLC(71;908 1374 5429 20458 35642)	NSCLC(71;908 1374 5429 20458 35642)	uc001goz.2		NA																	0				ovary(1)	1						c.(607-609)ACG>AAG		zinc finger protein 648							38.0	44.0	42.0					1																	182026538		2203	4300	6503	SO:0001583	missense	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026538G>T	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.608C>A	1.37:g.182026538G>T	ENSP00000344129:p.Thr203Lys						p.T203K	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN			2	816	-			203					B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	c.608C>A	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688297	0.48097	.	.	ENSG00000179930	ENST00000339948	T	0.06528	3.29	2.18	2.18	0.27775	.	.	.	.	.	T	0.03915	0.0110	L	0.27053	0.805	0.09310	N	1	P	0.38827	0.649	B	0.28916	0.096	T	0.40194	-0.9576	9	0.19147	T	0.46	.	10.4426	0.44474	0.0:0.0:1.0:0.0	.	203	Q5T619	ZN648_HUMAN	K	203	ENSP00000344129:T203K	ENSP00000344129:T203K	T	-	2	0	ZNF648	180293161	0.000000	0.05858	0.007000	0.13788	0.012000	0.07955	-0.003000	0.12901	1.525000	0.49052	0.655000	0.94253	ACG		0.592	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		21	18	1	0	0.00121646	0.008871	0.00151437	21	18				
MARK1	4139	broad.mit.edu	37	1	220824025	220824025	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:220824025G>A	ENST00000366917.4	+	14	1800	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N	MARK1_ENST00000402574.1_Missense_Mutation_p.D377N|MARK1_ENST00000366918.4_Missense_Mutation_p.D490N					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AAGGACCACAGATCGATACGT	0.383																																							uc001hmn.3		NA																	0				ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(1534-1536)GAT>AAT		MAP/microtubule affinity-regulating kinase 1							176.0	157.0	164.0					1																	220824025		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220824025G>A	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1534G>A	1.37:g.220824025G>A	ENSP00000355884:p.Asp512Asn					MARK1_uc009xdw.2_Missense_Mutation_p.D512N|MARK1_uc010pun.1_Missense_Mutation_p.D512N|MARK1_uc001hmm.3_Missense_Mutation_p.D490N	p.D512N	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	14	2131	+			512						Missense_Mutation	SNP	ENST00000366917.4	37	c.1534G>A	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830705	0.71258	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.49720	0.77;0.77;0.77	5.46	5.46	0.80206	.	0.051716	0.85682	D	0.000000	T	0.48768	0.1518	M	0.65975	2.015	0.54753	D	0.999987	B;B;B;B	0.29253	0.021;0.016;0.239;0.065	B;B;B;B	0.25759	0.013;0.042;0.063;0.048	T	0.42344	-0.9457	10	0.25751	T	0.34	.	19.6609	0.95871	0.0:0.0:1.0:0.0	.	512;377;512;490	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	N	377;490;512	ENSP00000386017:D377N;ENSP00000355885:D490N;ENSP00000355884:D512N	ENSP00000355884:D512N	D	+	1	0	MARK1	218890648	1.000000	0.71417	0.999000	0.59377	0.870000	0.49936	9.198000	0.94994	2.736000	0.93811	0.655000	0.94253	GAT		0.383	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			53	62	0	0	0	0.00361	0	53	62				
ZNF678	339500	broad.mit.edu	37	1	227843408	227843408	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:227843408A>G	ENST00000343776.5	+	4	1802	c.1457A>G	c.(1456-1458)gAg>gGg	p.E486G	ZNF678_ENST00000397097.3_Missense_Mutation_p.E541G|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CATACTGGAGAGAAACGCTAC	0.358																																							uc001hqw.1		NA																	0				pancreas(1)	1						c.(1456-1458)GAG>GGG		zinc finger protein 678							39.0	43.0	41.0					1																	227843408		2202	4295	6497	SO:0001583	missense	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227843408A>G	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.1457A>G	1.37:g.227843408A>G	ENSP00000344828:p.Glu486Gly					ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	p.E486G	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN			4	1802	+		Prostate(94;0.0885)	541					Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37	c.1457A>G		.	.	.	.	.	.	.	.	.	.	A	14.27	2.486095	0.44147	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.27557	1.66;1.66	1.34	1.34	0.21922	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34629	0.0904	M	0.67953	2.075	0.31629	N	0.64929	P	0.46656	0.882	P	0.46629	0.522	T	0.45131	-0.9282	9	0.66056	D	0.02	.	6.698	0.23209	1.0:0.0:0.0:0.0	.	486	Q5SXM1	ZN678_HUMAN	G	486;541	ENSP00000344828:E486G;ENSP00000440403:E541G	ENSP00000344828:E486G	E	+	2	0	ZNF678	225910031	0.988000	0.35896	0.003000	0.11579	0.003000	0.03518	2.725000	0.47294	0.502000	0.28037	0.491000	0.48974	GAG		0.358	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		17	36	0	0	0	0.004007	0	17	36				
OR2T3	343173	broad.mit.edu	37	1	248637509	248637509	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:248637509C>G	ENST00000359594.2	+	1	883	c.858C>G	c.(856-858)ttC>ttG	p.F286L		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACCATCTTCACTCCTGTGC	0.502																																							uc001iel.1		NA																	0				skin(1)	1						c.(856-858)TTC>TTG		olfactory receptor, family 2, subfamily T,							181.0	177.0	178.0					1																	248637509		2202	4296	6498	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637509C>G		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.858C>G	1.37:g.248637509C>G	ENSP00000352604:p.Phe286Leu						p.F286L	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	858	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		286			Helical; Name=7; (Potential).		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.858C>G	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	0.020	-1.436418	0.01108	.	.	ENSG00000196539	ENST00000359594	T	0.00027	8.93	2.37	1.24	0.21308	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.00230	-1.795	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.32348	-0.9910	9	0.02654	T	1	.	4.2546	0.10710	0.2567:0.4903:0.253:0.0	.	286	Q8NH03	OR2T3_HUMAN	L	286	ENSP00000352604:F286L	ENSP00000352604:F286L	F	+	3	2	OR2T3	246704132	0.000000	0.05858	0.026000	0.17262	0.207000	0.24258	-1.985000	0.01485	1.014000	0.39417	0.186000	0.17326	TTC		0.502	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		63	271	0	0	0	0.00361	0	63	271				
ST8SIA6	338596	broad.mit.edu	37	10	17495594	17495594	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr10:17495594C>T	ENST00000377602.4	-	2	238	c.164G>A	c.(163-165)cGg>cAg	p.R55Q		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	55					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						CGCCGGGCTCCGGAGCGTCCT	0.716																																							uc001ipd.2		NA																	0				ovary(1)	1						c.(163-165)CGG>CAG		ST8 alpha-N-acetyl-neuraminide							7.0	9.0	8.0					10																	17495594		2157	4257	6414	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17495594C>T		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.164G>A	10.37:g.17495594C>T	ENSP00000366827:p.Arg55Gln					ST8SIA6_uc010qce.1_RNA	p.R55Q	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN			2	164	-			55			Lumenal (Potential).		B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.164G>A	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502538	0.64298	.	.	ENSG00000148488	ENST00000377602	T	0.23348	1.91	4.51	2.63	0.31362	.	0.561547	0.13765	N	0.364281	T	0.20700	0.0498	L	0.47716	1.5	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.20505	-1.0273	10	0.26408	T	0.33	-27.9126	8.2771	0.31879	0.0:0.8524:0.0:0.1476	.	55	P61647	SIA8F_HUMAN	Q	55	ENSP00000366827:R55Q	ENSP00000366827:R55Q	R	-	2	0	ST8SIA6	17535600	0.649000	0.27322	0.007000	0.13788	0.588000	0.36517	1.144000	0.31565	0.626000	0.30322	0.609000	0.83330	CGG		0.716	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		4	2	0	0	0	0.000602	0	4	2				
PHYHIPL	84457	broad.mit.edu	37	10	60998401	60998401	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr10:60998401G>A	ENST00000373880.4	+	4	796	c.532G>A	c.(532-534)Gga>Aga	p.G178R	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.G152R|PHYHIPL_ENST00000472199.1_3'UTR	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	178						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						AGTGATTGCAGGACGCATGCT	0.308																																							uc001jkk.3		NA																	0					0						c.(532-534)GGA>AGA		phytanoyl-CoA 2-hydroxylase interacting							161.0	167.0	165.0					10																	60998401		2203	4299	6502	SO:0001583	missense	84457							g.chr10:60998401G>A	AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"""Fibronectin type III domain containing"""	29378	protein-coding gene	gene with protein product			"""phytanoyl-CoA hydroxylase interacting protein-like"""			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.532G>A	10.37:g.60998401G>A	ENSP00000362987:p.Gly178Arg					PHYHIPL_uc001jkl.3_Missense_Mutation_p.G132R|PHYHIPL_uc001jkm.3_Missense_Mutation_p.G152R	p.G178R	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN			4	798	+			178					B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Missense_Mutation	SNP	ENST00000373880.4	37	c.532G>A	CCDS7254.1	.	.	.	.	.	.	.	.	.	.	G	34	5.346314	0.95807	.	.	ENSG00000165443	ENST00000373880;ENST00000373878	T;T	0.33216	1.83;1.42	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000001	T	0.60314	0.2259	M	0.79805	2.47	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.975	T	0.59542	-0.7435	10	0.46703	T	0.11	-50.2276	20.0044	0.97430	0.0:0.0:1.0:0.0	.	152;178	Q96FC7-2;Q96FC7	.;PHIPL_HUMAN	R	178;152	ENSP00000362987:G178R;ENSP00000362985:G152R	ENSP00000362985:G152R	G	+	1	0	PHYHIPL	60668407	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.714000	0.92807	0.650000	0.86243	GGA		0.308	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1	NM_032439		20	69	0	0	0	0.007413	0	20	69				
LRRTM3	347731	broad.mit.edu	37	10	68857466	68857466	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr10:68857466C>A	ENST00000361320.4	+	3	2236	c.1658C>A	c.(1657-1659)aCg>aAg	p.T553K	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron|LRRTM3_ENST00000485868.1_3'UTR	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	553					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAGGAAGATACGATGGAAACA	0.468																																							uc001jmz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1657-1659)ACG>AAG		leucine rich repeat transmembrane neuronal 3							169.0	146.0	153.0					10																	68857466		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68857466C>A	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1658C>A	10.37:g.68857466C>A	ENSP00000355187:p.Thr553Lys					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron	p.T553K	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			3	2208	+			553			Cytoplasmic (Potential).		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.1658C>A	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620356	0.28801	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.75154	-0.91	5.92	5.02	0.67125	.	0.133465	0.34484	N	0.003921	T	0.54663	0.1872	N	0.08118	0	0.33628	D	0.605662	B	0.10296	0.003	B	0.04013	0.001	T	0.59994	-0.7349	10	0.33940	T	0.23	.	12.4432	0.55637	0.0:0.9217:0.0:0.0783	.	553	Q86VH5	LRRT3_HUMAN	K	553	ENSP00000355187:T553K	ENSP00000355187:T553K	T	+	2	0	LRRTM3	68527472	0.940000	0.31905	1.000000	0.80357	0.995000	0.86356	2.017000	0.40981	1.528000	0.49103	0.650000	0.86243	ACG		0.468	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		12	60	1	0	2.27111e-07	0.001368	3.09236e-07	12	60				
DDIT4	54541	broad.mit.edu	37	10	74034719	74034719	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr10:74034719C>T	ENST00000307365.3	+	3	673	c.472C>T	c.(472-474)Cac>Tac	p.H158Y	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	158					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CAAGAGCTGCCACAGCGTGGG	0.687											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001jsx.1		NA																	0				pancreas(1)	1						c.(472-474)CAC>TAC		RTP801							27.0	29.0	29.0					10																	74034719		2203	4299	6502	SO:0001583	missense	54541				apoptosis			g.chr10:74034719C>T	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"""HIF-1 responsive RTP801"""	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.472C>T	10.37:g.74034719C>T	ENSP00000307305:p.His158Tyr		OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1149		p.H158Y	NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN			3	674	+			158					Q9H0S3	Missense_Mutation	SNP	ENST00000307365.3	37	c.472C>T	CCDS7315.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.368922	0.82463	.	.	ENSG00000168209	ENST00000307365	T	0.46063	0.88	5.21	5.21	0.72293	.	0.159821	0.53938	D	0.000041	T	0.58779	0.2146	L	0.51422	1.61	0.54753	D	0.999984	D	0.76494	0.999	D	0.64237	0.923	T	0.60362	-0.7278	10	0.59425	D	0.04	-28.8902	18.7735	0.91901	0.0:1.0:0.0:0.0	.	158	Q9NX09	DDIT4_HUMAN	Y	158	ENSP00000307305:H158Y	ENSP00000307305:H158Y	H	+	1	0	DDIT4	73704725	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.895000	0.56258	2.419000	0.82065	0.563000	0.77884	CAC		0.687	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058		9	29	0	0	0	0.006214	0	9	29				
HPS6	79803	broad.mit.edu	37	10	103826990	103826990	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr10:103826990G>A	ENST00000299238.5	+	1	1844	c.1759G>A	c.(1759-1761)Gca>Aca	p.A587T		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	587					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TGTGGAGCTGGCACAGCAGCA	0.662									Hermansky-Pudlak syndrome																														uc001kuj.2		NA																	0					0						c.(1759-1761)GCA>ACA		Hermansky-Pudlak syndrome-6							25.0	26.0	26.0					10																	103826990		2143	4177	6320	SO:0001583	missense	79803	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103826990G>A	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1759G>A	10.37:g.103826990G>A	ENSP00000299238:p.Ala587Thr						p.A587T	NM_024747	NP_079023	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	1844	+		Colorectal(252;0.122)	587					Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	c.1759G>A	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261943	0.39995	.	.	ENSG00000166189	ENST00000299238	D	0.82711	-1.64	5.12	5.12	0.69794	.	0.057323	0.64402	D	0.000002	D	0.86301	0.5900	L	0.54323	1.7	0.38142	D	0.938471	D	0.76494	0.999	D	0.71656	0.974	D	0.85729	0.1330	10	0.39692	T	0.17	-8.463	7.8591	0.29499	0.0876:0.0:0.7479:0.1645	.	587	Q86YV9	HPS6_HUMAN	T	587	ENSP00000299238:A587T	ENSP00000299238:A587T	A	+	1	0	HPS6	103816980	1.000000	0.71417	0.992000	0.48379	0.187000	0.23431	3.995000	0.57001	2.669000	0.90835	0.561000	0.74099	GCA		0.662	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		22	33	0	0	0	0.001523	0	22	33				
CFAP43	80217	broad.mit.edu	37	10	105944862	105944862	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr10:105944862C>G	ENST00000278064.2	-	16	2171	c.1846G>C	c.(1846-1848)Ggg>Cgg	p.G616R	WDR96_ENST00000428666.1_Missense_Mutation_p.G686R|WDR96_ENST00000357060.3_Missense_Mutation_p.G685R																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GACTGAATCCCATGACCCTGG	0.403																																							uc001kxw.2		NA																	0					0						c.(2053-2055)GGG>CGG		hypothetical protein LOC80217							178.0	156.0	163.0					10																	105944862		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105944862C>G																												ENST00000278064.2:c.1846G>C	10.37:g.105944862C>G	ENSP00000278064:p.Gly616Arg					C10orf79_uc009xxq.2_5'UTR|C10orf79_uc001kxx.3_Missense_Mutation_p.G686R	p.G685R	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	16	2169	-		Colorectal(252;0.178)	685			WD 9.			Missense_Mutation	SNP	ENST00000278064.2	37	c.2053G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.65|18.65	3.669334|3.669334	0.67814|0.67814	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064|ENST00000434629	T;T;T|.	0.28255|.	1.62;1.62;1.62|.	5.18|5.18	4.25|4.25	0.50352|0.50352	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.077189|.	0.53938|.	D|.	0.000046|.	T|T	0.68613|0.68613	0.3020|0.3020	M|M	0.62266|0.62266	1.93|1.93	0.45239|0.45239	D|D	0.998242|0.998242	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.97110|.	1.0;0.991|.	T|T	0.67094|0.67094	-0.5757|-0.5757	10|5	0.62326|.	D|.	0.03|.	.|.	12.658|12.658	0.56797|0.56797	0.1666:0.8334:0.0:0.0|0.1666:0.8334:0.0:0.0	.|.	686;685|.	B4DHB6;Q8NDM7|.	.;WDR96_HUMAN|.	R|I	685;686;616|45	ENSP00000349568:G685R;ENSP00000400289:G686R;ENSP00000278064:G616R|.	ENSP00000278064:G616R|.	G|M	-|-	1|3	0|0	WDR96|WDR96	105934852|105934852	0.994000|0.994000	0.37717|0.37717	0.782000|0.782000	0.31804|0.31804	0.983000|0.983000	0.72400|0.72400	4.369000|4.369000	0.59511|0.59511	1.128000|1.128000	0.42052|0.42052	0.655000|0.655000	0.94253|0.94253	GGG|ATG		0.403	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			3	51	0	0	0	0.004672	0	3	51				
ATRNL1	26033	broad.mit.edu	37	10	117228685	117228685	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr10:117228685G>T	ENST00000355044.3	+	24	3626	c.3500G>T	c.(3499-3501)gGa>gTa	p.G1167V	ATRNL1_ENST00000423111.2_Missense_Mutation_p.G218V|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1167					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATTTTAGCTGGAACAATATCT	0.219																																							uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(3499-3501)GGA>GTA		attractin-like 1 precursor							18.0	20.0	19.0					10																	117228685		2093	4196	6289	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117228685G>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3500G>T	10.37:g.117228685G>T	ENSP00000347152:p.Gly1167Val					ATRNL1_uc010qsm.1_Missense_Mutation_p.G296V|ATRNL1_uc010qsn.1_Intron	p.G1167V	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	24	3886	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1167			Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.3500G>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537670	0.85917	.	.	ENSG00000107518	ENST00000355044;ENST00000423111	T;T	0.70986	-0.53;-0.53	5.73	5.73	0.89815	.	0.099426	0.64402	D	0.000001	D	0.83229	0.5209	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	0.986;1.0	P;D	0.91635	0.738;0.999	T	0.79505	-0.1776	10	0.30078	T	0.28	-15.2272	19.9112	0.97025	0.0:0.0:1.0:0.0	.	218;1167	B4DH41;Q5VV63	.;ATRN1_HUMAN	V	1167;218	ENSP00000347152:G1167V;ENSP00000409624:G218V	ENSP00000347152:G1167V	G	+	2	0	ATRNL1	117218675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.767000	0.98960	2.718000	0.92993	0.585000	0.79938	GGA		0.219	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		7	10	1	0	2.0095e-06	0.001984	2.71193e-06	7	10				
EMX2	2018	broad.mit.edu	37	10	119303110	119303110	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr10:119303110C>T	ENST00000553456.3	+	1	1156	c.332C>T	c.(331-333)tCg>tTg	p.S111L	EMX2OS_ENST00000440007.1_RNA|EMX2OS_ENST00000450314.2_RNA|EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Missense_Mutation_p.S111L	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	111					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CTATTCGCCTCGCAGCAGCGG	0.697																																							uc001ldh.3		NA																	0					0						c.(331-333)TCG>TTG		empty spiracles homeobox 2 isoform 1							79.0	74.0	76.0					10																	119303110		2203	4300	6503	SO:0001583	missense	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119303110C>T	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.332C>T	10.37:g.119303110C>T	ENSP00000450962:p.Ser111Leu					EMX2OS_uc001ldf.2_5'Flank|EMX2OS_uc001ldg.2_Intron|EMX2_uc001ldi.3_Missense_Mutation_p.S111L	p.S111L	NM_004098	NP_004089	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	1	1155	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	111					G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	ENST00000553456.3	37	c.332C>T	CCDS7601.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468117	0.26335	.	.	ENSG00000170370;ENSG00000258614	ENST00000369201;ENST00000553456	D	0.91996	-2.95	5.78	5.78	0.91487	.	0.152777	0.64402	D	0.000014	D	0.88202	0.6373	N	0.08118	0	0.80722	D	1	D;P	0.64830	0.994;0.939	P;B	0.53224	0.721;0.09	D	0.85222	0.1027	10	0.10111	T	0.7	-15.4464	20.0059	0.97434	0.0:1.0:0.0:0.0	.	111;111	G3V305;Q04743	.;EMX2_HUMAN	L	111	ENSP00000450962:S111L	ENSP00000358202:S111L	S	+	2	0	AC005871.1;EMX2	119293100	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.915000	0.69973	2.719000	0.93026	0.551000	0.68910	TCG		0.697	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		21	70	0	0	0	0.001882	0	21	70				
BGLT3	103344929	broad.mit.edu	37	11	5264337	5264337	+	RNA	SNP	A	A	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr11:5264337A>C	ENST00000564523.1	-	0	1988				HBBP1_ENST00000454892.1_RNA																							ACTACTCACCAGGAAGTTCTC	0.458																																							uc001mag.2		NA																	0					0						c.(148-150)CTG>CGG		Homo sapiens hemoglobin, beta pseudogene 1 (HBBP1), non-coding RNA.																																						3044							g.chr11:5264337A>C																													11.37:g.5264337A>C							p.L50R	NR_001589						2	365	-									Missense_Mutation	SNP	ENST00000564523.1	37	c.149T>G																																																																																					0.458	CTD-2643I7.1-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000422245.1			4	14	0	0	0	0.000248	0	4	14				
OR51I2	390064	broad.mit.edu	37	11	5474928	5474928	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr11:5474928T>A	ENST00000341449.2	+	1	291	c.210T>A	c.(208-210)gaT>gaA	p.D70E	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	70					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTCAGTGATGTGGCCATAT	0.522																																							uc010qzf.1		NA																	0				ovary(2)|skin(2)	4						c.(208-210)GAT>GAA		olfactory receptor, family 51, subfamily I,							109.0	101.0	104.0					11																	5474928		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5474928T>A	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.210T>A	11.37:g.5474928T>A	ENSP00000341987:p.Asp70Glu					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.D70E	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	210	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	70			Helical; Name=2; (Potential).		Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.210T>A	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.762374	0.69763	.	.	ENSG00000187918	ENST00000341449	T	0.01152	5.26	5.57	-6.73	0.01749	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.04272	0.0118	M	0.68952	2.095	0.20403	N	0.999909	D	0.64830	0.994	D	0.72625	0.978	T	0.00046	-1.2212	10	0.56958	D	0.05	.	17.6811	0.88243	0.0:0.6285:0.0:0.3715	.	70	Q9H344	O51I2_HUMAN	E	70	ENSP00000341987:D70E	ENSP00000341987:D70E	D	+	3	2	OR51I2	5431504	0.000000	0.05858	0.659000	0.29680	0.995000	0.86356	-1.204000	0.03017	-1.143000	0.02866	0.528000	0.53228	GAT		0.522	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		20	52	0	0	0	0.008871	0	20	52				
OR52N1	79473	broad.mit.edu	37	11	5809749	5809749	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr11:5809749G>T	ENST00000317078.1	-	1	297	c.298C>A	c.(298-300)Ctc>Atc	p.L100I	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATCTGGGCGAGGCAGGCTTTA	0.517																																							uc010qzo.1		NA																	0				skin(1)	1						c.(298-300)CTC>ATC		olfactory receptor, family 52, subfamily N,							151.0	140.0	144.0					11																	5809749		2201	4296	6497	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809749G>T	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.298C>A	11.37:g.5809749G>T	ENSP00000322823:p.Leu100Ile					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.L100I	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	298	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	100			Extracellular (Potential).		Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.298C>A	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052498	0.36181	.	.	ENSG00000181001	ENST00000317078	T	0.20738	2.05	4.59	1.68	0.24146	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	N	0.001506	T	0.35682	0.0940	L	0.55834	1.745	0.20764	N	0.999853	D	0.89917	1.0	D	0.91635	0.999	T	0.06661	-1.0814	10	0.49607	T	0.09	.	8.7181	0.34423	0.2549:0.0:0.7451:0.0	.	100	Q8NH53	O52N1_HUMAN	I	100	ENSP00000322823:L100I	ENSP00000322823:L100I	L	-	1	0	OR52N1	5766325	0.002000	0.14202	0.943000	0.38184	0.328000	0.28507	-1.209000	0.03002	0.263000	0.21812	0.609000	0.83330	CTC		0.517	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		19	43	1	0	8.28177e-16	0.007413	1.39555e-15	19	43				
OR52L1	338751	broad.mit.edu	37	11	6007176	6007177	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr11:6007176_6007177CC>AA	ENST00000332249.4	-	1	1038_1039	c.984_985GG>TT	c.(982-987)aaGGat>aaTTat	p.328_329KD>NY		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	328						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGATCAATCCTTTTGTGTAA	0.485																																					Melanoma(121;653 1666 10547 22796 51255)	Melanoma(121;653 1666 10547 22796 51255)	uc001mcd.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(982-987)AAGGAT>AATTAT		olfactory receptor, family 52, subfamily L,																																				SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007176_6007177CC>AA	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.984_985delinsAA	11.37:g.6007176_6007177delinsAA	ENSP00000330338:p.K328_D329delinsNY						p.328_329KD>NY	NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	1039_1040	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	328_329			Cytoplasmic (Potential).		B2RPA6|Q6IFK9	Missense_Mutation	DNP	ENST00000332249.4	37	c.984_985GG>TT	CCDS44529.1																																																																																				0.485	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		4	6	0	0	0	0.004672	0	4	6				
CCKBR	887	broad.mit.edu	37	11	6291107	6291107	+	Silent	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr11:6291107C>T	ENST00000334619.2	+	2	553	c.360C>T	c.(358-360)ttC>ttT	p.F120F	CCKBR_ENST00000525014.1_Silent_p.F120F|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525462.1_Silent_p.F120F	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	120					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGGGCACATTCATCTTTGGCA	0.587																																							uc001mcp.2		NA																	0				lung(5)|ovary(2)|breast(1)	8						c.(358-360)TTC>TTT		cholecystokinin B receptor	Pentagastrin(DB00183)						99.0	80.0	86.0					11																	6291107		2201	4296	6497	SO:0001819	synonymous_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6291107C>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.360C>T	11.37:g.6291107C>T						CCKBR_uc001mcq.2_Silent_p.F48F|CCKBR_uc001mcr.2_Silent_p.F120F|CCKBR_uc001mcs.2_Silent_p.F120F	p.F120F	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	2	553	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	120			Extracellular (Potential).		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	c.360C>T	CCDS7761.1																																																																																				0.587	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		8	31	0	0	0	0.00308	0	8	31				
SYT9	143425	broad.mit.edu	37	11	7441778	7441778	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr11:7441778A>T	ENST00000318881.6	+	6	1616	c.1379A>T	c.(1378-1380)aAc>aTc	p.N460I		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	460					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CAAGTAGGCAACGAGGCTGAG	0.463																																							uc001mfe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1378-1380)AAC>ATC		synaptotagmin IX							168.0	145.0	153.0					11																	7441778		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7441778A>T	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1379A>T	11.37:g.7441778A>T	ENSP00000324419:p.Asn460Ile					SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	p.N460I	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	6	1616	+			460			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000318881.6	37	c.1379A>T	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	A	11.04	1.521223	0.27211	.	.	ENSG00000170743	ENST00000318881	T	0.70282	-0.47	5.64	4.5	0.54988	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000012	T	0.54334	0.1852	N	0.25286	0.73	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.43829	-0.9367	10	0.20519	T	0.43	.	11.1319	0.48351	0.845:0.1549:0.0:0.0	.	460	Q86SS6	SYT9_HUMAN	I	460	ENSP00000324419:N460I	ENSP00000324419:N460I	N	+	2	0	SYT9	7398354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.765000	0.55272	0.944000	0.37579	0.533000	0.62120	AAC		0.463	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		8	15	0	0	0	0.00308	0	8	15				
OVCH2	341277	broad.mit.edu	37	11	7723352	7723352	+	lincRNA	SNP	A	A	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr11:7723352A>T	ENST00000527565.1	-	0	1178				OVCH2_ENST00000454689.1_RNA|OVCH2_ENST00000534193.2_RNA																							GGGCCCCACAAAGTGGCCTGA	0.502																																							uc010rbf.1		NA																	0					0						c.(469-471)TTT>TAT		ovochymase 2 precursor							27.0	26.0	26.0					11																	7723352		1846	4094	5940			341277							g.chr11:7723352A>T																													11.37:g.7723352A>T							p.F157Y	NM_198185	NP_937828				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)	5	470	-									Missense_Mutation	SNP	ENST00000527565.1	37	c.470T>A		.	.	.	.	.	.	.	.	.	.	A	0.021	-1.419120	0.01136	.	.	ENSG00000183378	ENST00000454689	D	0.92348	-3.02	5.36	1.59	0.23543	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.333600	0.22313	N	0.061704	T	0.71710	0.3372	N	0.01529	-0.815	0.18873	N	0.999985	B	0.19445	0.036	B	0.27608	0.081	T	0.64588	-0.6372	10	0.02654	T	1	-3.9083	3.871	0.09036	0.5758:0.0:0.2755:0.1486	.	157	Q7RTZ1	OVCH2_HUMAN	Y	157	ENSP00000407158:F157Y	ENSP00000407158:F157Y	F	-	2	0	OVCH2	7679928	0.075000	0.21258	0.822000	0.32727	0.116000	0.19942	0.683000	0.25349	0.078000	0.16900	0.533000	0.62120	TTT		0.502	RP11-35J10.5-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000385692.1			6	7	0	0	0	0.001984	0	6	7				
WT1	7490	broad.mit.edu	37	11	32413517	32413517	+	Splice_Site	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr11:32413517C>T	ENST00000530998.1	-	8	1019		c.e8+1		WT1_ENST00000448076.3_Intron|WT1_ENST00000379079.2_Intron|WT1_ENST00000332351.3_Splice_Site	NM_001198552.1	NP_001185481.1	P19544	WT1_HUMAN	Wilms tumor 1						adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AGTTTACGCACTTGTTTTACC	0.378			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																														uc001mtn.1		NA	yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	D|Mis|N|F|S	Wilms tumour 1 gene			O	EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	EWSR1/WT1(231)	0				haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	GRCh37	CS066321	WT1	S		c.e9+1		Wilms tumor 1 isoform D							165.0	169.0	168.0					11																	32413517		2202	4299	6501	SO:0001630	splice_region_variant	7490	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32413517C>T		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000530998.1:c.745+1G>A	11.37:g.32413517C>T						WT1_uc001mtl.1_Intron|WT1_uc001mtm.1_Splice_Site_p.S249_splice|WT1_uc001mto.1_Intron|WT1_uc001mtp.1_Splice_Site_p.S461_splice|WT1_uc001mtq.1_Intron|WT1_uc009yjs.1_Splice_Site	p.S478_splice	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		9	1628	-	Breast(20;0.247)							A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Splice_Site	SNP	ENST00000530998.1	37	c.1432_splice	CCDS55750.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057547	0.93846	.	.	ENSG00000184937	ENST00000332351;ENST00000530998;ENST00000527882	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WT1	32370093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.873000	0.98535	0.561000	0.74099	.		0.378	WT1-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000095435.3	NM_000378	Intron	30	88	0	0	0	0.003755	0	30	88				
OR4X1	390113	broad.mit.edu	37	11	48285577	48285577	+	Silent	SNP	C	C	T	rs539642827		TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr11:48285577C>T	ENST00000320048.1	+	1	165	c.165C>T	c.(163-165)tcC>tcT	p.S55S		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGCTCACCTCCCCCATGTATT	0.478																																							uc010rht.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(163-165)TCC>TCT		olfactory receptor, family 4, subfamily X,							161.0	145.0	150.0					11																	48285577		2201	4298	6499	SO:0001819	synonymous_variant	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48285577C>T	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.165C>T	11.37:g.48285577C>T							p.S55S	NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN			1	165	+			55			Cytoplasmic (Potential).		Q6IF74	Silent	SNP	ENST00000320048.1	37	c.165C>T	CCDS31487.1																																																																																				0.478	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		16	27	0	0	0	0.006122	0	16	27				
OR4X1	390113	broad.mit.edu	37	11	48286115	48286115	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr11:48286115C>A	ENST00000320048.1	+	1	703	c.703C>A	c.(703-705)Ctc>Atc	p.L235I		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GCACAAGGCCCTCTCCACCTG	0.537																																							uc010rht.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(703-705)CTC>ATC		olfactory receptor, family 4, subfamily X,							132.0	118.0	123.0					11																	48286115		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48286115C>A	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.703C>A	11.37:g.48286115C>A	ENSP00000321506:p.Leu235Ile						p.L235I	NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN			1	703	+			235			Helical; Name=6; (Potential).		Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.703C>A	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319323	0.23994	.	.	ENSG00000176567	ENST00000320048	T	0.00137	8.68	4.5	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00440	0.0014	M	0.83312	2.635	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44205	-0.9343	9	0.87932	D	0	.	7.0312	0.24969	0.0:0.7973:0.0:0.2027	.	235	Q8NH49	OR4X1_HUMAN	I	235	ENSP00000321506:L235I	ENSP00000321506:L235I	L	+	1	0	OR4X1	48242691	0.017000	0.18338	0.796000	0.32109	0.014000	0.08584	0.509000	0.22707	1.239000	0.43787	0.563000	0.77884	CTC		0.537	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		23	49	1	0	1.9806e-07	0.002299	2.72109e-07	23	49				
FOLH1	2346	broad.mit.edu	37	11	49208288	49208288	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr11:49208288C>A	ENST00000256999.2	-	5	807	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	FOLH1_ENST00000340334.7_Nonsense_Mutation_p.E168*|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Nonsense_Mutation_p.E168*|FOLH1_ENST00000356696.3_Nonsense_Mutation_p.E183*	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	183					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AAGAAGTCTTCAGTTCGTGCA	0.383																																							uc001ngy.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(547-549)GAA>TAA		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						89.0	90.0	90.0					11																	49208288		2201	4298	6499	SO:0001587	stop_gained	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49208288C>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.547G>T	11.37:g.49208288C>A	ENSP00000256999:p.Glu183*					FOLH1_uc001ngz.2_Nonsense_Mutation_p.E183*|FOLH1_uc009yly.2_Nonsense_Mutation_p.E168*|FOLH1_uc009ylz.2_Nonsense_Mutation_p.E168*|FOLH1_uc009yma.2_5'UTR	p.E183*	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			5	808	-			183			Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Nonsense_Mutation	SNP	ENST00000256999.2	37	c.547G>T	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	38	7.266228	0.98175	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	.	.	.	3.05	2.11	0.27256	.	0.120799	0.36519	N	0.002542	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.0591	0.30623	0.0:0.8708:0.0:0.1292	.	.	.	.	X	183;183;168;168;183	.	ENSP00000256999:E183X	E	-	1	0	FOLH1	49164864	0.994000	0.37717	0.992000	0.48379	0.990000	0.78478	3.185000	0.50934	0.646000	0.30693	0.430000	0.28490	GAA		0.383	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		9	47	1	0	0.00448238	0.004482	0.00551261	9	47				
OR4C13	283092	broad.mit.edu	37	11	49974135	49974135	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr11:49974135G>T	ENST00000555099.1	+	1	193	c.161G>T	c.(160-162)aGa>aTa	p.R54I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CCATCACTGAGATCCCCCATG	0.428																																							uc010rhz.1		NA																	0				skin(3)|ovary(1)	4						c.(160-162)AGA>ATA		olfactory receptor, family 4, subfamily C,							256.0	234.0	241.0					11																	49974135		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974135G>T	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.161G>T	11.37:g.49974135G>T	ENSP00000452277:p.Arg54Ile						p.R54I	NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN			1	161	+			54			Cytoplasmic (Potential).		A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.161G>T	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	2.973	-0.212075	0.06140	.	.	ENSG00000258817	ENST00000555099	T	0.03035	4.07	2.95	0.944	0.19537	GPCR, rhodopsin-like superfamily (1);	0.376308	0.19252	N	0.118888	T	0.04182	0.0116	L	0.59912	1.85	0.09310	N	1	B	0.11235	0.004	B	0.17098	0.017	T	0.39057	-0.9632	9	.	.	.	.	5.502	0.16834	0.4029:0.0:0.597:0.0	.	54	Q8NGP0	OR4CD_HUMAN	I	54	ENSP00000452277:R54I	.	R	+	2	0	OR4C13	49930711	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.137000	0.15995	0.099000	0.17552	0.195000	0.17529	AGA		0.428	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		52	104	1	0	3.76997e-23	0.00361	7.09778e-23	52	104				
OR4C6	219432	broad.mit.edu	37	11	55433305	55433305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr11:55433305C>A	ENST00000314259.3	+	1	692	c.663C>A	c.(661-663)tgC>tgA	p.C221*		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCATCCTATGCTCCCTGAAGT	0.507																																							uc001nht.3		NA																	0				skin(2)	2						c.(661-663)TGC>TGA		olfactory receptor, family 4, subfamily C,							133.0	122.0	126.0					11																	55433305		2200	4296	6496	SO:0001587	stop_gained	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433305C>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.663C>A	11.37:g.55433305C>A	ENSP00000324769:p.Cys221*					OR4C6_uc010rik.1_Nonsense_Mutation_p.C221*	p.C221*	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	928	+			221			Cytoplasmic (Potential).		B2RP11|Q6IFD2	Nonsense_Mutation	SNP	ENST00000314259.3	37	c.663C>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	5.062	0.197138	0.09599	.	.	ENSG00000181903	ENST00000314259	.	.	.	4.07	-1.29	0.09288	.	0.189729	0.26224	N	0.025617	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	10.0944	0.42466	0.0:0.6276:0.0:0.3724	.	.	.	.	X	221	.	ENSP00000324769:C221X	C	+	3	2	OR4C6	55189881	0.000000	0.05858	0.095000	0.20976	0.082000	0.17680	-3.343000	0.00504	-0.127000	0.11661	-0.402000	0.06365	TGC		0.507	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		29	53	1	0	1.75199e-13	0.007291	2.84232e-13	29	53				
CHKA	1119	broad.mit.edu	37	11	67864558	67864558	+	Silent	SNP	A	A	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr11:67864558A>T	ENST00000265689.4	-	2	416	c.390T>A	c.(388-390)ccT>ccA	p.P130P	CHKA_ENST00000356135.5_Silent_p.P130P	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	130					CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	CTGTGGTGTCAGGTAGGGAGC	0.512																																							uc001onj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(388-390)CCT>CCA		choline kinase alpha isoform a	Choline(DB00122)						103.0	89.0	94.0					11																	67864558		2200	4294	6494	SO:0001819	synonymous_variant	1119				lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity	g.chr11:67864558A>T	D10704	CCDS8178.1, CCDS8179.1	11q13.1	2008-02-05	2004-04-19	2004-04-21	ENSG00000110721	ENSG00000110721	2.7.1.32		1937	protein-coding gene	gene with protein product		118491	"""choline kinase"""	CHK		1618328, 15003397	Standard	NM_001277		Approved	CKI	uc001onj.3	P35790	OTTHUMG00000167424	ENST00000265689.4:c.390T>A	11.37:g.67864558A>T						CHKA_uc001onk.2_Silent_p.P130P	p.P130P	NM_001277	NP_001268	P35790	CHKA_HUMAN			2	604	-			130					Q8NE29	Silent	SNP	ENST00000265689.4	37	c.390T>A	CCDS8178.1																																																																																				0.512	CHKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394570.1	NM_001277		16	30	0	0	0	0.006122	0	16	30				
ANO1	55107	broad.mit.edu	37	11	69972201	69972201	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr11:69972201G>C	ENST00000355303.5	+	10	1302	c.997G>C	c.(997-999)Gcc>Ccc	p.A333P	ANO1_ENST00000398543.2_Missense_Mutation_p.A217P|ANO1_ENST00000316296.5_Missense_Mutation_p.A305P|ANO1_ENST00000530676.1_Missense_Mutation_p.A217P|ANO1_ENST00000531349.1_Missense_Mutation_p.A68P|ANO1_ENST00000538023.1_Missense_Mutation_p.A333P	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	333					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CCTGTACTTCGCCTGGCTGGG	0.537																																							uc001opj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(997-999)GCC>CCC		anoctamin 1, calcium activated chloride channel							123.0	128.0	127.0					11																	69972201		2070	4204	6274	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69972201G>C	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.997G>C	11.37:g.69972201G>C	ENSP00000347454:p.Ala333Pro					ANO1_uc001opk.1_Missense_Mutation_p.A305P|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.A68P	p.A333P	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			10	1302	+			333			Cytoplasmic (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.997G>C	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153651	0.94645	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.87633	0.6226	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.992	D;D;D	0.85130	0.997;0.969;0.981	D	0.91604	0.5297	9	.	.	.	.	18.3913	0.90484	0.0:0.0:1.0:0.0	.	68;305;333	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	P	333;333;217;117;305;217;68	ENSP00000347454:A333P;ENSP00000444689:A333P;ENSP00000381551:A217P;ENSP00000319477:A305P;ENSP00000435797:A217P;ENSP00000432843:A68P	.	A	+	1	0	ANO1	69649849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.359000	0.97115	2.330000	0.79161	0.462000	0.41574	GCC		0.537	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		20	39	0	0	0	0.002299	0	20	39				
SLCO2B1	11309	broad.mit.edu	37	11	74880349	74880349	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr11:74880349G>A	ENST00000289575.5	+	5	975	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.V172M|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.V50M|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.V78M	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	194					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	GATCATGTTCGTGGCACAGAC	0.612																																							uc001owb.2		NA																	0				ovary(1)|breast(1)	2						c.(580-582)GTG>ATG		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						88.0	86.0	87.0					11																	74880349		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74880349G>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.580G>A	11.37:g.74880349G>A	ENSP00000289575:p.Val194Met					SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Missense_Mutation_p.V50M|SLCO2B1_uc010rrs.1_Missense_Mutation_p.V78M|SLCO2B1_uc001owc.2_Intron|SLCO2B1_uc001owd.2_Missense_Mutation_p.V172M	p.V194M	NM_007256	NP_009187	O94956	SO2B1_HUMAN			5	967	+			194			Helical; Name=4; (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.580G>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530777	0.27387	.	.	ENSG00000137491	ENST00000289575;ENST00000532236;ENST00000525650;ENST00000428359;ENST00000526839	T;D;D;T;D	0.82803	0.08;-1.65;-1.65;0.08;-1.65	4.83	-6.31	0.02001	Major facilitator superfamily domain, general substrate transporter (1);	1.219500	0.05389	N	0.538688	T	0.58921	0.2156	N	0.16862	0.45	0.22601	N	0.998942	P;B	0.35807	0.522;0.249	B;B	0.18263	0.021;0.021	T	0.52779	-0.8530	10	0.33940	T	0.23	.	3.4767	0.07587	0.2113:0.2543:0.4196:0.1148	.	50;194	E9PPU8;O94956	.;SO2B1_HUMAN	M	194;78;50;172;70	ENSP00000289575:V194M;ENSP00000434112:V78M;ENSP00000436324:V50M;ENSP00000388912:V172M;ENSP00000434742:V70M	ENSP00000289575:V194M	V	+	1	0	SLCO2B1	74557997	0.000000	0.05858	0.012000	0.15200	0.848000	0.48234	-0.807000	0.04520	-0.940000	0.03705	-1.316000	0.01300	GTG		0.612	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		17	36	0	0	0	0.004007	0	17	36				
PANX1	24145	broad.mit.edu	37	11	93913424	93913424	+	Splice_Site	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr11:93913424G>T	ENST00000227638.3	+	4	1586		c.e4+1		PANX1_ENST00000436171.2_Splice_Site	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1						calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	GAGCTCCAAGGTAGGGTTTGC	0.507																																							uc001per.2		NA																	0					0						c.e4+1		pannexin 1							50.0	49.0	49.0					11																	93913424		2201	4298	6499	SO:0001630	splice_region_variant	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93913424G>T	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.1201+1G>T	11.37:g.93913424G>T						PANX1_uc001peq.2_Splice_Site_p.D401_splice	p.G401_splice	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN			4	1586	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)						O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Splice_Site	SNP	ENST00000227638.3	37	c.1201_splice	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115300	0.77323	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3958	0.90497	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PANX1	93553072	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.954000	0.76001	2.437000	0.82529	0.655000	0.94253	.		0.507	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368	Intron	3	20	1	0	0.00024832	0.000248	0.000318225	3	20				
OR8D2	283160	broad.mit.edu	37	11	124189303	124189303	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr11:124189303G>T	ENST00000357438.2	-	1	881	c.791C>A	c.(790-792)tCc>tAc	p.S264Y		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AGTAGTGCTGGAAGGGGGCTT	0.448																																							uc010sah.1		NA																	0				breast(1)|central_nervous_system(1)|pancreas(1)	3						c.(790-792)TCC>TAC		olfactory receptor, family 8, subfamily D,							136.0	143.0	140.0					11																	124189303		2201	4299	6500	SO:0001583	missense	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189303G>T	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.791C>A	11.37:g.124189303G>T	ENSP00000350022:p.Ser264Tyr						p.S264Y	NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	791	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	264			Extracellular (Potential).		B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	c.791C>A	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	g	14.47	2.544931	0.45280	.	.	ENSG00000197263	ENST00000357438	T	0.00274	8.35	3.34	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000246	T	0.00724	0.0024	M	0.89904	3.07	0.09310	N	1	D	0.69078	0.997	D	0.69479	0.964	T	0.17048	-1.0382	10	0.87932	D	0	.	12.3613	0.55205	0.0:0.0:0.8288:0.1711	.	264	Q9GZM6	OR8D2_HUMAN	Y	264	ENSP00000350022:S264Y	ENSP00000350022:S264Y	S	-	2	0	OR8D2	123694513	0.001000	0.12720	0.006000	0.13384	0.940000	0.58332	0.973000	0.29422	0.980000	0.38523	0.530000	0.56133	TCC		0.448	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		35	72	1	0	1.04594e-18	0.00623	1.8334e-18	35	72				
VWF	7450	broad.mit.edu	37	12	6127901	6127901	+	Silent	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr12:6127901G>T	ENST00000261405.5	-	28	4937	c.4683C>A	c.(4681-4683)atC>atA	p.I1561I		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1561	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCCGCTGCAGGATGTCCCCTT	0.617																																							uc001qnn.1		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(4681-4683)ATC>ATA		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						49.0	50.0	49.0					12																	6127901		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6127901G>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4683C>A	12.37:g.6127901G>T						VWF_uc010set.1_Intron	p.I1561I	NM_000552	NP_000543	P04275	VWF_HUMAN			28	4933	-			1561			VWFA 2.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.4683C>A	CCDS8539.1																																																																																				0.617	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		17	10	1	0	4.96729e-08	0.008871	6.98167e-08	17	10				
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	IGR	SNP	G	G	C	rs199863259		TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr12:13028751G>C								DDX47 (45836 upstream) : GPRC5A (14964 downstream)																							GGTGTTTGACGGCATCCCACC	0.612																																							uc010sho.1		NA																	0					0						c.(319-321)GGC>CGC		SubName: Full=Ribosomal protein L13a variant; Flags: Fragment;																																				SO:0001628	intergenic_variant	387841							g.chr12:13028751G>C																													12.37:g.13028751G>C							p.G107R	NR_003932						1	341	+									Missense_Mutation	SNP		37	c.319G>C																																																																																				0	0.612									3	9	0	0	0	0.004672	0	3	9				
KRAS	3845	broad.mit.edu	37	12	25398284	25398285	+	Missense_Mutation	DNP	CC	CC	TA	rs121913530|rs121913529		TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr12:25398284_25398285CC>TA	ENST00000256078.4	-	2	97_98	c.34_35GG>TA	c.(34-36)GGt>TAt	p.G12Y	KRAS_ENST00000556131.1_Missense_Mutation_p.G12Y|KRAS_ENST00000557334.1_Missense_Mutation_p.G12Y|KRAS_ENST00000311936.3_Missense_Mutation_p.G12Y	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>TAT		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>TA	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_35delinsTA	12.37:g.25398284_25398285delinsTA	ENSP00000256078:p.Gly12Tyr	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12Y|KRAS_uc001rgr.2_RNA	p.G12Y	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>TA	CCDS8703.1																																																																																				0.347	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		14	9	0	0	0	0.004672	0	14	9				
PDZRN4	29951	broad.mit.edu	37	12	41967321	41967321	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr12:41967321C>A	ENST00000402685.2	+	10	2748	c.2740C>A	c.(2740-2742)Cgt>Agt	p.R914S	PDZRN4_ENST00000298919.7_Missense_Mutation_p.R654S|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R656S	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	914							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CCTGAAGGAACGTGCCTTAAA	0.512																																							uc010skn.1		NA																	0				lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(2143-2145)CGT>AGT		PDZ domain containing RING finger 4 isoform 2							96.0	89.0	91.0					12																	41967321		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967321C>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2740C>A	12.37:g.41967321C>A	ENSP00000384197:p.Arg914Ser					PDZRN4_uc001rmq.3_Missense_Mutation_p.R656S|PDZRN4_uc009zjz.2_Missense_Mutation_p.R654S|PDZRN4_uc001rmr.2_Missense_Mutation_p.R541S	p.R715S	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	2211	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	914					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.2143C>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595222	0.86953	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.42900	0.96;0.96;0.96	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.984;0.995	T	0.73072	-0.4098	10	0.87932	D	0	-20.4934	19.939	0.97151	0.0:1.0:0.0:0.0	.	914;654;656	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	S	914;656;654	ENSP00000384197:R914S;ENSP00000439990:R656S;ENSP00000298919:R654S	ENSP00000298919:R654S	R	+	1	0	PDZRN4	40253588	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.997000	0.70646	2.890000	0.99128	0.650000	0.86243	CGT		0.512	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		24	48	1	0	3.08376e-08	0.00333	4.41572e-08	24	48				
TMTC3	160418	broad.mit.edu	37	12	88548080	88548081	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr12:88548080_88548081GG>TT	ENST00000266712.6	+	4	644_645	c.424_425GG>TT	c.(424-426)GGa>TTa	p.G142L		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	142					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AGGAGTTGTTGGAAGAGCAGAA	0.297																																							uc001tau.2		NA																	0				skin(1)	1						c.(424-426)GGA>TTA		transmembrane and tetratricopeptide repeat																																				SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88548080_88548081GG>TT		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	Exception_encountered	12.37:g.88548080_88548081delinsTT	ENSP00000266712:p.Gly142Leu					TMTC3_uc009zsm.2_RNA	p.G142L	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN			4	644_645	+			142			Helical; (Potential).		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	DNP	ENST00000266712.6	37	c.424_425GG>TT	CCDS9032.1																																																																																				0.297	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		16	21	0	0	0	0.004672	0	16	21				
CFAP54	144535	broad.mit.edu	37	12	97043823	97043823	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr12:97043823A>T	ENST00000524981.4	+	35	4868	c.4845A>T	c.(4843-4845)aaA>aaT	p.K1615N				Q96N23	CL055_HUMAN		0																	ATTTTATGAAAATCTTTTTAT	0.378																																							uc001tet.1		NA																	0				skin(6)|ovary(1)	7						c.(118-120)AAA>AAT		hypothetical protein LOC374467							111.0	116.0	115.0					12																	97043823		2203	4300	6503	SO:0001583	missense	374467							g.chr12:97043823A>T																												ENST00000524981.4:c.4845A>T	12.37:g.97043823A>T	ENSP00000431759:p.Lys1615Asn						p.K40N	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			2	198	+			40						Missense_Mutation	SNP	ENST00000524981.4	37	c.120A>T		.	.	.	.	.	.	.	.	.	.	A	10.37	1.330087	0.24167	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.75	1.76	0.24704	.	0.279124	0.30410	N	0.009694	T	0.39860	0.1094	L	0.47716	1.5	0.24669	N	0.993421	D	0.56746	0.977	P	0.55923	0.787	T	0.16129	-1.0413	9	0.72032	D	0.01	-15.7556	5.995	0.19489	0.6241:0.1336:0.2424:0.0	.	40	Q6ZTY8	CL063_HUMAN	N	1615;40	.	ENSP00000345466:K40N	K	+	3	2	C12orf63	95567954	0.998000	0.40836	0.993000	0.49108	0.075000	0.17131	0.558000	0.23469	0.471000	0.27319	-0.250000	0.11733	AAA		0.378	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			15	26	0	0	0	0.00245	0	15	26				
STAB2	55576	broad.mit.edu	37	12	104033930	104033930	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr12:104033930G>C	ENST00000388887.2	+	9	1140	c.936G>C	c.(934-936)caG>caC	p.Q312H		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGCATTACCAGAATTTCGTAC	0.433																																							uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(934-936)CAG>CAC		stabilin 2 precursor							157.0	143.0	148.0					12																	104033930		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104033930G>C	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.936G>C	12.37:g.104033930G>C	ENSP00000373539:p.Gln312His						p.Q312H	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			9	1122	+			312			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000388887.2	37	c.936G>C	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	0.045	-1.270467	0.01421	.	.	ENSG00000136011	ENST00000388887	T	0.08008	3.14	5.62	0.274	0.15654	.	1.615670	0.03184	N	0.172400	T	0.07007	0.0178	N	0.21282	0.65	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38478	-0.9659	10	0.24483	T	0.36	.	8.6693	0.34140	0.4307:0.2615:0.3079:0.0	.	312	Q8WWQ8	STAB2_HUMAN	H	312	ENSP00000373539:Q312H	ENSP00000373539:Q312H	Q	+	3	2	STAB2	102558060	0.000000	0.05858	0.007000	0.13788	0.026000	0.11368	-0.661000	0.05311	0.380000	0.24823	-0.133000	0.14855	CAG		0.433	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			31	52	0	0	0	0.002096	0	31	52				
STAB2	55576	broad.mit.edu	37	12	104054150	104054150	+	Silent	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr12:104054150C>A	ENST00000388887.2	+	16	1980	c.1776C>A	c.(1774-1776)gtC>gtA	p.V592V	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACCACATTGTCCCATTTACCC	0.423																																							uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(1774-1776)GTC>GTA		stabilin 2 precursor							247.0	250.0	249.0					12																	104054150		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104054150C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1776C>A	12.37:g.104054150C>A							p.V592V	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			16	1962	+			592			Extracellular (Potential).|FAS1 2.			Silent	SNP	ENST00000388887.2	37	c.1776C>A	CCDS31888.1																																																																																				0.423	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			76	171	1	0	4.78148e-37	0.00361	9.59443e-37	76	171				
BTBD11	121551	broad.mit.edu	37	12	107937911	107937911	+	Silent	SNP	G	G	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr12:107937911G>C	ENST00000280758.5	+	3	2013	c.1485G>C	c.(1483-1485)gtG>gtC	p.V495V	BTBD11_ENST00000490090.2_Silent_p.V495V|BTBD11_ENST00000420571.2_Silent_p.V495V	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	495						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACCTCCAGGTGGAAAGGTAAG	0.567																																							uc001tmk.1		NA																	0				skin(2)|ovary(1)	3						c.(1483-1485)GTG>GTC		BTB (POZ) domain containing 11 isoform a							43.0	39.0	41.0					12																	107937911		2203	4300	6503	SO:0001819	synonymous_variant	121551					integral to membrane	DNA binding	g.chr12:107937911G>C	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1485G>C	12.37:g.107937911G>C						BTBD11_uc009zut.1_Silent_p.V495V|BTBD11_uc001tmj.2_Silent_p.V495V	p.V495V	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			3	2006	+			495					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	c.1485G>C	CCDS31893.1																																																																																				0.567	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		13	20	0	0	0	0.001855	0	13	20				
RPL6	6128	broad.mit.edu	37	12	112843710	112843710	+	Missense_Mutation	SNP	T	T	G	rs148929822	byFrequency	TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr12:112843710T>G	ENST00000424576.2	-	6	846	c.661A>C	c.(661-663)Aag>Cag	p.K221Q	RPL6_ENST00000202773.9_Missense_Mutation_p.K221Q	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	221					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K221Q(1)		cervix(1)|large_intestine(6)|lung(3)	10						TTCCGCAGCTTCTTCTTCTTG	0.423													T|||	5	0.000998403	0.0023	0.0029	5008	,	,		20900	0.0		0.0	False		,,,				2504	0.0						uc001ttu.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(661-663)AAG>CAG		ribosomal protein L6		T	GLN/LYS,GLN/LYS	7,4399	9.9+/-24.2	0,7,2196	76.0	82.0	80.0		661,661	1.2	1.0	12	dbSNP_134	80	2,8592	3.0+/-9.4	0,2,4295	no	missense,missense	RPL6	NM_000970.3,NM_001024662.1	53,53	0,9,6491	GG,GT,TT		0.0233,0.1589,0.0692	benign,benign	221/289,221/289	112843710	9,12991	2203	4297	6500	SO:0001583	missense	6128				endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome	g.chr12:112843710T>G	X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.661A>C	12.37:g.112843710T>G	ENSP00000403172:p.Lys221Gln					RPL6_uc001ttv.2_Missense_Mutation_p.K221Q	p.K221Q	NM_001024662	NP_001019833	Q02878	RL6_HUMAN			6	890	-			221					Q2M3Q3|Q8WW97	Missense_Mutation	SNP	ENST00000424576.2	37	c.661A>C	CCDS9162.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	T	10.66	1.413528	0.25465	0.001589	2.33E-4	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923	T;T	0.34859	1.34;1.34	5.05	1.19	0.21007	Translation protein SH3-like, subgroup (1);	0.231515	0.50627	N	0.000109	T	0.19685	0.0473	L	0.31294	0.92	0.43412	D	0.995553	B	0.12630	0.006	B	0.24269	0.052	T	0.05209	-1.0899	10	0.37606	T	0.19	.	12.6313	0.56659	0.0:0.0:0.4153:0.5847	.	221	Q02878	RL6_HUMAN	Q	221;221;161	ENSP00000202773:K221Q;ENSP00000403172:K221Q	ENSP00000202773:K221Q	K	-	1	0	RPL6	111328093	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	3.047000	0.49854	-0.035000	0.13691	-0.438000	0.05819	AAG		0.423	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1			14	37	0	0	0	0.00245	0	14	37				
TBX5	6910	broad.mit.edu	37	12	114793477	114793477	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr12:114793477G>T	ENST00000310346.4	-	9	2083	c.1417C>A	c.(1417-1419)Cag>Aag	p.Q473K	TBX5_ENST00000349716.5_Missense_Mutation_p.Q423K|TBX5_ENST00000405440.2_Missense_Mutation_p.Q473K	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	473					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		AGGCCAGTCTGAGGCCCACAC	0.627																																					NSCLC(152;1358 1980 4050 23898 40356)	NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(1417-1419)CAG>AAG		T-box 5 isoform 1							36.0	37.0	37.0					12																	114793477		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793477G>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1417C>A	12.37:g.114793477G>T	ENSP00000309913:p.Gln473Lys					TBX5_uc001tvp.2_Missense_Mutation_p.Q473K|TBX5_uc001tvq.2_Missense_Mutation_p.Q423K	p.Q473K	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	9	1912	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		473					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.1417C>A	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334404	0.41297	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.51325	0.71;0.71;0.71	5.42	5.42	0.78866	.	0.718325	0.14082	N	0.342616	T	0.36413	0.0966	L	0.32530	0.975	0.39495	D	0.968106	B	0.33694	0.421	B	0.25140	0.058	T	0.29274	-1.0017	10	0.09843	T	0.71	.	19.2304	0.93836	0.0:0.0:1.0:0.0	.	473	Q99593	TBX5_HUMAN	K	423;473;370;473	ENSP00000337723:Q423K;ENSP00000309913:Q473K;ENSP00000384152:Q473K	ENSP00000309913:Q473K	Q	-	1	0	TBX5	113277860	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.698000	0.68302	2.540000	0.85666	0.655000	0.94253	CAG		0.627	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		12	41	1	0	1.61879e-10	0.001368	2.49359e-10	12	41				
CCDC62	84660	broad.mit.edu	37	12	123270367	123270367	+	Splice_Site	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr12:123270367G>T	ENST00000253079.6	+	4	842	c.498G>T	c.(496-498)aaG>aaT	p.K166N	CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000392441.4_Splice_Site_p.K166N	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	166					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TAAAGCTAAAGGTAATCAAAA	0.408																																							uc001udc.2		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5						c.(496-498)AAG>AAT		coiled-coil domain containing 62 isoform b							117.0	111.0	113.0					12																	123270367		2203	4300	6503	SO:0001630	splice_region_variant	84660					cytoplasm|nucleus		g.chr12:123270367G>T		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.498+1G>T	12.37:g.123270367G>T						CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Missense_Mutation_p.K166N|CCDC62_uc001ude.2_Intron	p.K166N	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	4	643	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		166					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	c.498G>T	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396022	0.83011	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000539171	T;T;T	0.58506	1.05;1.05;0.33	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000008	T	0.75759	0.3893	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.973;0.999	T	0.76602	-0.2899	10	0.59425	D	0.04	-29.1016	15.6714	0.77279	0.0:0.0:1.0:0.0	.	166;166	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	N	166;166;46	ENSP00000253079:K166N;ENSP00000376236:K166N;ENSP00000439893:K46N	ENSP00000253079:K166N	K	+	3	2	CCDC62	121836320	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.645000	0.74343	2.840000	0.97914	0.655000	0.94253	AAG		0.408	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573	Missense_Mutation	25	47	1	0	7.87624e-14	0.00278	1.28463e-13	25	47				
FZD10	11211	broad.mit.edu	37	12	130649097	130649097	+	Missense_Mutation	SNP	G	G	T	rs138051070		TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr12:130649097G>T	ENST00000229030.4	+	1	2094	c.1610G>T	c.(1609-1611)cGt>cTt	p.R537L	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	537					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GTGTGCAGCCGTAGGTTAAAG	0.537																																							uc001uii.2		NA																	0				lung(3)|breast(1)|central_nervous_system(1)	5						c.(1609-1611)CGT>CTT		frizzled 10 precursor		G	LEU/ARG	0,4402		0,0,2201	33.0	37.0	35.0		1610	4.0	0.8	12	dbSNP_134	35	2,8598	1.2+/-3.3	0,2,4298	no	missense	FZD10	NM_007197.3	102	0,2,6499	TT,TG,GG		0.0233,0.0,0.0154	probably-damaging	537/582	130649097	2,13000	2201	4300	6501	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130649097G>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1610G>T	12.37:g.130649097G>T	ENSP00000229030:p.Arg537Leu					uc001uig.1_5'Flank|uc001uih.1_5'Flank	p.R537L	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	2066	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		537			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000229030.4	37	c.1610G>T	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447555	0.26074	0.0	2.33E-4	ENSG00000111432	ENST00000229030	D	0.85013	-1.93	4.87	3.95	0.45737	.	0.149481	0.40728	U	0.001024	D	0.86289	0.5897	M	0.87971	2.92	0.48341	D	0.999634	P	0.41597	0.756	B	0.43155	0.41	D	0.85642	0.1277	10	0.87932	D	0	.	6.1732	0.20429	0.1605:0.1581:0.6813:0.0	.	537	Q9ULW2	FZD10_HUMAN	L	537	ENSP00000229030:R537L	ENSP00000229030:R537L	R	+	2	0	FZD10	129215050	0.999000	0.42202	0.815000	0.32552	0.112000	0.19704	3.031000	0.49728	0.991000	0.38814	0.561000	0.74099	CGT		0.537	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				15	31	1	0	4.93089e-13	0.00245	7.95726e-13	15	31				
SACS	26278	broad.mit.edu	37	13	23914963	23914963	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr13:23914963C>G	ENST00000382292.3	-	9	3325	c.3052G>C	c.(3052-3054)Gag>Cag	p.E1018Q	SACS_ENST00000402364.1_Missense_Mutation_p.E268Q|SACS_ENST00000382298.3_Missense_Mutation_p.E1018Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1018					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GATAGATTCTCAAGGACCCAT	0.348																																							uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3052-3054)GAG>CAG		sacsin							119.0	122.0	121.0					13																	23914963		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914963C>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3052G>C	13.37:g.23914963C>G	ENSP00000371729:p.Glu1018Gln					SACS_uc001uoo.2_Missense_Mutation_p.E871Q|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.E1018Q	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3641	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1018					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.3052G>C	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503628	0.26949	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86627	-2.01;-2.15;-2.01	6.05	6.05	0.98169	.	0.155386	0.56097	D	0.000022	T	0.79275	0.4418	N	0.14661	0.345	0.31853	N	0.621976	B	0.13594	0.008	B	0.10450	0.005	T	0.70241	-0.4926	10	0.17832	T	0.49	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	1018	Q9NZJ4	SACS_HUMAN	Q	1018;268;1018	ENSP00000371729:E1018Q;ENSP00000385844:E268Q;ENSP00000371735:E1018Q	ENSP00000371729:E1018Q	E	-	1	0	SACS	22812963	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.647000	0.61418	2.878000	0.98634	0.650000	0.86243	GAG		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		3	70	0	0	0	0.000248	0	3	70				
FOXO1	2308	broad.mit.edu	37	13	41134854	41134854	+	Silent	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr13:41134854G>A	ENST00000379561.5	-	2	1158	c.774C>T	c.(772-774)gaC>gaT	p.D258D	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	258					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TACTGTTGTTGTCCATGGATG	0.522																																							uc001uxl.3		NA																PAX3/FOXO1(749)|PAX7/FOXO1(197)	0				soft_tissue(946)|lung(1)|central_nervous_system(1)	948						c.(772-774)GAC>GAT		forkhead box O1							104.0	102.0	103.0					13																	41134854		2203	4300	6503	SO:0001819	synonymous_variant	2308				anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr13:41134854G>A		CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.774C>T	13.37:g.41134854G>A						FOXO1_uc010acc.1_Silent_p.D73D	p.D258D	NM_002015	NP_002006	Q12778	FOXO1_HUMAN		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)	2	1159	-		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	258					O43523|Q5VYC7|Q6NSK6	Silent	SNP	ENST00000379561.5	37	c.774C>T	CCDS9371.1																																																																																				0.522	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015		48	27	0	0	0	0.00361	0	48	27				
STXBP6	29091	broad.mit.edu	37	14	25326295	25326295	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr14:25326295C>A	ENST00000323944.5	-	3	674	c.223G>T	c.(223-225)Gtt>Ttt	p.V75F	STXBP6_ENST00000358326.2_Missense_Mutation_p.V75F|STXBP6_ENST00000550887.1_Missense_Mutation_p.V75F|STXBP6_ENST00000548724.1_Missense_Mutation_p.V75F|STXBP6_ENST00000419632.2_Missense_Mutation_p.V75F|STXBP6_ENST00000546511.1_Missense_Mutation_p.V75F|STXBP6_ENST00000396700.1_Missense_Mutation_p.V75F			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	75					negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		GATCTCCGAACAAATGATGTG	0.463																																							uc001wpu.2		NA																	0					0						c.(223-225)GTT>TTT		amisyn							239.0	211.0	220.0					14																	25326295		2203	4300	6503	SO:0001583	missense	29091				vesicle-mediated transport	cytoplasm|integral to membrane		g.chr14:25326295C>A	AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952			19666	protein-coding gene	gene with protein product		607958				12145319	Standard	NM_014178		Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.223G>T	14.37:g.25326295C>A	ENSP00000324302:p.Val75Phe					STXBP6_uc001wpv.2_Missense_Mutation_p.V75F|STXBP6_uc001wpw.2_Missense_Mutation_p.V75F|STXBP6_uc001wpx.1_RNA	p.V75F	NM_014178	NP_054897	Q8NFX7	STXB6_HUMAN		GBM - Glioblastoma multiforme(265;0.0296)	3	938	-			75					D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Missense_Mutation	SNP	ENST00000323944.5	37	c.223G>T	CCDS9634.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111856	0.77210	.	.	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000358326	.	.	.	5.84	5.84	0.93424	.	0.189981	0.46442	D	0.000300	T	0.41305	0.1153	L	0.36672	1.1	0.58432	D	0.999999	P	0.40476	0.718	B	0.27796	0.083	T	0.47935	-0.9078	9	0.66056	D	0.02	-18.1811	17.6318	0.88111	0.0:1.0:0.0:0.0	.	75	Q8NFX7	STXB6_HUMAN	F	75	.	ENSP00000324302:V75F	V	-	1	0	STXBP6	24396135	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.904000	0.63279	2.779000	0.95612	0.655000	0.94253	GTT		0.463	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1			45	78	1	0	9.84934e-19	0.002522	1.73644e-18	45	78				
SLC8A3	6547	broad.mit.edu	37	14	70633417	70633417	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr14:70633417C>A	ENST00000381269.2	-	2	2476	c.1723G>T	c.(1723-1725)Ggt>Tgt	p.G575C	SLC8A3_ENST00000534137.1_Missense_Mutation_p.G575C|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G575C|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G575C|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G575C	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	575	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCACCGCCACCCTTGGCTGTC	0.512																																							uc001xly.2		NA																	0				skin(3)|ovary(2)|breast(2)	7						c.(1723-1725)GGT>TGT		solute carrier family 8 (sodium/calcium							116.0	112.0	114.0					14																	70633417		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633417C>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1723G>T	14.37:g.70633417C>A	ENSP00000370669:p.Gly575Cys					SLC8A3_uc001xlw.2_Missense_Mutation_p.G575C|SLC8A3_uc001xlx.2_Missense_Mutation_p.G575C|SLC8A3_uc001xlz.2_Missense_Mutation_p.G575C|SLC8A3_uc010ara.2_RNA	p.G575C	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2477	-			575			Calx-beta 2.|Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1723G>T	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427656	0.62733	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.69	5.69	0.88448	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.63850	0.2546	M	0.87328	2.875	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.67333	-0.5697	10	0.54805	T	0.06	.	19.8067	0.96534	0.0:1.0:0.0:0.0	.	575;575;575;575	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	C	575	ENSP00000349392:G575C;ENSP00000370669:G575C;ENSP00000350560:G575C;ENSP00000436688:G575C;ENSP00000433531:G575C	ENSP00000349392:G575C	G	-	1	0	SLC8A3	69703170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.672000	0.90937	0.650000	0.86243	GGT		0.512	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			28	48	1	0	4.59853e-10	0.005443	6.94332e-10	28	48				
TTC8	123016	broad.mit.edu	37	14	89341421	89341421	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr14:89341421C>T	ENST00000345383.5	+	13	1453	c.1369C>T	c.(1369-1371)Ccg>Tcg	p.P457S	TTC8_ENST00000338104.6_Missense_Mutation_p.P483S|TTC8_ENST00000354441.6_Missense_Mutation_p.P202S|TTC8_ENST00000358622.5_Missense_Mutation_p.P269S|TTC8_ENST00000536576.1_Missense_Mutation_p.P228S|TTC8_ENST00000346301.4_Missense_Mutation_p.P427S|TTC8_ENST00000380656.2_Missense_Mutation_p.P467S	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	493					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TATGTATGAACCGCATTTTAA	0.299																																							uc010ath.2		NA																	0					0						c.(1447-1449)CCG>TCG		tetratricopeptide repeat domain 8 isoform B							147.0	139.0	142.0					14																	89341421		2203	4297	6500	SO:0001583	missense	123016	Bardet-Biedl_syndrome			cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89341421C>T	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1369C>T	14.37:g.89341421C>T	ENSP00000339486:p.Pro457Ser					TTC8_uc001xxl.2_Missense_Mutation_p.P228S|TTC8_uc010ati.2_Missense_Mutation_p.P269S|TTC8_uc001xxm.2_Intron|TTC8_uc010atj.2_Missense_Mutation_p.P202S|TTC8_uc001xxi.2_Missense_Mutation_p.P467S|TTC8_uc001xxj.2_Missense_Mutation_p.P457S|TTC8_uc001xxk.2_Missense_Mutation_p.P427S	p.P483S	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN			14	1581	+			493					A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.1447C>T	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.979107|3.979107	0.74360|0.74360	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622|ENST00000557580	T;T;T;T;T;T;T|.	0.53423|.	0.62;0.69;0.62;0.62;0.69;0.62;0.62|.	5.45|5.45	4.56|4.56	0.56223|0.56223	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75917|0.75917	0.3915|0.3915	M|M	0.78637|0.78637	2.42|2.42	0.58432|0.58432	D|D	0.999998|0.999998	D;P;B;P;P|.	0.76494|.	0.999;0.782;0.043;0.92;0.861|.	D;B;B;P;P|.	0.72075|.	0.976;0.411;0.057;0.73;0.73|.	T|T	0.77477|0.77477	-0.2573|-0.2573	10|5	0.44086|.	T|.	0.13|.	-16.3163|-16.3163	16.3851|16.3851	0.83502|0.83502	0.0:0.8682:0.1318:0.0|0.0:0.8682:0.1318:0.0	.|.	202;228;493;437;467|.	Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4|.	.;.;TTC8_HUMAN;.;.|.	S|I	457;228;427;483;202;467;269|255	ENSP00000339486:P457S;ENSP00000445067:P228S;ENSP00000298324:P427S;ENSP00000337653:P483S;ENSP00000346427:P202S;ENSP00000370031:P467S;ENSP00000351439:P269S|.	ENSP00000337653:P483S|.	P|T	+|+	1|2	0|0	TTC8|TTC8	88411174|88411174	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.964000|0.964000	0.63967|0.63967	6.630000|6.630000	0.74272|0.74272	1.299000|1.299000	0.44798|0.44798	0.555000|0.555000	0.69702|0.69702	CCG|ACC		0.299	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		21	37	0	0	0	0.002299	0	21	37				
SLC24A4	123041	broad.mit.edu	37	14	92909770	92909770	+	Silent	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr14:92909770G>T	ENST00000532405.1	+	7	835	c.609G>T	c.(607-609)gtG>gtT	p.V203V	SLC24A4_ENST00000393265.2_Silent_p.V139V|SLC24A4_ENST00000531433.1_Silent_p.V203V|SLC24A4_ENST00000298877.1_Silent_p.V186V|SLC24A4_ENST00000351924.5_Silent_p.V186V			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	203					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GGTGGGCCGTGTGCCGAGACT	0.657																																					NSCLC(10;315 435 10383 28450 38798)	NSCLC(10;315 435 10383 28450 38798)	uc001yak.2		NA																	0				breast(2)|ovary(1)	3						c.(556-558)GTG>GTT		solute carrier family 24 member 4 isoform 1							201.0	136.0	158.0					14																	92909770		2203	4300	6503	SO:0001819	synonymous_variant	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92909770G>T	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.609G>T	14.37:g.92909770G>T						SLC24A4_uc001yai.2_Silent_p.V139V|SLC24A4_uc010twm.1_Silent_p.V203V|SLC24A4_uc001yaj.2_Silent_p.V186V|SLC24A4_uc010auj.2_Silent_p.V94V|SLC24A4_uc010twn.1_5'UTR	p.V186V	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	7	582	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	203			Helical; (Potential).		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Silent	SNP	ENST00000532405.1	37	c.558G>T	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	G	11.30	1.599136	0.28534	.	.	ENSG00000140090	ENST00000525557	T	0.63417	-0.04	4.99	4.99	0.66335	.	0.060544	0.64402	D	0.000003	T	0.48943	0.1528	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44174	-0.9345	7	0.02654	T	1	.	16.4342	0.83869	0.0:0.0:1.0:0.0	.	.	.	.	L	88	ENSP00000432464:V88L	ENSP00000432464:V88L	V	+	1	0	SLC24A4	91979523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.284000	0.51708	2.304000	0.77564	0.462000	0.41574	GTG		0.657	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		29	40	1	0	1.88708e-17	0.008361	3.25175e-17	29	40				
PGBD4	161779	broad.mit.edu	37	15	34395533	34395533	+	Silent	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr15:34395533G>A	ENST00000397766.2	+	1	1260	c.801G>A	c.(799-801)ccG>ccA	p.P267P	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	267										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		AGTACCTCCCGACAAAACGAG	0.413																																							uc001zho.2		NA																	0					0						c.(799-801)CCG>CCA		piggyBac transposable element derived 4							69.0	59.0	62.0					15																	34395533		2201	4298	6499	SO:0001819	synonymous_variant	161779							g.chr15:34395533G>A	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.801G>A	15.37:g.34395533G>A						C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	p.P267P	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	1260	+		all_lung(180;1.76e-08)	267					A1L487|A8K0C6|Q8N9E8	Silent	SNP	ENST00000397766.2	37	c.801G>A	CCDS10033.1																																																																																				0.413	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			9	16	0	0	0	0.004482	0	9	16				
DISP2	85455	broad.mit.edu	37	15	40655997	40655997	+	Silent	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr15:40655997G>A	ENST00000267889.3	+	2	378	c.291G>A	c.(289-291)cgG>cgA	p.R97R		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	97					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCTATCCCCGGGCACTGCAGG	0.657																																							uc001zlk.1		NA																	0				ovary(2)	2						c.(289-291)CGG>CGA		dispatched B							51.0	53.0	52.0					15																	40655997		2203	4300	6503	SO:0001819	synonymous_variant	85455				smoothened signaling pathway	integral to membrane		g.chr15:40655997G>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.291G>A	15.37:g.40655997G>A							p.R97R	NM_033510	NP_277045	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	2	380	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	97					Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	c.291G>A	CCDS10056.1																																																																																				0.657	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		24	34	0	0	0	0.00278	0	24	34				
GOLGA6L3	100133220	broad.mit.edu	37	15	85787980	85787980	+	IGR	SNP	T	T	G	rs201352385	byFrequency	TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr15:85787980T>G								RP11-561C5.4 (9964 upstream) : RP11-561C5.5 (81644 downstream)																							TACGTGAACATGAGGAGAGGC	0.562													g|||	1285	0.256589	0.4501	0.1744	5008	,	,		13696	0.248		0.1143	False		,,,				2504	0.2086						uc010upj.1		NA																	0					NA						c.(721-723)CAT>CAG		golgi autoantigen, golgin subfamily a, 6D-like																																				SO:0001628	intergenic_variant	0							g.chr15:85787980T>G																													15.37:g.85787980T>G						uc010upk.1_5'Flank	p.H241Q	NM_198181	NP_937824					6	788	+									Missense_Mutation	SNP		37	c.723T>G																																																																																				0	0.562									2	2	0	0	0	0.004672	0	2	2				
OR4F6	390648	broad.mit.edu	37	15	102346553	102346553	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr15:102346553T>C	ENST00000328882.4	+	1	652	c.631T>C	c.(631-633)Ttt>Ctt	p.F211L		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCTGGCTTCTTTTTTAATTCT	0.363																																							uc010utr.1		NA																	0				ovary(1)	1						c.(631-633)TTT>CTT		olfactory receptor, family 4, subfamily F,							118.0	122.0	121.0					15																	102346553		2202	4300	6502	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346553T>C	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.631T>C	15.37:g.102346553T>C	ENSP00000327525:p.Phe211Leu						p.F211L	NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	631	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		211			Helical; Name=5; (Potential).		B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.631T>C	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	10.08	1.251387	0.22880	.	.	ENSG00000184140	ENST00000328882	T	0.32988	1.43	4.64	4.64	0.57946	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000061	T	0.41351	0.1155	L	0.58428	1.81	0.09310	N	1	P	0.44877	0.845	P	0.50825	0.651	T	0.32508	-0.9904	10	0.72032	D	0.01	.	12.3075	0.54910	0.0:0.0:0.0:1.0	.	211	Q8NGB9	OR4F6_HUMAN	L	211	ENSP00000327525:F211L	ENSP00000327525:F211L	F	+	1	0	OR4F6	100164076	0.749000	0.28305	0.011000	0.14972	0.009000	0.06853	2.858000	0.48356	2.075000	0.62263	0.482000	0.46254	TTT		0.363	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			40	31	0	0	0	0.005524	0	40	31				
ADCY9	115	broad.mit.edu	37	16	4164490	4164490	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr16:4164490C>A	ENST00000294016.3	-	2	1492	c.954G>T	c.(952-954)atG>atT	p.M318I		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	318					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTTCCCGTGCATAATGGATT	0.547																																							uc002cvx.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(952-954)ATG>ATT		adenylate cyclase 9							118.0	115.0	116.0					16																	4164490		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4164490C>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.954G>T	16.37:g.4164490C>A	ENSP00000294016:p.Met318Ile						p.M318I	NM_001116	NP_001107	O60503	ADCY9_HUMAN			2	1493	-			318			Cytoplasmic (Potential).		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.954G>T	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623593	0.46840	.	.	ENSG00000162104	ENST00000294016	D	0.83163	-1.69	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.88108	0.6348	M	0.72118	2.19	0.58432	D	0.999991	D	0.58268	0.982	P	0.55615	0.78	D	0.85241	0.1038	10	0.22109	T	0.4	.	19.2808	0.94052	0.0:1.0:0.0:0.0	.	318	O60503	ADCY9_HUMAN	I	318	ENSP00000294016:M318I	ENSP00000294016:M318I	M	-	3	0	ADCY9	4104491	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	5.999000	0.70665	2.574000	0.86865	0.555000	0.69702	ATG		0.547	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			37	40	1	0	5.43694e-19	0.005524	9.64108e-19	37	40				
USP31	57478	broad.mit.edu	37	16	23080722	23080722	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr16:23080722C>A	ENST00000219689.7	-	16	2703	c.2704G>T	c.(2704-2706)Gca>Tca	p.A902S	USP31_ENST00000567975.1_Missense_Mutation_p.A195S	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCATCTGCTGCCTCCCCAATC	0.522																																							uc002dll.2		NA																	0				ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10						c.(2704-2706)GCA>TCA		ubiquitin specific peptidase 31							59.0	55.0	56.0					16																	23080722		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080722C>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2704G>T	16.37:g.23080722C>A	ENSP00000219689:p.Ala902Ser					USP31_uc002dlk.2_Missense_Mutation_p.A174S|USP31_uc010vca.1_Missense_Mutation_p.A205S|USP31_uc010bxm.2_Missense_Mutation_p.A190S	p.A902S	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	2704	-			902			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.2704G>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223634	0.58668	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.10477	2.87	6.16	6.16	0.99307	.	0.261494	0.30338	N	0.009847	T	0.17195	0.0413	L	0.54323	1.7	0.58432	D	0.999997	P;B;P	0.46784	0.884;0.184;0.459	B;B;B	0.43623	0.292;0.083;0.425	T	0.00240	-1.1887	10	0.36615	T	0.2	-17.586	19.848	0.96722	0.0:1.0:0.0:0.0	.	205;902;195	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	S	902;205	ENSP00000219689:A902S	ENSP00000219689:A902S	A	-	1	0	USP31	22988223	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	5.633000	0.67825	2.937000	0.99478	0.650000	0.86243	GCA		0.522	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		12	24	1	0	1.08611e-07	0.000978	1.50574e-07	12	24				
KIAA0556	23247	broad.mit.edu	37	16	27789020	27789020	+	Silent	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr16:27789020C>T	ENST00000261588.4	+	26	4660	c.4641C>T	c.(4639-4641)acC>acT	p.T1547T		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1547						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTGAGCCCACCGTGCCCTACC	0.642																																							uc002dow.2		NA																	0				ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(4639-4641)ACC>ACT		hypothetical protein LOC23247							123.0	101.0	108.0					16																	27789020		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27789020C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4641C>T	16.37:g.27789020C>T						KIAA0556_uc010vco.1_Silent_p.T49T	p.T1547T	NM_015202	NP_056017	O60303	K0556_HUMAN			26	4665	+			1547					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.4641C>T	CCDS32415.1																																																																																				0.642	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		8	72	0	0	0	0.006214	0	8	72				
SLC6A10P	386757	broad.mit.edu	37	16	32890646	32890646	+	RNA	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr16:32890646C>A	ENST00000330048.5	-	0	3152					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		GCTTGTAGTACACAACGTTGA	0.637																																							uc002edh.1		NA																	0					0						c.(238-240)GTG>GTT		RecName: Full=Transporter;																																						386757							g.chr16:32890646C>A	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890646C>A						SLC6A10P_uc002edi.1_RNA	p.V80V							5	416	-									Silent	SNP	ENST00000330048.5	37	c.240G>T																																																																																					0.637	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			12	23	1	0	2.27111e-07	0.001368	3.09236e-07	12	23				
NDRG4	65009	broad.mit.edu	37	16	58537784	58537784	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr16:58537784C>A	ENST00000570248.1	+	2	210	c.104C>A	c.(103-105)aCc>aAc	p.T35N	NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000568640.1_Missense_Mutation_p.T53N|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000394282.4_Missense_Mutation_p.T87N|NDRG4_ENST00000394279.2_Missense_Mutation_p.T67N|NDRG4_ENST00000566192.1_Missense_Mutation_p.T35N|NDRG4_ENST00000356752.4_Missense_Mutation_p.T65N|NDRG4_ENST00000562999.1_Missense_Mutation_p.T35N|NDRG4_ENST00000563799.1_Missense_Mutation_p.T35N|NDRG4_ENST00000258187.5_Missense_Mutation_p.T67N	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	35					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GCCATCCTCACCTACCATGAT	0.637																																							uc002eno.2		NA																	0				skin(1)	1						c.(103-105)ACC>AAC		NDRG family member 4 isoform 1							85.0	69.0	75.0					16																	58537784		2198	4300	6498	SO:0001583	missense	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58537784C>A	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.104C>A	16.37:g.58537784C>A	ENSP00000457659:p.Thr35Asn					NDRG4_uc002enk.2_Missense_Mutation_p.T67N|NDRG4_uc002enm.2_Missense_Mutation_p.T87N|NDRG4_uc010vif.1_Missense_Mutation_p.T67N|NDRG4_uc010cdk.2_Missense_Mutation_p.T35N|NDRG4_uc010vig.1_Missense_Mutation_p.T65N|NDRG4_uc010vih.1_5'UTR|NDRG4_uc010vii.1_Missense_Mutation_p.T53N|NDRG4_uc002enp.2_Missense_Mutation_p.T35N|NDRG4_uc002enq.1_5'Flank	p.T35N	NM_022910	NP_075061	Q9ULP0	NDRG4_HUMAN			2	210	+			35					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Missense_Mutation	SNP	ENST00000570248.1	37	c.104C>A	CCDS58466.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830136	0.91036	.	.	ENSG00000103034	ENST00000258187;ENST00000394282;ENST00000394279;ENST00000356752	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.91663	3.23	0.80722	D	1	D;D;D;D;D;P;P	0.89917	1.0;1.0;1.0;0.988;1.0;0.818;0.576	D;D;D;D;D;P;B	0.91635	0.998;0.999;0.998;0.979;0.998;0.52;0.345	T	0.77504	-0.2563	10	0.87932	D	0	-37.9394	16.109	0.81247	0.0:1.0:0.0:0.0	.	53;65;35;35;35;87;67	B4DK66;B4DSW5;Q9ULP0-5;Q9ULP0-2;Q9ULP0;Q9ULP0-6;Q9ULP0-3	.;.;.;.;NDRG4_HUMAN;.;.	N	67;87;67;65	ENSP00000258187:T67N;ENSP00000377823:T87N;ENSP00000377820:T67N;ENSP00000349193:T65N	ENSP00000258187:T67N	T	+	2	0	NDRG4	57095285	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.436000	0.80404	2.133000	0.65898	0.555000	0.69702	ACC		0.637	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			18	28	1	0	0.000132079	0.008871	0.000170695	18	28				
CHST4	10164	broad.mit.edu	37	16	71571481	71571481	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr16:71571481C>T	ENST00000338482.5	+	3	1244	c.901C>T	c.(901-903)Cat>Tat	p.H301Y	CHST4_ENST00000539698.3_Missense_Mutation_p.H301Y|CHST4_ENST00000572450.1_Missense_Mutation_p.H301Y|ZNF19_ENST00000568446.1_Intron|RP11-510M2.5_ENST00000568523.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	301					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ATTCTTGCCCCATCTTCAGAC	0.562											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002fan.2		NA																	0					0						c.(901-903)CAT>TAT		carbohydrate (N-acetylglucosamine 6-O)							97.0	80.0	86.0					16																	71571481		2198	4300	6498	SO:0001583	missense	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71571481C>T	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.901C>T	16.37:g.71571481C>T	ENSP00000341206:p.His301Tyr		OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1131	CHST4_uc002fao.2_Missense_Mutation_p.H301Y	p.H301Y	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN			2	1082	+			301			Lumenal (Potential).		Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.901C>T	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	C	4.154	0.026956	0.08054	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.81821	-1.54;-1.54	6.02	1.74	0.24563	Sulfotransferase domain (1);	1.070350	0.07049	N	0.831663	T	0.74535	0.3729	L	0.53249	1.67	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.60265	-0.7297	10	0.59425	D	0.04	-23.9634	4.3706	0.11246	0.1446:0.5151:0.0:0.3402	.	301	Q8NCG5	CHST4_HUMAN	Y	301	ENSP00000341206:H301Y;ENSP00000441204:H301Y	ENSP00000341206:H301Y	H	+	1	0	CHST4	70128982	0.000000	0.05858	0.004000	0.12327	0.064000	0.16182	0.475000	0.22164	0.092000	0.17331	-0.137000	0.14449	CAT		0.562	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		16	34	0	0	0	0.004007	0	16	34				
MC1R	4157	broad.mit.edu	37	16	89985766	89985766	+	Missense_Mutation	SNP	C	C	T	rs376679503		TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr16:89985766C>T	ENST00000555147.1	+	1	1480	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	MC1R_ENST00000555427.1_Missense_Mutation_p.R34W|RP11-566K11.4_ENST00000554623.1_RNA|RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000554444.1_5'Flank|TUBB3_ENST00000556922.1_Missense_Mutation_p.R34W	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	34					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GACAGGAGCCCGGTGCCTGGA	0.647									Melanoma, Familial Clustering of																														uc002fpf.2		NA																	0				ovary(2)|pancreas(1)	3						c.(100-102)CGG>TGG		tubulin, beta, 4		C	TRP/ARG	0,3914		0,0,1957	30.0	35.0	33.0		100	-9.1	0.0	16		33	2,8256		0,2,4127	no	missense	MC1R	NM_002386.3	101	0,2,6084	TT,TC,CC		0.0242,0.0,0.0164		34/318	89985766	2,12170	1957	4129	6086	SO:0001583	missense	10381		Familial Cancer Database		'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:89985766C>T		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.100C>T	16.37:g.89985766C>T	ENSP00000451605:p.Arg34Trp					MC1R_uc002fpe.3_Missense_Mutation_p.R34W|TUBB3_uc010ciz.1_5'Flank	p.R34W	NM_006086	NP_006077	Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	1	508	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Missense_Mutation	SNP	ENST00000555147.1	37	c.100C>T	CCDS56011.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514372	0.27123	0.0	2.42E-4	ENSG00000258947;ENSG00000258947;ENSG00000258839	ENST00000555427;ENST00000556922;ENST00000555147	T;T;T	0.62941	0.33;-0.01;0.27	4.56	-9.12	0.00707	.	2.019750	0.03339	N	0.194451	T	0.22975	0.0555	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15492	-1.0435	9	.	.	.	.	2.245	0.04029	0.2033:0.2345:0.0861:0.4761	.	34	Q01726	MSHR_HUMAN	W	34	ENSP00000451760:R34W;ENSP00000451560:R34W;ENSP00000451605:R34W	.	R	+	1	2	MC1R;RP11-566K11.2	88513267	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.353000	0.07691	-1.712000	0.01393	-0.384000	0.06662	CGG		0.647	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		3	27	0	0	0	0.004672	0	3	27				
TP53	7157	broad.mit.edu	37	17	7578455	7578455	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr17:7578455C>G	ENST00000269305.4	-	5	664	c.475G>C	c.(475-477)Gcc>Ccc	p.A159P	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.A159P|TP53_ENST00000455263.2_Missense_Mutation_p.A159P|TP53_ENST00000445888.2_Missense_Mutation_p.A159P|TP53_ENST00000413465.2_Missense_Mutation_p.A159P|TP53_ENST00000359597.4_Missense_Mutation_p.A159P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	159	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A159P(19)|p.0?(8)|p.A159T(7)|p.R158fs(6)|p.R158fs*11(6)|p.A159fs*11(4)|p.A159S(4)|p.R65fs(2)|p.A27P(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.A66P(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGCCATGGCGCGGACGCGG	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		85	Substitution - Missense(34)|Deletion - Frameshift(18)|Deletion - In frame(12)|Complex(10)|Whole gene deletion(8)|Complex - frameshift(2)|Insertion - In frame(1)	p.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R158fs*11(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(20)|central_nervous_system(18)|oesophagus(8)|liver(6)|stomach(5)|breast(5)|upper_aerodigestive_tract(4)|urinary_tract(4)|bone(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(2)|thyroid(1)|soft_tissue(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(475-477)GCC>CCC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	51.0	50.0					17																	7578455		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578455C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.475G>C	17.37:g.7578455C>G	ENSP00000269305:p.Ala159Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.A159P|TP53_uc002gih.2_Missense_Mutation_p.A159P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27P|TP53_uc010cng.1_Missense_Mutation_p.A27P|TP53_uc002gii.1_Missense_Mutation_p.A27P|TP53_uc010cnh.1_Missense_Mutation_p.A159P|TP53_uc010cni.1_Missense_Mutation_p.A159P|TP53_uc002gij.2_Missense_Mutation_p.A159P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66P|TP53_uc002gio.2_Missense_Mutation_p.A27P|TP53_uc010vug.1_Missense_Mutation_p.A120P	p.A159P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	669	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	159		A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.475G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209010	0.58343	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	5.59	2.4	0.29515	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.053992	0.64402	D	0.000001	D	0.99816	0.9919	M	0.89840	3.065	0.51767	D	0.999938	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;0.997;0.995;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.986;0.995;0.997;0.996;0.987;0.998	D	0.98681	1.0692	10	0.87932	D	0	-9.0177	6.1221	0.20159	0.0:0.6615:0.1535:0.185	.	120;159;159;66;159;159;159	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	159;159;159;159;159;159;148;66;27;66;27;159	ENSP00000410739:A159P;ENSP00000352610:A159P;ENSP00000269305:A159P;ENSP00000398846:A159P;ENSP00000391127:A159P;ENSP00000391478:A159P;ENSP00000425104:A27P;ENSP00000423862:A66P;ENSP00000424104:A159P	ENSP00000269305:A159P	A	-	1	0	TP53	7519180	1.000000	0.71417	0.149000	0.22428	0.179000	0.23085	4.930000	0.63462	0.333000	0.23563	0.655000	0.94253	GCC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	14	0	0	0	0.003954	0	25	14				
DHRS11	79154	broad.mit.edu	37	17	34958541	34958541	+	IGR	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr17:34958541G>A	ENST00000251312.5	+	0	1598				MRM1_ENST00000250156.7_Missense_Mutation_p.R101Q|MRM1_ENST00000585770.1_5'UTR	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						CCAGTTCTGCGGCCCAGACGG	0.687																																							uc002hne.2		NA																	0					0						c.(301-303)CGG>CAG		mitochondrial rRNA methyltransferase 1 homolog							22.0	26.0	24.0					17																	34958541		2193	4289	6482	SO:0001628	intergenic_variant	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34958541G>A		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958541G>A						MRM1_uc002hnf.2_5'UTR	p.R101Q	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	1	517	+		Breast(25;0.00957)|Ovarian(249;0.17)	101					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.302G>A	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	G	13.91	2.379029	0.42207	.	.	ENSG00000129282	ENST00000250156	T	0.30182	1.54	4.9	3.87	0.44632	RNA 2-O ribose methyltransferase, substrate binding (2);	0.468764	0.19888	N	0.103819	T	0.19167	0.0460	L	0.37630	1.12	0.27002	N	0.964898	P	0.34629	0.46	B	0.29942	0.109	T	0.07083	-1.0791	10	0.27785	T	0.31	-10.3926	6.7062	0.23252	0.0958:0.0:0.7258:0.1784	.	101	Q6IN84	MRM1_HUMAN	Q	101	ENSP00000250156:R101Q	ENSP00000250156:R101Q	R	+	2	0	MRM1	32032654	0.936000	0.31750	0.921000	0.36526	0.678000	0.39670	1.056000	0.30480	2.423000	0.82170	0.555000	0.69702	CGG		0.687	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		24	29	0	0	0	0.003954	0	24	29				
EFCAB13	124989	broad.mit.edu	37	17	45473278	45473278	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr17:45473278C>G	ENST00000331493.2	+	17	2291	c.1880C>G	c.(1879-1881)tCt>tGt	p.S627C	EFCAB13_ENST00000517484.1_Missense_Mutation_p.S531C	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	627						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										AATACTCTGTCTAGTTTGAAT	0.353																																							uc002iln.2		NA																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(1879-1881)TCT>TGT		hypothetical protein LOC124989							109.0	112.0	111.0					17																	45473278		2203	4300	6503	SO:0001583	missense	124989						calcium ion binding	g.chr17:45473278C>G	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1880C>G	17.37:g.45473278C>G	ENSP00000332111:p.Ser627Cys					C17orf57_uc002ilm.2_Missense_Mutation_p.S531C	p.S627C	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN			17	2291	+			627					G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.1880C>G	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	c	12.80	2.046067	0.36085	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000523842	T;T;T	0.32515	1.45;1.45;1.45	3.81	3.81	0.43845	EF-hand-like domain (1);	0.631577	0.13988	N	0.349029	T	0.50769	0.1635	M	0.62723	1.935	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	D;D	0.76071	0.982;0.987	T	0.29822	-0.9999	10	0.87932	D	0	-0.3517	11.495	0.50402	0.0:1.0:0.0:0.0	.	627;531	Q8IY85;G3V128	CQ057_HUMAN;.	C	627;531;153	ENSP00000332111:S627C;ENSP00000430048:S531C;ENSP00000429566:S153C	ENSP00000332111:S627C	S	+	2	0	C17orf57	42828277	0.309000	0.24518	0.141000	0.22245	0.431000	0.31685	1.266000	0.33039	2.391000	0.81399	0.586000	0.80456	TCT		0.353	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		4	58	0	0	0	0.000248	0	4	58				
TEX14	56155	broad.mit.edu	37	17	56676480	56676480	+	Silent	SNP	G	G	A	rs114600472	byFrequency	TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr17:56676480G>A	ENST00000240361.8	-	14	2329	c.2244C>T	c.(2242-2244)caC>caT	p.H748H	TEX14_ENST00000349033.5_Silent_p.H742H|TEX14_ENST00000389934.3_Silent_p.H742H			Q8IWB6	TEX14_HUMAN	testis expressed 14	748					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATCATTCTCGTGCATTATTG	0.428													A|||	4	0.000798722	0.003	0.0	5008	,	,		21574	0.0		0.0	False		,,,				2504	0.0						uc010dcz.1		NA																	0				stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(2242-2244)CAC>CAT		testis expressed sequence 14 isoform a		A	,,	3,4403	825.9+/-416.6	0,3,2200	278.0	258.0	265.0		2244,2226,2226	-6.1	0.1	17	dbSNP_132	265	0,8600		0,0,4300	yes	coding-synonymous,coding-synonymous,coding-synonymous	TEX14	NM_001201457.1,NM_031272.4,NM_198393.3	,,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,,	748/1498,742/1452,742/1492	56676480	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56676480G>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2244C>T	17.37:g.56676480G>A						TEX14_uc002iwr.1_Silent_p.H742H|TEX14_uc002iws.1_Silent_p.H742H|TEX14_uc010dda.1_Silent_p.H522H	p.H748H	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			14	2362	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		748			Potential.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	37	c.2244C>T	CCDS56042.1																																																																																				0.428	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			53	134	0	0	0	0.00361	0	53	134				
TEX14	56155	broad.mit.edu	37	17	56700349	56700349	+	Silent	SNP	A	A	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr17:56700349A>T	ENST00000240361.8	-	4	361	c.276T>A	c.(274-276)ccT>ccA	p.P92P	TEX14_ENST00000349033.5_Silent_p.P92P|TEX14_ENST00000389934.3_Silent_p.P92P			Q8IWB6	TEX14_HUMAN	testis expressed 14	92					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCATGGACAGGGGTGCTCC	0.567																																							uc010dcz.1		NA																	0				stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(274-276)CCT>CCA		testis expressed sequence 14 isoform a							74.0	54.0	61.0					17																	56700349		2203	4300	6503	SO:0001819	synonymous_variant	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56700349A>T	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.276T>A	17.37:g.56700349A>T						TEX14_uc002iwr.1_Silent_p.P92P|TEX14_uc002iws.1_Silent_p.P92P|TEX14_uc010dda.1_5'UTR	p.P92P	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			4	394	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		92			ANK 3.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	37	c.276T>A	CCDS56042.1																																																																																				0.567	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			13	38	0	0	0	0.001368	0	13	38				
RNMT	8731	broad.mit.edu	37	18	13737099	13737099	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr18:13737099G>A	ENST00000383314.2	+	5	884	c.644G>A	c.(643-645)tGg>tAg	p.W215*	RNMT_ENST00000589866.1_Nonsense_Mutation_p.W215*|RNMT_ENST00000262173.3_Nonsense_Mutation_p.W215*|RNMT_ENST00000543302.2_Nonsense_Mutation_p.W215*|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000592764.1_Nonsense_Mutation_p.W215*			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	215	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						TTGCTGAAATGGAAAAAAGGA	0.328																																					GBM(29;474 594 19092 36647 41529)	GBM(29;474 594 19092 36647 41529)	uc002ksk.1		NA																	0					0						c.(643-645)TGG>TAG		RNA (guanine-7-) methyltransferase							128.0	131.0	130.0					18																	13737099		2203	4300	6503	SO:0001587	stop_gained	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13737099G>A	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.644G>A	18.37:g.13737099G>A	ENSP00000372804:p.Trp215*					RNMT_uc002ksl.1_Nonsense_Mutation_p.W215*|RNMT_uc002ksm.1_Nonsense_Mutation_p.W215*|RNMT_uc010dlk.2_Nonsense_Mutation_p.W215*|RNMT_uc010xae.1_RNA	p.W215*	NM_003799	NP_003790	O43148	MCES_HUMAN			4	711	+			215					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Nonsense_Mutation	SNP	ENST00000383314.2	37	c.644G>A	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	G	40	7.935703	0.98568	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000544744;ENST00000262173	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.5653	19.443	0.94831	0.0:0.0:1.0:0.0	.	.	.	.	X	215;215;37;215	.	ENSP00000262173:W215X	W	+	2	0	RNMT	13727099	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.123000	0.94387	2.589000	0.87451	0.585000	0.79938	TGG		0.328	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		13	22	0	0	0	0.003163	0	13	22				
MC5R	4161	broad.mit.edu	37	18	13826520	13826520	+	Silent	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr18:13826520C>A	ENST00000324750.3	+	1	978	c.756C>A	c.(754-756)gcC>gcA	p.A252A	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	252					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGTGCTGGGCCCCGTTCTTCC	0.572																																							uc010xaf.1		NA																	0				ovary(3)|lung(2)|breast(1)	6						c.(754-756)GCC>GCA		melanocortin 5 receptor							230.0	179.0	196.0					18																	13826520		2203	4300	6503	SO:0001819	synonymous_variant	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826520C>A	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.756C>A	18.37:g.13826520C>A							p.A252A	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	756	+			252			Helical; Name=6; (Potential).		B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	c.756C>A	CCDS11868.1																																																																																				0.572	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		26	94	1	0	9.57634e-11	0.00333	1.4902e-10	26	94				
ALPK2	115701	broad.mit.edu	37	18	56274588	56274588	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr18:56274588C>G	ENST00000361673.3	-	3	406	c.193G>C	c.(193-195)Gag>Cag	p.E65Q		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	65	Ig-like 1.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TACTGATTCTCAAAGAATTCA	0.393																																							uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(193-195)GAG>CAG		heart alpha-kinase							106.0	102.0	103.0					18																	56274588		1906	4129	6035	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56274588C>G	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.193G>C	18.37:g.56274588C>G	ENSP00000354991:p.Glu65Gln						p.E65Q	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			3	407	-			65			Ig-like 1.		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.193G>C	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047856	0.36085	.	.	ENSG00000198796	ENST00000361673	T	0.67523	-0.27	5.9	0.878	0.19150	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65502	0.2697	L	0.34521	1.04	0.25401	N	0.988443	D	0.58268	0.982	D	0.69307	0.963	T	0.55528	-0.8127	9	0.09590	T	0.72	-4.7358	7.9758	0.30153	0.0:0.5363:0.2609:0.2028	.	65	Q86TB3	ALPK2_HUMAN	Q	65	ENSP00000354991:E65Q	ENSP00000354991:E65Q	E	-	1	0	ALPK2	54425568	0.922000	0.31269	0.656000	0.29637	0.279000	0.26890	-0.205000	0.09411	-0.398000	0.07679	-1.094000	0.02160	GAG		0.393	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		3	44	0	0	0	0.004672	0	3	44				
ACSBG2	81616	broad.mit.edu	37	19	6187335	6187335	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr19:6187335C>A	ENST00000586696.1	+	12	1858	c.1582C>A	c.(1582-1584)Cct>Act	p.P528T	ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000591403.1_Missense_Mutation_p.P528T|ACSBG2_ENST00000588304.1_Missense_Mutation_p.P478T|ACSBG2_ENST00000252669.5_Missense_Mutation_p.P528T|RFX2_ENST00000587700.1_5'Flank|ACSBG2_ENST00000588485.1_Missense_Mutation_p.P341T			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	528					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCCCCCATTCCTGTTGAGAC	0.478																																							uc002mef.1		NA																	0				ovary(1)	1						c.(1582-1584)CCT>ACT		bubblegum-related acyl-CoA synthetase 2							139.0	124.0	129.0					19																	6187335		2203	4300	6503	SO:0001583	missense	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6187335C>A		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1582C>A	19.37:g.6187335C>A	ENSP00000465589:p.Pro528Thr					ACSBG2_uc002mee.1_Missense_Mutation_p.P341T|ACSBG2_uc002meg.1_Missense_Mutation_p.P528T|ACSBG2_uc002meh.1_Missense_Mutation_p.P528T|ACSBG2_uc002mei.1_Missense_Mutation_p.P478T|ACSBG2_uc010xiz.1_Missense_Mutation_p.P528T	p.P528T	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN			12	1809	+			528					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	c.1582C>A	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103539	0.37145	.	.	ENSG00000130377	ENST00000252669	T	0.10573	2.86	5.35	4.32	0.51571	AMP-dependent synthetase/ligase (1);	0.435422	0.19881	N	0.103962	T	0.36826	0.0981	M	0.90082	3.085	0.58432	D	0.999996	D;D	0.89917	0.969;1.0	P;D	0.79108	0.9;0.992	T	0.35822	-0.9773	10	0.22706	T	0.39	-25.9982	12.7437	0.57268	0.0:0.9203:0.0:0.0797	.	528;528	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	T	528	ENSP00000252669:P528T	ENSP00000252669:P528T	P	+	1	0	ACSBG2	6138335	1.000000	0.71417	0.015000	0.15790	0.004000	0.04260	7.456000	0.80751	1.269000	0.44280	-0.136000	0.14681	CCT		0.478	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		56	25	1	0	5.86059e-21	0.00361	1.08332e-20	56	25				
MAP2K7	5609	broad.mit.edu	37	19	7975916	7975916	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr19:7975916G>T	ENST00000397979.3	+	7	781	c.727G>T	c.(727-729)Gac>Tac	p.D243Y	MAP2K7_ENST00000397983.3_Missense_Mutation_p.D259Y|MAP2K7_ENST00000545011.1_Missense_Mutation_p.D285Y|MAP2K7_ENST00000397981.3_Missense_Mutation_p.D243Y|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CATCCACCGCGACGTCAAGCC	0.632																																							uc002mit.2		NA																	0				large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11						c.(727-729)GAC>TAC		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						39.0	44.0	42.0					19																	7975916		2132	4248	6380	SO:0001583	missense	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7975916G>T	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.727G>T	19.37:g.7975916G>T	ENSP00000381066:p.Asp243Tyr					MAP2K7_uc002miv.2_Missense_Mutation_p.D243Y|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.D243Y|MAP2K7_uc010dvv.2_Missense_Mutation_p.D118Y	p.D243Y	NM_145185	NP_660186	O14733	MP2K7_HUMAN			7	792	+			243			Protein kinase.	Proton acceptor (By similarity).	B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	c.727G>T	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860406	0.91433	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98403	0.9469	H	0.99600	4.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99509	1.0955	10	0.87932	D	0	-9.0758	17.0918	0.86624	0.0:0.0:1.0:0.0	.	243;243	O14733-4;O14733	.;MP2K7_HUMAN	Y	243;259;285;259;243	ENSP00000381068:D243Y;ENSP00000381070:D259Y;ENSP00000443946:D285Y;ENSP00000381066:D243Y	ENSP00000381066:D243Y	D	+	1	0	MAP2K7	7881916	1.000000	0.71417	0.960000	0.40013	0.807000	0.45602	7.652000	0.83633	2.711000	0.92665	0.561000	0.74099	GAC		0.632	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			20	10	1	0	2.4624e-09	0.008871	3.66357e-09	20	10				
MUC16	94025	broad.mit.edu	37	19	9065219	9065219	+	Silent	SNP	G	G	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr19:9065219G>C	ENST00000397910.4	-	3	22430	c.22227C>G	c.(22225-22227)tcC>tcG	p.S7409S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7411	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGTAATGTGGAAGAAACAG	0.522																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(22225-22227)TCC>TCG		mucin 16							83.0	82.0	82.0					19																	9065219		2011	4190	6201	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065219G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22227C>G	19.37:g.9065219G>C							p.S7409S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	22431	-			7411			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.22227C>G	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	31	0	0	0	0.000248	0	3	31				
MUC16	94025	broad.mit.edu	37	19	9087031	9087031	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr19:9087031G>T	ENST00000397910.4	-	1	4987	c.4784C>A	c.(4783-4785)aCa>aAa	p.T1595K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1595	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCCCTTGTGTCCCGAGCTC	0.483																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(4783-4785)ACA>AAA		mucin 16							291.0	276.0	281.0					19																	9087031		2001	4168	6169	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087031G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4784C>A	19.37:g.9087031G>T	ENSP00000381008:p.Thr1595Lys						p.T1595K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	4988	-			1595			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.4784C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.159	-0.392593	0.04899	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	0.522	-1.04	0.10068	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	.	.	.	D	0.54772	0.968	P	0.61874	0.895	T	0.44467	-0.9326	7	0.87932	D	0	.	.	.	.	.	1595	B5ME49	.	K	1595	ENSP00000381008:T1595K	ENSP00000381008:T1595K	T	-	2	0	MUC16	8948031	0.000000	0.05858	0.006000	0.13384	0.238000	0.25445	-0.570000	0.05895	-0.473000	0.06871	0.313000	0.20887	ACA		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		67	39	1	0	1.08241e-25	0.00361	2.10276e-25	67	39				
EMR2	30817	broad.mit.edu	37	19	14865885	14865885	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr19:14865885C>A	ENST00000315576.3	-	14	1922	c.1471G>T	c.(1471-1473)Gga>Tga	p.G491*	EMR2_ENST00000392967.2_Nonsense_Mutation_p.G480*|EMR2_ENST00000594294.1_Nonsense_Mutation_p.G442*|EMR2_ENST00000353005.1_Nonsense_Mutation_p.G349*|EMR2_ENST00000392964.3_Missense_Mutation_p.W155L|EMR2_ENST00000346057.1_Nonsense_Mutation_p.G442*|EMR2_ENST00000596991.2_Nonsense_Mutation_p.G480*|EMR2_ENST00000595839.1_Nonsense_Mutation_p.G349*|EMR2_ENST00000601345.1_Nonsense_Mutation_p.G480*|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000594076.1_Nonsense_Mutation_p.G398*|EMR2_ENST00000353876.1_Nonsense_Mutation_p.G398*	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	491	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TGACCACATCCATTCTGGCCA	0.592																																							uc002mzp.1		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(1471-1473)GGA>TGA		egf-like module containing, mucin-like, hormone							162.0	129.0	140.0					19																	14865885		2203	4300	6503	SO:0001587	stop_gained	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14865885C>A	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1471G>T	19.37:g.14865885C>A	ENSP00000319883:p.Gly491*					EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Nonsense_Mutation_p.G480*|EMR2_uc002mzq.1_Nonsense_Mutation_p.G431*|EMR2_uc002mzr.1_Nonsense_Mutation_p.G442*|EMR2_uc002mzs.1_Nonsense_Mutation_p.G349*|EMR2_uc002mzt.1_Nonsense_Mutation_p.G387*|EMR2_uc002mzu.1_Nonsense_Mutation_p.G398*|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_Intron	p.G491*	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN			14	1927	-			491			Extracellular (Potential).|GPS.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Nonsense_Mutation	SNP	ENST00000315576.3	37	c.1471G>T	CCDS32935.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.307577|7.307577	0.98200|0.98200	.|.	.|.	ENSG00000127507|ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005|ENST00000392964	.|T	.|0.39406	.|1.08	4.05|4.05	1.87|1.87	0.25490|0.25490	.|.	.|.	.|.	.|.	.|.	.|T	.|0.40791	.|0.1131	.|.	.|.	.|.	0.19575|0.19575	N|N	0.999962|0.999962	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.34775	.|-0.9815	.|6	0.38643|0.87932	T|D	0.18|0	.|.	6.7488|6.7488	0.23475|0.23475	0.0:0.7668:0.0:0.2332|0.0:0.7668:0.0:0.2332	.|.	.|.	.|.	.|.	X|L	491;480;442;398;349|155	.|ENSP00000376691:W155L	ENSP00000319883:G491X|ENSP00000376691:W155L	G|W	-|-	1|2	0|0	EMR2|EMR2	14726885|14726885	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.076000|0.076000	0.17211|0.17211	-0.493000|-0.493000	0.06459|0.06459	0.419000|0.419000	0.25927|0.25927	0.508000|0.508000	0.49915|0.49915	GGA|TGG		0.592	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			36	16	1	0	2.05212e-20	0.005524	3.74788e-20	36	16				
ZNF85	7639	broad.mit.edu	37	19	21131729	21131729	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr19:21131729T>C	ENST00000328178.8	+	4	522	c.409T>C	c.(409-411)Tgt>Cgt	p.C137R	ZNF85_ENST00000601023.1_Missense_Mutation_p.C78R|ZNF85_ENST00000345030.6_Missense_Mutation_p.C104R	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	137					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						ACTTAACCAATGTCTCACAGC	0.323																																							uc002npg.3		NA																	0				central_nervous_system(1)	1						c.(409-411)TGT>CGT		zinc finger protein 85							66.0	70.0	69.0					19																	21131729		2203	4300	6503	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21131729T>C	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.409T>C	19.37:g.21131729T>C	ENSP00000329793:p.Cys137Arg					ZNF85_uc010ecn.2_Missense_Mutation_p.C72R|ZNF85_uc010eco.2_Missense_Mutation_p.C85R|ZNF85_uc002npi.2_Missense_Mutation_p.C78R	p.C137R	NM_003429	NP_003420	Q03923	ZNF85_HUMAN			4	536	+			137					B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.409T>C	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	3.569	-0.087932	0.07097	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.05580	3.55;3.42	1.23	0.112	0.14623	.	.	.	.	.	T	0.20659	0.0497	M	0.92122	3.275	0.09310	N	1	D;D;B	0.76494	0.999;0.98;0.043	D;D;B	0.76575	0.988;0.962;0.03	T	0.40627	-0.9553	9	0.10636	T	0.68	.	1.3546	0.02179	0.3363:0.256:0.0:0.4077	.	104;78;137	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	R	137;104;12	ENSP00000329793:C137R;ENSP00000342340:C104R	ENSP00000329793:C137R	C	+	1	0	ZNF85	20923569	0.000000	0.05858	0.020000	0.16555	0.021000	0.10359	-0.035000	0.12205	0.526000	0.28541	0.374000	0.22700	TGT		0.323	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		11	46	0	0	0	0.000978	0	11	46				
FCGBP	8857	broad.mit.edu	37	19	40367787	40367787	+	Silent	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr19:40367787G>A	ENST00000221347.6	-	29	13180	c.13173C>T	c.(13171-13173)tgC>tgT	p.C4391C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4391	TIL 10.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AACCCGCGTCGCACTGGCAGC	0.647																																							uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(13171-13173)TGC>TGT		Fc fragment of IgG binding protein precursor							11.0	16.0	14.0					19																	40367787		1999	3852	5851	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40367787G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13173C>T	19.37:g.40367787G>A							p.C4391C	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		29	13181	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4391			TIL 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.13173C>T	CCDS12546.1																																																																																				0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		19	56	0	0	0	0.003954	0	19	56				
TRPM4	54795	broad.mit.edu	37	19	49675355	49675355	+	Silent	SNP	C	C	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr19:49675355C>G	ENST00000252826.5	+	9	1266	c.1140C>G	c.(1138-1140)gcC>gcG	p.A380A	TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Silent_p.A380A	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	380					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TTTTGAAGGCCCTTGTGAAGG	0.502																																							uc002pmw.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1138-1140)GCC>GCG		transient receptor potential cation channel,							106.0	106.0	106.0					19																	49675355		2203	4300	6503	SO:0001819	synonymous_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49675355C>G	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1140C>G	19.37:g.49675355C>G						TRPM4_uc010emu.2_Silent_p.A380A|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Silent_p.A206A|TRPM4_uc010emv.2_Silent_p.A265A|TRPM4_uc010yal.1_Intron	p.A380A	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	9	1212	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	380			Cytoplasmic (Potential).		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	ENST00000252826.5	37	c.1140C>G	CCDS33073.1																																																																																				0.502	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		28	43	0	0	0	0.007291	0	28	43				
ZNF534	147658	broad.mit.edu	37	19	52942343	52942343	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr19:52942343C>G	ENST00000332323.6	+	4	1730	c.1669C>G	c.(1669-1671)Cat>Gat	p.H557D	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.H544D	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	557					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)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TAGGAATGTTCATACTGGAGA	0.438																																							uc002pzk.2		NA																	0					0						c.(1669-1671)CAT>GAT		zinc finger protein 534 isoform 2							87.0	83.0	84.0					19																	52942343		692	1591	2283	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52942343C>G	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1669C>G	19.37:g.52942343C>G	ENSP00000327538:p.His557Asp					ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.H544D	p.H557D	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			4	1730	+			557			C2H2-type 13.		Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.1669C>G	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149811	0.37923	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.67698	-0.28;-0.28	1.7	1.7	0.24286	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85080	0.5615	H	0.95917	3.74	0.80722	D	1	D;D	0.71674	0.998;0.989	D;D	0.77004	0.969;0.989	D	0.87100	0.2178	9	0.87932	D	0	.	10.4	0.44225	0.0:1.0:0.0:0.0	.	544;557	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	D	557;544;556	ENSP00000327538:H557D;ENSP00000391358:H544D	ENSP00000327538:H557D	H	+	1	0	ZNF534	57634155	0.998000	0.40836	0.298000	0.25002	0.008000	0.06430	4.399000	0.59703	0.927000	0.37143	0.391000	0.25812	CAT		0.438	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		5	1	0	0	0	0.001168	0	5	1				
ZNF816	125893	broad.mit.edu	37	19	53454526	53454526	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr19:53454526G>A	ENST00000357666.4	-	5	802	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.H168Y	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	168					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.H168N(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TGAAACATGTGGAGTTCAGGC	0.423																																							uc002qal.1		NA																	1	Substitution - Missense(1)		kidney(1)		0						c.(502-504)CAC>TAC		zinc finger protein 816A							148.0	159.0	155.0					19																	53454526		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454526G>A	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.502C>T	19.37:g.53454526G>A	ENSP00000350295:p.His168Tyr					ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.H152Y	p.H168Y	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN		GBM - Glioblastoma multiforme(134;0.0313)	5	803	-			168					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.502C>T	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	N	12.93	2.086221	0.36855	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.05513	3.43;3.43	1.77	1.77	0.24775	.	.	.	.	.	T	0.08935	0.0221	L	0.58810	1.83	0.18873	N	0.999987	P	0.36974	0.576	B	0.40410	0.328	T	0.21008	-1.0258	9	0.52906	T	0.07	.	6.8841	0.24189	0.0:0.0:1.0:0.0	.	168	Q0VGE8	ZN816_HUMAN	Y	168	ENSP00000350295:H168Y;ENSP00000403266:H168Y	ENSP00000350295:H168Y	H	-	1	0	ZNF816	58146338	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.069000	0.14552	0.955000	0.37878	0.185000	0.17295	CAC		0.423	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		30	110	0	0	0	0.008361	0	30	110				
KIR3DL1	3811	broad.mit.edu	37	19	55301604	55301605	+	Intron	DNP	TC	TC	CA	rs376055625		TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr19:55301604_55301605TC>CA	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGGGGGAGGCTCATGAACTTAG	0.599																																							uc010yfi.1		NA																	0					0						c.(781-786)GCTCAT>GCCAAT		killer-cell Ig-like receptor																																				SO:0001627	intron_variant	768329							g.chr19:55301604_55301605TC>CA	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	Exception_encountered	19.37:g.55301604_55301605delinsCA						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Intron	p.H262N	NM_001015070	NP_001015070				GBM - Glioblastoma multiforme(193;0.0192)	5	784_785	+								O43473|Q14946|Q16541	Missense_Mutation	DNP	ENST00000538269.1	37	c.783_784TC>CA																																																																																					0.599	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		23	61	0	0	0	0.004672	0	23	61				
STRN	6801	broad.mit.edu	37	2	37132762	37132762	+	Splice_Site	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr2:37132762C>A	ENST00000263918.4	-	4	421		c.e4-1		STRN_ENST00000379213.2_Splice_Site	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein						dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTACCTTCATCTAGAAAACAT	0.333																																							uc002rpn.2		NA																	0				skin(1)	1						c.e4-1		striatin, calmodulin binding protein							98.0	91.0	94.0					2																	37132762		2203	4300	6503	SO:0001630	splice_region_variant	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37132762C>A	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.413-1G>T	2.37:g.37132762C>A						STRN_uc010ezx.2_Splice_Site_p.D138_splice	p.D138_splice	NM_003162	NP_003153	O43815	STRN_HUMAN			4	422	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)						Q3KP65|Q53TQ8|Q9NP38	Splice_Site	SNP	ENST00000263918.4	37	c.413_splice	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428000	0.83667	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4458	0.90683	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STRN	36986266	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.526000	0.73799	2.348000	0.79779	0.655000	0.94253	.		0.333	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1		Intron	11	48	1	0	2.80697e-09	0.000978	4.15596e-09	11	48				
SIX2	10736	broad.mit.edu	37	2	45233362	45233362	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr2:45233362G>T	ENST00000303077.6	-	2	1142	c.823C>A	c.(823-825)Cag>Aag	p.Q275K		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	275					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATGGAGTCCTGCAGGCCATGG	0.642																																							uc002ruo.2		NA																	0				pancreas(1)	1						c.(823-825)CAG>AAG		SIX homeobox 2							147.0	136.0	140.0					2																	45233362		2203	4300	6503	SO:0001583	missense	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45233362G>T	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.823C>A	2.37:g.45233362G>T	ENSP00000304502:p.Gln275Lys					SIX2_uc002rup.2_Missense_Mutation_p.Q277K	p.Q275K	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN			2	1116	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	275					Q9BXH7	Missense_Mutation	SNP	ENST00000303077.6	37	c.823C>A	CCDS1822.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892874	0.72524	.	.	ENSG00000170577	ENST00000303077	D	0.88354	-2.37	4.85	4.85	0.62838	.	0.061993	0.64402	D	0.000003	D	0.82388	0.5026	L	0.29908	0.895	0.49687	D	0.999816	B;B	0.27791	0.189;0.084	B;B	0.19148	0.024;0.024	T	0.78788	-0.2067	10	0.20519	T	0.43	-24.9786	17.9609	0.89085	0.0:0.0:1.0:0.0	.	275;275	Q8TBA2;Q9NPC8	.;SIX2_HUMAN	K	275	ENSP00000304502:Q275K	ENSP00000304502:Q275K	Q	-	1	0	SIX2	45086866	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.394000	0.97261	2.224000	0.72417	0.462000	0.41574	CAG		0.642	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			9	80	1	0	2.52707e-12	0.006214	4.01435e-12	9	80				
WDPCP	51057	broad.mit.edu	37	2	63631787	63631787	+	Silent	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr2:63631787C>A	ENST00000272321.7	-	10	1358	c.831G>T	c.(829-831)ctG>ctT	p.L277L	WDPCP_ENST00000398544.3_Silent_p.L118L|WDPCP_ENST00000409199.1_Silent_p.L85L|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409120.1_Silent_p.L85L|WDPCP_ENST00000409562.3_Silent_p.L277L	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	277					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						GGACAGAACTCAGAACCTGTT	0.408																																							uc002sch.2		NA																	0					0						c.(829-831)CTG>CTT		hypothetical protein LOC51057 isoform 2							81.0	72.0	75.0					2																	63631787		1898	4111	6009	SO:0001819	synonymous_variant	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63631787C>A		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.831G>T	2.37:g.63631787C>A						C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Silent_p.L118L|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Silent_p.L85L|C2orf86_uc002sci.1_Silent_p.L253L|C2orf86_uc010fcr.1_Silent_p.L167L	p.L277L	NM_015910	NP_056994	O95876	FRITZ_HUMAN			10	1277	-			277					Q53RW4|Q7Z2Z3	Silent	SNP	ENST00000272321.7	37	c.831G>T	CCDS42688.1																																																																																				0.408	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		19	39	1	0	3.99206e-14	0.007413	6.54612e-14	19	39				
DYSF	8291	broad.mit.edu	37	2	71783149	71783149	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr2:71783149G>T	ENST00000258104.3	+	22	2387	c.2110G>T	c.(2110-2112)Gac>Tac	p.D704Y	DYSF_ENST00000409651.1_Missense_Mutation_p.D736Y|DYSF_ENST00000394120.2_Missense_Mutation_p.D705Y|DYSF_ENST00000413539.2_Missense_Mutation_p.D735Y|DYSF_ENST00000409366.1_Missense_Mutation_p.D705Y|DYSF_ENST00000409744.1_Missense_Mutation_p.D691Y|DYSF_ENST00000409582.3_Missense_Mutation_p.D721Y|DYSF_ENST00000409762.1_Missense_Mutation_p.D721Y|DYSF_ENST00000429174.2_Missense_Mutation_p.D704Y|DYSF_ENST00000410020.3_Missense_Mutation_p.D722Y|DYSF_ENST00000410041.1_Missense_Mutation_p.D722Y	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	704					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTCCACGGAGGACGTGGACTC	0.662																																							uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(2110-2112)GAC>TAC		dysferlin isoform 8							33.0	27.0	29.0					2																	71783149		2197	4290	6487	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71783149G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2110G>T	2.37:g.71783149G>T	ENSP00000258104:p.Asp704Tyr					DYSF_uc010feg.2_Missense_Mutation_p.D735Y|DYSF_uc010feh.2_Missense_Mutation_p.D690Y|DYSF_uc002sig.3_Missense_Mutation_p.D690Y|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.D704Y|DYSF_uc010fef.2_Missense_Mutation_p.D721Y|DYSF_uc010fei.2_Missense_Mutation_p.D721Y|DYSF_uc010fek.2_Missense_Mutation_p.D722Y|DYSF_uc010fej.2_Missense_Mutation_p.D691Y|DYSF_uc010fel.2_Missense_Mutation_p.D691Y|DYSF_uc010feo.2_Missense_Mutation_p.D736Y|DYSF_uc010fem.2_Missense_Mutation_p.D705Y|DYSF_uc010fen.2_Missense_Mutation_p.D722Y|DYSF_uc002sif.2_Missense_Mutation_p.D705Y	p.D704Y	NM_003494	NP_003485	O75923	DYSF_HUMAN			22	2486	+			704			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.2110G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750214	0.49257	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.08	4.08	0.47627	Ferlin A-domain (1);	0.068622	0.64402	D	0.000006	D	0.84266	0.5434	L	0.60455	1.87	0.52099	D	0.999943	D;D;D;D;B;P;B;B;D;P;D;D;D;D	0.67145	0.991;0.991;0.991;0.991;0.391;0.794;0.391;0.023;0.996;0.889;0.984;0.991;0.991;0.993	P;P;P;P;B;P;B;B;D;P;D;P;P;D	0.66602	0.891;0.891;0.891;0.891;0.397;0.521;0.397;0.07;0.945;0.521;0.926;0.891;0.891;0.934	D	0.86223	0.1632	10	0.72032	D	0.01	-14.937	14.1366	0.65291	0.0:0.0:1.0:0.0	.	736;722;705;691;722;691;721;690;735;721;704;690;705;704	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	Y	735;721;721;704;704;736;705;691;705;722;722	ENSP00000407046:D735Y;ENSP00000387137:D721Y;ENSP00000386547:D721Y;ENSP00000398305:D704Y;ENSP00000258104:D704Y;ENSP00000386683:D736Y;ENSP00000377678:D705Y;ENSP00000386285:D691Y;ENSP00000386512:D705Y;ENSP00000386881:D722Y;ENSP00000386617:D722Y	ENSP00000258104:D704Y	D	+	1	0	DYSF	71636657	1.000000	0.71417	0.746000	0.31095	0.232000	0.25224	8.528000	0.90598	2.002000	0.58637	0.561000	0.74099	GAC		0.662	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		3	6	1	0	0.004672	0.004672	0.00572273	3	6				
GGCX	2677	broad.mit.edu	37	2	85777724	85777724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr2:85777724G>A	ENST00000233838.4	-	14	2118	c.2038C>T	c.(2038-2040)Cga>Tga	p.R680*	GGCX_ENST00000430215.3_Nonsense_Mutation_p.R623*|GGCX_ENST00000473665.1_5'Flank	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	680					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	CGGAAGAATCGCTCATGGAAA	0.483																																							uc002sps.2		NA																	0				ovary(1)	1						c.(2038-2040)CGA>TGA		gamma-glutamyl carboxylase isoform 1	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						79.0	84.0	82.0					2																	85777724		2203	4300	6503	SO:0001587	stop_gained	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85777724G>A		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.2038C>T	2.37:g.85777724G>A	ENSP00000233838:p.Arg680*					GGCX_uc010yss.1_Nonsense_Mutation_p.R496*|GGCX_uc010yst.1_Nonsense_Mutation_p.R623*	p.R680*	NM_000821	NP_000812	P38435	VKGC_HUMAN			14	2144	-			680			Lumenal (Potential).		B4DMC5|E9PEE1|Q14415|Q6GU45	Nonsense_Mutation	SNP	ENST00000233838.4	37	c.2038C>T	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760795	0.89932	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	.	.	.	5.78	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7553	12.8365	0.57775	0.0:0.0:0.767:0.233	.	.	.	.	X	680;623	.	ENSP00000233838:R680X	R	-	1	2	GGCX	85631235	1.000000	0.71417	0.993000	0.49108	0.216000	0.24613	2.109000	0.41863	2.730000	0.93505	0.655000	0.94253	CGA		0.483	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		47	62	0	0	0	0.003214	0	47	62				
GLI2	2736	broad.mit.edu	37	2	121726325	121726325	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr2:121726325C>A	ENST00000452319.1	+	6	739	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.L227M					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GACGCCCCGCCTGAGCCGCAA	0.642																																							uc010flp.2		NA																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(679-681)CTG>ATG		GLI-Kruppel family member GLI2							68.0	67.0	67.0					2																	121726325		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121726325C>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.679C>A	2.37:g.121726325C>A	ENSP00000390436:p.Leu227Met					GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.P97H|GLI2_uc010flo.1_Missense_Mutation_p.L102M|GLI2_uc002tmw.1_Missense_Mutation_p.L227M	p.L227M	NM_005270	NP_005261	P10070	GLI2_HUMAN			5	709	+	Renal(3;0.0496)	Prostate(154;0.0623)	227						Missense_Mutation	SNP	ENST00000452319.1	37	c.679C>A	CCDS33283.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.46|17.46	3.395270|3.395270	0.62066|0.62066	.|.	.|.	ENSG00000074047|ENSG00000074047	ENST00000452319;ENST00000361492|ENST00000440937;ENST00000360874	T;T|.	0.68181|.	-0.31;-0.31|.	4.91|4.91	2.89|2.89	0.33648|0.33648	.|.	0.267924|.	0.31784|.	N|.	0.007064|.	T|T	0.48429|0.48429	0.1499|0.1499	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	D;D|P	0.76494|0.48230	0.999;0.981|0.907	D;P|B	0.87578|0.41202	0.998;0.708|0.35	T|T	0.54207|0.54207	-0.8328|-0.8328	10|8	0.34782|0.87932	T|D	0.22|0	.|.	5.2517|5.2517	0.15524|0.15524	0.0:0.6217:0.2229:0.1554|0.0:0.6217:0.2229:0.1554	.|.	227;227|97	P10070;Q0VGA0|F5H4D9	GLI2_HUMAN;.|.	M|H	227|97;89	ENSP00000390436:L227M;ENSP00000354586:L227M|.	ENSP00000354586:L227M|ENSP00000441454:P89H	L|P	+|+	1|2	2|0	GLI2|GLI2	121442795|121442795	0.981000|0.981000	0.34729|0.34729	0.999000|0.999000	0.59377|0.59377	0.992000|0.992000	0.81027|0.81027	1.412000|1.412000	0.34714|0.34714	1.258000|1.258000	0.44101|0.44101	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.642	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		22	79	1	0	7.33532e-06	0.003954	9.76975e-06	22	79				
POTEF	728378	broad.mit.edu	37	2	130877604	130877604	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr2:130877604C>A	ENST00000409914.2	-	3	884	c.485G>T	c.(484-486)aGg>aTg	p.R162M	POTEF_ENST00000357462.5_Missense_Mutation_p.R162M|POTEF_ENST00000360967.5_Missense_Mutation_p.R162M|POTEF_ENST00000361163.4_Missense_Mutation_p.R162M	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	162					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTCAGTGTCCCTGAGCATGAC	0.587																																							uc010fmh.2		NA																	0				skin(3)|ovary(2)	5						c.(484-486)AGG>ATG		prostate, ovary, testis expressed protein on							27.0	33.0	31.0					2																	130877604		1733	3666	5399	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877604C>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.485G>T	2.37:g.130877604C>A	ENSP00000386786:p.Arg162Met						p.R162M	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			3	885	-			162					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.485G>T	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	12.06	1.825891	0.32237	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.78246	-1.16;-1.16;1.67;1.68	1.33	1.33	0.21861	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.76357	0.3976	L	0.43757	1.38	0.09310	N	1	D	0.54601	0.967	P	0.54544	0.755	T	0.64390	-0.6419	9	0.87932	D	0	.	6.0885	0.19980	0.0:1.0:0.0:0.0	.	162	A5A3E0	POTEF_HUMAN	M	162	ENSP00000350052:R162M;ENSP00000386786:R162M;ENSP00000354232:R162M;ENSP00000355012:R162M	ENSP00000350052:R162M	R	-	2	0	POTEF	130594074	0.001000	0.12720	0.009000	0.14445	0.214000	0.24535	0.710000	0.25748	1.041000	0.40125	0.162000	0.16502	AGG		0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		30	21	1	0	6.84511e-11	0.003271	1.07065e-10	30	21				
LRP1B	53353	broad.mit.edu	37	2	141108413	141108413	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr2:141108413T>C	ENST00000389484.3	-	77	12816	c.11845A>G	c.(11845-11847)Aaa>Gaa	p.K3949E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3949					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGATCCTTTTGTAGAAAATT	0.348										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(11845-11847)AAA>GAA		low density lipoprotein-related protein 1B							75.0	77.0	76.0					2																	141108413		2202	4299	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141108413T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11845A>G	2.37:g.141108413T>C	ENSP00000374135:p.Lys3949Glu	TSP Lung(27;0.18)					p.K3949E	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	77	12817	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3949			Extracellular (Potential).|LDL-receptor class B 33.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11845A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.953373	0.53293	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91068	-2.78	5.48	5.48	0.80851	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.187581	0.45867	D	0.000334	D	0.84352	0.5453	L	0.31065	0.9	0.42364	D	0.992428	B	0.27791	0.189	B	0.19148	0.024	T	0.81369	-0.0964	10	0.24483	T	0.36	.	15.8549	0.78968	0.0:0.0:0.0:1.0	.	3949	Q9NZR2	LRP1B_HUMAN	E	3949;3887	ENSP00000374135:K3949E	ENSP00000374135:K3949E	K	-	1	0	LRP1B	140824883	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.543000	0.82106	2.206000	0.71126	0.533000	0.62120	AAA		0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	19	0	0	0	0.006214	0	9	19				
LRP1B	53353	broad.mit.edu	37	2	141108467	141108467	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr2:141108467G>C	ENST00000389484.3	-	77	12762	c.11791C>G	c.(11791-11793)Caa>Gaa	p.Q3931E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3931					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATATCTCTTTGATAATATACA	0.348										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(11791-11793)CAA>GAA		low density lipoprotein-related protein 1B							97.0	101.0	100.0					2																	141108467		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141108467G>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11791C>G	2.37:g.141108467G>C	ENSP00000374135:p.Gln3931Glu	TSP Lung(27;0.18)					p.Q3931E	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	77	12763	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3931			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11791C>G	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.57|13.57	2.275689|2.275689	0.40294|0.40294	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.90732	.|-2.72	5.21|5.21	5.21|5.21	0.72293|0.72293	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|0.208574	.|0.41712	.|D	.|0.000835	T|T	0.81527|0.81527	0.4841|0.4841	N|N	0.14661|0.14661	0.345|0.345	0.41431|0.41431	D|D	0.987864|0.987864	.|B	.|0.29037	.|0.231	.|B	.|0.27608	.|0.081	T|T	0.78303|0.78303	-0.2256|-0.2256	5|10	.|0.02654	.|T	.|1	.|.	19.1034|19.1034	0.93283|0.93283	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3931	.|Q9NZR2	.|LRP1B_HUMAN	M|E	162|3931;3869	.|ENSP00000374135:Q3931E	.|ENSP00000374135:Q3931E	I|Q	-|-	3|1	3|0	LRP1B|LRP1B	140824937|140824937	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.453000|7.453000	0.80700|0.80700	2.588000|2.588000	0.87417|0.87417	0.655000|0.655000	0.94253|0.94253	ATC|CAA		0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		10	37	0	0	0	0.006214	0	10	37				
RIF1	55183	broad.mit.edu	37	2	152267818	152267818	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr2:152267818A>T	ENST00000243326.5	+	2	632	c.149A>T	c.(148-150)gAg>gTg	p.E50V	RIF1_ENST00000430328.2_Missense_Mutation_p.E50V|RIF1_ENST00000453091.2_Missense_Mutation_p.E50V|RIF1_ENST00000428287.2_Missense_Mutation_p.E50V|RIF1_ENST00000444746.2_Missense_Mutation_p.E50V|RIF1_ENST00000433166.2_Missense_Mutation_p.E50V			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ACAGAAATTGAGAAAAAACTT	0.299																																							uc002txm.2		NA																	0				ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(148-150)GAG>GTG		RAP1 interacting factor 1							87.0	96.0	93.0					2																	152267818		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152267818A>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.149A>T	2.37:g.152267818A>T	ENSP00000243326:p.Glu50Val					RIF1_uc002txl.2_Missense_Mutation_p.E50V|RIF1_uc010fnv.1_Missense_Mutation_p.E14V|RIF1_uc002txn.2_Missense_Mutation_p.E50V|RIF1_uc002txo.2_Missense_Mutation_p.E50V|RIF1_uc010zby.1_RNA	p.E50V	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	3	279	+			50					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.149A>T	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.112|8.112	0.778969|0.778969	0.16120|0.16120	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000433166;ENST00000420714;ENST00000243326;ENST00000430328|ENST00000414861	T;T;T;T;T;T|.	0.53423|.	2.79;2.79;2.79;0.62;2.79;2.79|.	4.93|4.93	3.78|3.78	0.43462|0.43462	Armadillo-type fold (1);|.	0.319926|.	0.33959|.	N|.	0.004400|.	T|.	0.49355|.	0.1552|.	L|L	0.50919|0.50919	1.6|1.6	0.33984|0.33984	D|D	0.648327|0.648327	B;D|.	0.53462|.	0.366;0.96|.	B;P|.	0.51016|.	0.085;0.656|.	T|.	0.59392|.	-0.7463|.	10|.	0.26408|.	T|.	0.33|.	-10.9737|-10.9737	4.7962|4.7962	0.13274|0.13274	0.7745:0.0:0.2255:0.0|0.7745:0.0:0.2255:0.0	.|.	50;50|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	V|C	50|41	ENSP00000390181:E50V;ENSP00000414615:E50V;ENSP00000415691:E50V;ENSP00000400034:E50V;ENSP00000243326:E50V;ENSP00000416123:E50V|.	ENSP00000243326:E50V|.	E|X	+|+	2|3	0|0	RIF1|RIF1	151976064|151976064	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.048000|0.048000	0.14542|0.14542	2.556000|2.556000	0.45862|0.45862	1.863000|1.863000	0.54032|0.54032	0.460000|0.460000	0.39030|0.39030	GAG|TGA		0.299	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			15	25	0	0	0	0.004007	0	15	25				
GRB14	2888	broad.mit.edu	37	2	165353575	165353575	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr2:165353575T>C	ENST00000263915.3	-	12	1863	c.1325A>G	c.(1324-1326)cAc>cGc	p.H442R	GRB14_ENST00000543549.1_Missense_Mutation_p.H355R|GRB14_ENST00000497306.1_5'Flank	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	442	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AGAAATTTTGTGGTGAAACCA	0.388																																							uc002ucl.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						c.(1324-1326)CAC>CGC		growth factor receptor-bound protein 14							79.0	76.0	77.0					2																	165353575		2203	4300	6503	SO:0001583	missense	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165353575T>C		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1325A>G	2.37:g.165353575T>C	ENSP00000263915:p.His442Arg					GRB14_uc010zcv.1_Missense_Mutation_p.H355R|GRB14_uc002ucm.2_RNA	p.H442R	NM_004490	NP_004481	Q14449	GRB14_HUMAN			12	1866	-			442			SH2.		B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	c.1325A>G	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	T	18.18	3.566672	0.65651	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;D	0.92249	1.02;1.02;-3.0	6.05	6.05	0.98169	SH2 motif (5);	0.131786	0.64402	D	0.000001	D	0.85199	0.5642	N	0.11201	0.11	0.47214	D	0.999359	B;B	0.27068	0.029;0.167	B;B	0.25140	0.02;0.058	T	0.83277	-0.0040	10	0.66056	D	0.02	-13.9372	16.5932	0.84781	0.0:0.0:0.0:1.0	.	355;442	B7Z7F9;Q14449	.;GRB14_HUMAN	R	442;355;397	ENSP00000263915:H442R;ENSP00000443699:H355R;ENSP00000416786:H397R	ENSP00000263915:H442R	H	-	2	0	GRB14	165061821	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.902000	0.69869	2.320000	0.78422	0.528000	0.53228	CAC		0.388	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			6	29	0	0	0	0.004482	0	6	29				
TTN	7273	broad.mit.edu	37	2	179425863	179425863	+	Silent	SNP	A	A	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr2:179425863A>G	ENST00000591111.1	-	276	80297	c.80073T>C	c.(80071-80073)gcT>gcC	p.A26691A	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.A19267A|TTN_ENST00000342175.6_Silent_p.A19459A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.A28332A|TTN_ENST00000342992.6_Silent_p.A25764A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.A19392A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26691	Fibronectin type-III 94. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAGTCAGCAGCATTCCTTG	0.403																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(77290-77292)GCT>GCC		titin isoform N2-A							97.0	94.0	95.0					2																	179425863		1914	4117	6031	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425863A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80073T>C	2.37:g.179425863A>G						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A19459A|TTN_uc010zfi.1_Silent_p.A19392A|TTN_uc010zfj.1_Silent_p.A19267A	p.A25764A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	77516	-			26691					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.77292T>C																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	64	0	0	0	0.001882	0	22	64				
TTN	7273	broad.mit.edu	37	2	179542483	179542483	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr2:179542483G>A	ENST00000591111.1	-	144	33429	c.33205C>T	c.(33205-33207)Cct>Tct	p.P11069S	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P11386S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10142S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10204	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCTTCAGGTAGAACTTCC	0.428																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(30424-30426)CCT>TCT		titin isoform N2-A							123.0	123.0	123.0					2																	179542483		1856	4084	5940	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542483G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33205C>T	2.37:g.179542483G>A	ENSP00000465570:p.Pro11069Ser					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6803S|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	p.P10142S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		143	30648	-			11069					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.30424C>T		.	.	.	.	.	.	.	.	.	.	G	7.477	0.647971	0.14516	.	.	ENSG00000155657	ENST00000342992	D	0.85773	-2.03	5.36	4.47	0.54385	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.77785	0.4182	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.74074	-0.3782	8	0.87932	D	0	.	5.6441	0.17580	0.0769:0.1379:0.6429:0.1423	.	11069	Q8WZ42	TITIN_HUMAN	S	10142	ENSP00000343764:P10142S	ENSP00000343764:P10142S	P	-	1	0	TTN	179250728	0.024000	0.19004	0.865000	0.33974	0.323000	0.28346	0.608000	0.24223	1.361000	0.45981	0.655000	0.94253	CCT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	81	0	0	0	0.00278	0	22	81				
PTPRN	5798	broad.mit.edu	37	2	220161970	220161970	+	Silent	SNP	C	C	A	rs145338513	byFrequency	TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr2:220161970C>A	ENST00000295718.2	-	14	2313	c.2073G>T	c.(2071-2073)acG>acT	p.T691T	PTPRN_ENST00000409251.3_Silent_p.T662T|PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Silent_p.T601T	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	691					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TCATGTGTCCCGTGGAGATGT	0.662																																							uc002vkz.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(2071-2073)ACG>ACT		protein tyrosine phosphatase, receptor type, N							62.0	50.0	54.0					2																	220161970		2203	4300	6503	SO:0001819	synonymous_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220161970C>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2073G>T	2.37:g.220161970C>A						PTPRN_uc010zlc.1_Silent_p.T601T|PTPRN_uc002vla.2_Silent_p.T662T	p.T691T	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	14	2162	-		Renal(207;0.0474)	691			Cytoplasmic (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	c.2073G>T	CCDS2440.1																																																																																				0.662	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			22	27	1	0	1.28384e-07	0.001882	1.77181e-07	22	27				
USP40	55230	broad.mit.edu	37	2	234436148	234436148	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr2:234436148C>A	ENST00000427112.2	-	12	1662	c.1627G>T	c.(1627-1629)Gct>Tct	p.A543S	USP40_ENST00000251722.6_Missense_Mutation_p.A543S|USP40_ENST00000450966.1_Missense_Mutation_p.A555S			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	543					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GGGTGCAGAGCCCCATTGAAG	0.403																																							uc010zmr.1		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(1663-1665)GCT>TCT		ubiquitin thioesterase 40							72.0	68.0	69.0					2																	234436148		1846	4096	5942	SO:0001583	missense	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234436148C>A	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1627G>T	2.37:g.234436148C>A	ENSP00000387898:p.Ala543Ser					USP40_uc010zmt.1_Missense_Mutation_p.A199S	p.A555S	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	12	1663	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	543					Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	c.1663G>T	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	30	5.049774	0.93740	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.07021	3.23;3.24;3.24	5.26	5.26	0.73747	.	1.007950	0.07948	N	0.980344	T	0.35508	0.0934	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.01587	-1.1318	10	0.66056	D	0.02	.	18.8591	0.92265	0.0:1.0:0.0:0.0	.	543;555	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	S	555;543;543	ENSP00000415434:A555S;ENSP00000251722:A543S;ENSP00000387898:A543S	ENSP00000251722:A543S	A	-	1	0	USP40	234100887	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	7.437000	0.80417	2.465000	0.83290	0.591000	0.81541	GCT		0.403	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		15	15	1	0	1.67942e-08	0.006122	2.43915e-08	15	15				
COL6A3	1293	broad.mit.edu	37	2	238250709	238250709	+	Splice_Site	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr2:238250709C>T	ENST00000295550.4	-	37	8216	c.7764G>A	c.(7762-7764)ttG>ttA	p.L2588L	COL6A3_ENST00000347401.3_Splice_Site_p.L2387L|COL6A3_ENST00000409809.1_Splice_Site_p.L2382L|COL6A3_ENST00000346358.4_Splice_Site_p.L2388L|COL6A3_ENST00000353578.4_Splice_Site_p.L2382L|COL6A3_ENST00000472056.1_Splice_Site_p.L1981L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2588	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACAGCTTACCCAAGCAAACAT	0.463																																							uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(7762-7764)TTG>TTA		alpha 3 type VI collagen isoform 1 precursor							82.0	69.0	73.0					2																	238250709		2203	4300	6503	SO:0001630	splice_region_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238250709C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7765+1G>A	2.37:g.238250709C>T						COL6A3_uc002vwo.2_Silent_p.L2382L|COL6A3_uc010znj.1_Silent_p.L1981L|COL6A3_uc002vwj.2_5'UTR	p.L2588L	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	37	8049	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2588			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.7764G>A	CCDS33412.1																																																																																				0.463	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	Silent	5	21	0	0	0	0.000602	0	5	21				
PROKR2	128674	broad.mit.edu	37	20	5294591	5294591	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr20:5294591G>T	ENST00000217270.3	-	1	424	c.425C>A	c.(424-426)tCc>tAc	p.S142Y	PROKR2_ENST00000546004.1_Missense_Mutation_p.S142Y	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	142					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GGCATTGGTGGAGACGTAGAG	0.597										HNSCC(71;0.22)																													uc010zqw.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(424-426)TCC>TAC		prokineticin receptor 2							72.0	56.0	62.0					20																	5294591		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5294591G>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.425C>A	20.37:g.5294591G>T	ENSP00000217270:p.Ser142Tyr	HNSCC(71;0.22)				PROKR2_uc010zqx.1_Missense_Mutation_p.S142Y|PROKR2_uc010zqy.1_Missense_Mutation_p.S142Y|uc002wly.1_5'Flank	p.S142Y	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			1	425	-			142			Helical; Name=3; (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.425C>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586652	0.86851	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.56103	0.48;0.48	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.056733	0.64402	D	0.000001	D	0.82384	0.5025	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88722	0.3230	10	0.87932	D	0	.	16.398	0.83630	0.0:0.0:1.0:0.0	.	142	Q8NFJ6	PKR2_HUMAN	Y	142	ENSP00000440790:S142Y;ENSP00000217270:S142Y	ENSP00000217270:S142Y	S	-	2	0	PROKR2	5242591	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.849000	0.86908	2.525000	0.85131	0.643000	0.83706	TCC		0.597	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		17	13	1	0	1.5739e-10	0.004007	2.43674e-10	17	13				
ASXL1	171023	broad.mit.edu	37	20	31022609	31022609	+	Silent	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr20:31022609G>T	ENST00000375687.4	+	13	2518	c.2094G>T	c.(2092-2094)ccG>ccT	p.P698P	ASXL1_ENST00000306058.5_Silent_p.P693P	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	698					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AACTACTGCCGCCTTATCCTC	0.587			"""F, N, Mis"""		"""MDS, CMML"""																																		uc002wxs.2		NA		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		0				haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(2092-2094)CCG>CCT		additional sex combs like 1 isoform 1							54.0	47.0	50.0					20																	31022609		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022609G>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2094G>T	20.37:g.31022609G>T						ASXL1_uc010geb.2_Silent_p.P589P	p.P698P	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	2520	+			698					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.2094G>T	CCDS13201.1																																																																																				0.587	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		6	17	1	0	0.00448238	0.004482	0.00551261	6	17				
SPATA2	9825	broad.mit.edu	37	20	48522689	48522689	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr20:48522689T>A	ENST00000422556.1	-	3	1379	c.1030A>T	c.(1030-1032)Agg>Tgg	p.R344W	SPATA2_ENST00000543716.1_Missense_Mutation_p.R207W|SPATA2_ENST00000289431.5_Missense_Mutation_p.R344W	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	344					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TAGGTGGCCCTGGGTTCAGAG	0.637																																							uc010gie.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1030-1032)AGG>TGG		spermatogenesis associated 2							51.0	55.0	54.0					20																	48522689		2203	4300	6503	SO:0001583	missense	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48522689T>A	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.1030A>T	20.37:g.48522689T>A	ENSP00000416799:p.Arg344Trp					SPATA2_uc002xuw.2_Missense_Mutation_p.R344W|SPATA2_uc010zyn.1_Missense_Mutation_p.R207W	p.R344W	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	1380	-	Hepatocellular(150;0.133)		344					E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	c.1030A>T	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.536900	0.65085	.	.	ENSG00000158480	ENST00000289431;ENST00000422556;ENST00000543716	T;T;T	0.51325	0.72;0.72;0.71	4.23	1.86	0.25419	.	0.202482	0.32935	N	0.005469	T	0.42404	0.1201	L	0.53249	1.67	0.46542	D	0.99909	P	0.39157	0.662	B	0.38655	0.278	T	0.36504	-0.9745	10	0.72032	D	0.01	-22.0632	10.8965	0.47025	0.0:0.0:0.3008:0.6992	.	344	Q9UM82	SPAT2_HUMAN	W	344;344;207	ENSP00000289431:R344W;ENSP00000416799:R344W;ENSP00000438855:R207W	ENSP00000289431:R344W	R	-	1	2	SPATA2	47956096	0.987000	0.35691	0.896000	0.35187	0.946000	0.59487	1.638000	0.37165	0.162000	0.19483	0.413000	0.27773	AGG		0.637	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		24	25	0	0	0	0.00278	0	24	25				
TTC3	7267	broad.mit.edu	37	21	38538740	38538740	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr21:38538740G>T	ENST00000399017.2	+	33	6971	c.4224G>T	c.(4222-4224)gaG>gaT	p.E1408D	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.E1408D|TTC3_ENST00000354749.2_Missense_Mutation_p.E1408D	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1408					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGATCCTTGAGGGCTCTTTGG	0.438																																					Ovarian(38;194 1649 35661)	Ovarian(38;194 1649 35661)	uc002yvz.2		NA																	0				skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(4222-4224)GAG>GAT		tetratricopeptide repeat domain 3							120.0	114.0	116.0					21																	38538740		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38538740G>T	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.4224G>T	21.37:g.38538740G>T	ENSP00000381981:p.Glu1408Asp					TTC3_uc011aee.1_Missense_Mutation_p.E1098D|TTC3_uc002ywa.2_Missense_Mutation_p.E1408D|TTC3_uc002ywb.2_Missense_Mutation_p.E1408D|TTC3_uc010gnf.2_Missense_Mutation_p.E1173D|TTC3_uc002ywc.2_Missense_Mutation_p.E1098D|TTC3_uc002ywd.1_Missense_Mutation_p.E472D	p.E1408D	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			33	4329	+		Myeloproliferative disorder(46;0.0412)	1408					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.4224G>T	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314990	0.23908	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.10099	2.91;2.91;2.91	4.85	-2.19	0.07015	.	1.294670	0.05352	N	0.532021	T	0.08044	0.0201	L	0.40543	1.245	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.002	T	0.39542	-0.9609	9	.	.	.	-1.963	2.645	0.04981	0.3103:0.1157:0.456:0.1179	.	466;1408	Q5GIT6;P53804	.;TTC3_HUMAN	D	1408	ENSP00000347889:E1408D;ENSP00000381981:E1408D;ENSP00000346791:E1408D	.	E	+	3	2	TTC3	37460610	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.816000	0.04477	-0.566000	0.06054	-1.822000	0.00598	GAG		0.438	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			37	39	1	0	1.22674e-20	0.00874	2.25396e-20	37	39				
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	rs371769427		TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"""CLL, MDS"""																																		uc002zda.1		NA		Dom	yes		21	21q22.3	7307		U2 small nuclear RNA auxiliary factor 1			L					57	Substitution - Missense(57)		haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)		0						c.(100-102)TCT>TTT		U2 small nuclear RNA auxillary factor 1 isoform		G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67.0	64.0	65.0		101,101,	5.5	1.0	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44524456G>A	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe					U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.S34F|U2AF1_uc010gpi.1_Missense_Mutation_p.S34F|U2AF1_uc002zdc.1_Missense_Mutation_p.S34F	p.S34F	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN			2	185	-			34			C3H1-type 1.		Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.101C>T	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		3	6	0	0	0	0.004672	0	3	6				
C22orf42	150297	broad.mit.edu	37	22	32546391	32546391	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr22:32546391A>G	ENST00000382097.3	-	7	641	c.569T>C	c.(568-570)cTa>cCa	p.L190P	C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	190										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						AGAGACAGATAGGCTTTCACT	0.438																																							uc003amd.2		NA																	0				ovary(1)|skin(1)	2						c.(568-570)CTA>CCA		chromosome 22 open reading frame 42							146.0	131.0	136.0					22																	32546391		2203	4300	6503	SO:0001583	missense	150297							g.chr22:32546391A>G	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.569T>C	22.37:g.32546391A>G	ENSP00000371529:p.Leu190Pro						p.L190P	NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN			7	610	-			190					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.569T>C	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	a	3.134	-0.177817	0.06380	.	.	ENSG00000205856	ENST00000382097	T	0.25749	1.78	0.637	-1.27	0.09347	.	.	.	.	.	T	0.20861	0.0502	N	0.08118	0	0.09310	N	1	D	0.54397	0.966	P	0.61070	0.883	T	0.15896	-1.0421	8	0.87932	D	0	.	.	.	.	.	190	Q6IC83	CV042_HUMAN	P	190	ENSP00000371529:L190P	ENSP00000371529:L190P	L	-	2	0	C22orf42	30876391	0.015000	0.18098	0.001000	0.08648	0.151000	0.21798	-0.473000	0.06615	-0.875000	0.04022	0.076000	0.15429	CTA		0.438	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		39	39	0	0	0	0.00623	0	39	39				
GCAT	23464	broad.mit.edu	37	22	38211724	38211724	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr22:38211724G>C	ENST00000248924.6	+	7	925	c.869G>C	c.(868-870)cGg>cCg	p.R290P	GCAT_ENST00000323205.6_Missense_Mutation_p.R316P	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	290					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	CAGCGCGCCCGGCCATACCTC	0.642																																							uc003atz.2		NA																	0					0						c.(868-870)CGG>CCG		glycine C-acetyltransferase precursor	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						81.0	91.0	87.0					22																	38211724		2203	4300	6503	SO:0001583	missense	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38211724G>C	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.869G>C	22.37:g.38211724G>C	ENSP00000248924:p.Arg290Pro					GCAT_uc003aua.1_Missense_Mutation_p.R316P	p.R290P	NM_014291	NP_055106	O75600	KBL_HUMAN			7	889	+	Melanoma(58;0.045)		290					E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	ENST00000248924.6	37	c.869G>C	CCDS13957.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529547	0.64860	.	.	ENSG00000100116	ENST00000323205;ENST00000248924	D;D	0.91792	-2.91;-2.91	4.72	3.69	0.42338	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95265	0.8464	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.95620	0.8680	10	0.87932	D	0	-23.2087	14.4977	0.67700	0.0:0.0:0.8526:0.1474	.	316;290	E2QC23;O75600	.;KBL_HUMAN	P	316;290	ENSP00000371110:R316P;ENSP00000248924:R290P	ENSP00000248924:R290P	R	+	2	0	GCAT	36541670	1.000000	0.71417	0.984000	0.44739	0.491000	0.33493	7.310000	0.78947	1.198000	0.43158	0.561000	0.74099	CGG		0.642	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		49	67	0	0	0	0.00361	0	49	67				
CPT1B	1375	broad.mit.edu	37	22	51015406	51015406	+	Silent	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr22:51015406G>A	ENST00000360719.2	-	4	476	c.339C>T	c.(337-339)tcC>tcT	p.S113S	CPT1B_ENST00000434492.2_5'UTR|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000395650.2_Silent_p.S113S|CPT1B_ENST00000457250.1_Silent_p.S113S|CPT1B_ENST00000312108.7_Silent_p.S113S|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000405237.3_Silent_p.S113S|CPT1B_ENST00000440709.1_Silent_p.S113S	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	113					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AGACGCCCGTGGAGAAGATGG	0.607											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(170;988 1933 25577 30295 48163)	Esophageal Squamous(170;988 1933 25577 30295 48163)	uc003bmk.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(337-339)TCC>TCT		carnitine palmitoyltransferase 1B isoform a							95.0	101.0	99.0					22																	51015406		2203	4300	6503	SO:0001819	synonymous_variant	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51015406G>A	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.339C>T	22.37:g.51015406G>A			OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	974	CPT1B_uc003bml.2_Silent_p.S113S|CPT1B_uc003bmm.2_Silent_p.S113S|CPT1B_uc003bmo.2_Silent_p.S113S|CPT1B_uc011asa.1_Silent_p.S113S|CPT1B_uc003bmn.2_Silent_p.S113S|CPT1B_uc011asb.1_Silent_p.S113S|CHKB-CPT1B_uc003bmp.2_5'UTR	p.S113S	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	3	501	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	113			Helical; (Potential).		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	37	c.339C>T	CCDS14098.1																																																																																				0.607	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		49	55	0	0	0	0.00361	0	49	55				
CMTM7	112616	broad.mit.edu	37	3	32495741	32495741	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr3:32495741G>T	ENST00000334983.5	+	5	759	c.523G>T	c.(523-525)Gtc>Ttc	p.V175F	CMTM7_ENST00000349718.4_Missense_Mutation_p.V142F	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	175					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(1)|lung(2)	4						AGATGCAGCCGTCTGATGAGG	0.587																																							uc003cey.1		NA																	0					0						c.(523-525)GTC>TTC		CKLF-like MARVEL transmembrane domain containing							98.0	83.0	88.0					3																	32495741		2203	4300	6503	SO:0001583	missense	112616				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr3:32495741G>T	AF479263	CCDS33730.1, CCDS33731.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000153551	ENSG00000153551			19178	protein-coding gene	gene with protein product		607890	"""chemokine-like factor super family 7"", ""chemokine-like factor superfamily 7"""	CKLFSF7			Standard	NM_138410		Approved	FLJ30992	uc003cey.1	Q96FZ5	OTTHUMG00000155869	ENST00000334983.5:c.523G>T	3.37:g.32495741G>T	ENSP00000335605:p.Val175Phe					CMTM7_uc003cez.1_Missense_Mutation_p.V142F	p.V175F	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN			5	759	+			175					Q5VLK1	Missense_Mutation	SNP	ENST00000334983.5	37	c.523G>T	CCDS33730.1	.	.	.	.	.	.	.	.	.	.	G	9.972	1.225653	0.22542	.	.	ENSG00000153551	ENST00000334983;ENST00000349718	T	0.39056	1.1	3.55	1.75	0.24633	.	.	.	.	.	T	0.48205	0.1487	L	0.46157	1.445	0.09310	N	1	P;D	0.63880	0.739;0.993	B;P	0.60117	0.239;0.869	T	0.28138	-1.0053	9	0.72032	D	0.01	.	5.8127	0.18475	0.2458:0.0:0.7542:0.0	.	142;175	Q5VLK1;Q96FZ5	.;CKLF7_HUMAN	F	175;142	ENSP00000335605:V175F	ENSP00000335605:V175F	V	+	1	0	CMTM7	32470745	0.022000	0.18835	0.001000	0.08648	0.052000	0.14988	1.600000	0.36762	0.490000	0.27771	-0.137000	0.14449	GTC		0.587	CMTM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342084.1			16	41	1	0	5.3912e-06	0.006122	7.21192e-06	16	41				
NKTR	4820	broad.mit.edu	37	3	42685392	42685392	+	Splice_Site	SNP	A	A	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr3:42685392A>T	ENST00000232978.8	+	16	4387		c.e16-1		RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor						protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CCGTTAAAGCAGGTCCTACAC	0.443																																							uc003clo.2		NA																	0				ovary(2)|skin(1)	3						c.e16-2		natural killer-tumor recognition sequence							129.0	102.0	111.0					3																	42685392		2203	4300	6503	SO:0001630	splice_region_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42685392A>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.4200-1A>T	3.37:g.42685392A>T						NKTR_uc003clp.2_Missense_Mutation_p.R1148W|NKTR_uc011azp.1_Silent_p.A210A|NKTR_uc003cls.2_Splice_Site_p.R1100_splice	p.R1400_splice	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	16	4347	+									Splice_Site	SNP	ENST00000232978.8	37	c.4200_splice	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823448	0.71143	.	.	ENSG00000114857	ENST00000232978	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6051	0.51026	0.8513:0.1487:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NKTR	42660396	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.288000	0.65651	2.105000	0.64084	0.533000	0.62120	.		0.443	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385	Intron	12	18	0	0	0	0.001368	0	12	18				
DUSP7	1849	broad.mit.edu	37	3	52088311	52088311	+	Silent	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr3:52088311C>A	ENST00000495880.1	-	2	780	c.597G>T	c.(595-597)tcG>tcT	p.S199S	DUSP7_ENST00000296483.6_Silent_p.S148S			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	199	Ser-rich.				inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGTGGGTGGCGAGCTGCTCG	0.627																																							uc003dct.2		NA																	0				ovary(1)	1						c.(595-597)TCG>TCT		dual specificity phosphatase 7							50.0	55.0	53.0					3																	52088311		2203	4300	6503	SO:0001819	synonymous_variant	1849				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52088311C>A	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.597G>T	3.37:g.52088311C>A						DUSP7_uc010hma.2_Silent_p.S199S	p.S199S	NM_001947	NP_001938	Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	676	-			199			Ser-rich.		Q2M3J7|Q8NFJ0	Silent	SNP	ENST00000495880.1	37	c.597G>T	CCDS33766.2																																																																																				0.627	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		13	42	1	0	1.49906e-05	0.00245	1.97928e-05	13	42				
CNTN3	5067	broad.mit.edu	37	3	74316416	74316416	+	Splice_Site	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr3:74316416C>T	ENST00000263665.6	-	20	2845		c.e20+1		CNTN3_ENST00000477856.1_Splice_Site	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)						cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AGAAAACTTACTTTATATCCT	0.338																																							uc003dpm.1		NA																	0				breast(3)|ovary(1)|skin(1)	5						c.e20+1		contactin 3 precursor							142.0	136.0	138.0					3																	74316416		2203	4300	6503	SO:0001630	splice_region_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74316416C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2817+1G>A	3.37:g.74316416C>T							p.K939_splice	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	20	2897	-		Lung NSC(201;0.138)|Lung SC(41;0.21)						B9EK50|Q9H039	Splice_Site	SNP	ENST00000263665.6	37	c.2817_splice	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139974	0.77775	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0224	0.92920	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNTN3	74399106	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.185000	0.77714	2.477000	0.83638	0.655000	0.94253	.		0.338	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	Intron	9	53	0	0	0	0.004482	0	9	53				
NFKBIZ	64332	broad.mit.edu	37	3	101574687	101574687	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr3:101574687A>G	ENST00000326172.5	+	9	1880	c.1765A>G	c.(1765-1767)Aag>Gag	p.K589E	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.K467E|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.K489E	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	589	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						ACTGAAGAATAAGAGTCTGGT	0.448																																							uc003dvp.2		NA																	0				ovary(2)	2						c.(1765-1767)AAG>GAG		nuclear factor of kappa light polypeptide gene							91.0	88.0	89.0					3																	101574687		2203	4300	6503	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101574687A>G	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1765A>G	3.37:g.101574687A>G	ENSP00000325663:p.Lys589Glu					NFKBIZ_uc003dvo.2_Missense_Mutation_p.K489E|NFKBIZ_uc010hpo.2_Missense_Mutation_p.K489E|NFKBIZ_uc003dvq.2_Missense_Mutation_p.K467E	p.K589E	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN			9	1880	+			589			Interaction with NFKB1/p50 (By similarity).|ANK 5.		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.1765A>G	CCDS2946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.83|19.83	3.899577|3.899577	0.72754|0.72754	.|.	.|.	ENSG00000144802|ENSG00000144802	ENST00000477601|ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	.|T;T;T;T	.|0.56103	.|0.53;0.48;0.59;0.58	5.92|5.92	5.92|5.92	0.95590|0.95590	.|Ankyrin repeat-containing domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55625|0.55625	0.1932|0.1932	L|L	0.27944|0.27944	0.81|0.81	0.50632|0.50632	D|D	0.999887|0.999887	.|P;P	.|0.43701	.|0.663;0.815	.|B;P	.|0.54026	.|0.323;0.74	T|T	0.53711|0.53711	-0.8400|-0.8400	5|10	.|0.37606	.|T	.|0.19	-21.3986|-21.3986	16.3604|16.3604	0.83263|0.83263	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|467;589	.|Q9BYH8-3;Q9BYH8	.|.;IKBZ_HUMAN	M|E	37|489;489;467;589	.|ENSP00000419800:K489E;ENSP00000377618:K489E;ENSP00000325593:K467E;ENSP00000325663:K589E	.|ENSP00000325593:K467E	I|K	+|+	3|1	3|0	NFKBIZ|NFKBIZ	103057377|103057377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.723000|4.723000	0.61965|0.61965	2.260000|2.260000	0.74910|0.74910	0.528000|0.528000	0.53228|0.53228	ATA|AAG		0.448	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		13	25	0	0	0	0.001368	0	13	25				
COL6A5	256076	broad.mit.edu	37	3	130159301	130159301	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr3:130159301T>A	ENST00000432398.2	+	35	6613	c.6119T>A	c.(6118-6120)cTa>cAa	p.L2040Q	COL6A5_ENST00000265379.6_Missense_Mutation_p.L2040Q	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2040	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AACCAACTCCTAATGAAGAAT	0.408																																							uc010htj.1		NA																	0					0						c.(6118-6120)CTA>CAA		collagen, type XXIX, alpha 1							92.0	88.0	89.0					3																	130159301		1895	4119	6014	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130159301T>A	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6119T>A	3.37:g.130159301T>A	ENSP00000390895:p.Leu2040Gln					COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.L79Q	p.L2040Q	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			35	6613	+			2040			VWFA 9.|Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6119T>A		.	.	.	.	.	.	.	.	.	.	T	9.719	1.159140	0.21454	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.83250	-1.7;-1.7	5.76	4.56	0.56223	von Willebrand factor, type A (3);	0.227200	0.22581	N	0.058204	T	0.68339	0.2990	N	0.16656	0.425	0.26554	N	0.97386	P;P	0.51351	0.521;0.944	B;B	0.41440	0.357;0.341	T	0.59107	-0.7516	10	0.13853	T	0.58	.	11.1527	0.48469	0.1384:0.0:0.0:0.8616	.	2040;2040	A8TX70;A8TX70-2	CO6A5_HUMAN;.	Q	2040	ENSP00000390895:L2040Q;ENSP00000265379:L2040Q	ENSP00000265379:L2040Q	L	+	2	0	COL6A5	131641991	0.970000	0.33590	0.038000	0.18304	0.176000	0.22953	3.002000	0.49496	0.952000	0.37798	0.533000	0.62120	CTA		0.408	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		14	67	0	0	0	0.003163	0	14	67				
PIK3CB	5291	broad.mit.edu	37	3	138456718	138456718	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr3:138456718C>A	ENST00000477593.1	-	5	705	c.632G>T	c.(631-633)aGc>aTc	p.S211I	PIK3CB_ENST00000289153.2_Missense_Mutation_p.S211I			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	211	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CACTTGAAAGCTAAACACGTC	0.348																																							uc011bmq.1		NA																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(631-633)AGC>ATC		catalytic phosphatidylinositol 3-kinase beta							57.0	56.0	56.0					3																	138456718		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138456718C>A		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.632G>T	3.37:g.138456718C>A	ENSP00000418143:p.Ser211Ile						p.S211I	NM_006219	NP_006210	P42338	PK3CB_HUMAN			4	632	-			211			PI3K-RBD.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.632G>T	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.202014|4.202014	0.79127|0.79127	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000462294|ENST00000477593;ENST00000289153	.|T;T	.|0.47528	.|0.84;0.84	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Phosphoinositide 3-kinase, ras-binding (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55000|0.55000	0.1893|0.1893	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|P	.|0.43352	.|0.804	.|P	.|0.47346	.|0.544	T|T	0.53330|0.53330	-0.8454|-0.8454	5|10	.|0.72032	.|D	.|0.01	-15.9882|-15.9882	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|211	.|P42338	.|PK3CB_HUMAN	S|I	79|211	.|ENSP00000418143:S211I;ENSP00000289153:S211I	.|ENSP00000289153:S211I	A|S	-|-	1|2	0|0	PIK3CB|PIK3CB	139939408|139939408	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.643000|0.643000	0.38383|0.38383	6.516000|6.516000	0.73755|0.73755	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.348	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			6	26	1	0	8.12818e-05	0.001984	0.000105944	6	26				
TM4SF4	7104	broad.mit.edu	37	3	149193609	149193609	+	Splice_Site	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr3:149193609G>T	ENST00000305354.4	+	2	1078		c.e2-1			NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4						tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCTCCTGGTAGATGATCTTCC	0.572																																							uc003exd.1		NA																	0					0						c.e2-1		transmembrane 4 superfamily member 4							45.0	46.0	46.0					3																	149193609		2017	4181	6198	SO:0001630	splice_region_variant	7104					integral to membrane		g.chr3:149193609G>T		CCDS46932.1	3q25	2005-03-21	2005-03-21		ENSG00000169903	ENSG00000169903			11856	protein-coding gene	gene with protein product		606567	"""transmembrane 4 superfamily member 4"""			7665614	Standard	NM_004617		Approved	il-TMP	uc003exd.2	P48230	OTTHUMG00000159619	ENST00000305354.4:c.175-1G>T	3.37:g.149193609G>T							p.M59_splice	NM_004617	NP_004608	P48230	T4S4_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		2	406	+								B2RDA4	Splice_Site	SNP	ENST00000305354.4	37	c.175_splice	CCDS46932.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834876	0.50951	.	.	ENSG00000169903	ENST00000305354	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8466	0.92209	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TM4SF4	150676299	1.000000	0.71417	0.994000	0.49952	0.492000	0.33523	9.229000	0.95273	2.519000	0.84933	0.655000	0.94253	.		0.572	TM4SF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356528.1		Intron	7	15	1	0	2.7689e-08	0.001984	3.98355e-08	7	15				
SI	6476	broad.mit.edu	37	3	164727105	164727105	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr3:164727105A>G	ENST00000264382.3	-	35	4203	c.4141T>C	c.(4141-4143)Ttt>Ctt	p.F1381L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1381	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCATTGTAAAAGTCCACAATT	0.368										HNSCC(35;0.089)																													uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4141-4143)TTT>CTT		sucrase-isomaltase	Acarbose(DB00284)						96.0	96.0	96.0					3																	164727105		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164727105A>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4141T>C	3.37:g.164727105A>G	ENSP00000264382:p.Phe1381Leu	HNSCC(35;0.089)					p.F1381L	NM_001041	NP_001032	P14410	SUIS_HUMAN			35	4203	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1381			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4141T>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	5.125	0.208630	0.09757	.	.	ENSG00000090402	ENST00000264382	D	0.91686	-2.89	4.65	4.65	0.58169	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86932	0.6052	L	0.46670	1.46	0.38403	D	0.945701	B	0.11235	0.004	B	0.18871	0.023	T	0.81577	-0.0869	10	0.22706	T	0.39	.	7.6546	0.28369	0.7216:0.1417:0.0:0.1367	.	1381	P14410	SUIS_HUMAN	L	1381	ENSP00000264382:F1381L	ENSP00000264382:F1381L	F	-	1	0	SI	166209799	1.000000	0.71417	0.996000	0.52242	0.031000	0.12232	4.440000	0.59975	1.961000	0.56991	0.402000	0.26972	TTT		0.368	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		3	62	0	0	0	0.004672	0	3	62				
MFSD7	84179	broad.mit.edu	37	4	678304	678304	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr4:678304C>A	ENST00000404286.2	-	6	826	c.811G>T	c.(811-813)Gag>Tag	p.E271*	MFSD7_ENST00000503156.1_Nonsense_Mutation_p.E206*|MFSD7_ENST00000515118.1_Nonsense_Mutation_p.E174*|MFSD7_ENST00000347950.5_Nonsense_Mutation_p.E152*|MFSD7_ENST00000322224.4_Nonsense_Mutation_p.E270*|MFSD7_ENST00000513740.1_5'Flank	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	271					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						AGGATCTGCTCCAGGAGGGCT	0.622											OREG0016025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003gay.2		NA																	0					0						c.(811-813)GAG>TAG		major facilitator superfamily domain containing							87.0	89.0	88.0					4																	678304		2203	4300	6503	SO:0001587	stop_gained	84179				transmembrane transport	integral to membrane		g.chr4:678304C>A	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.811G>T	4.37:g.678304C>A	ENSP00000384616:p.Glu271*		OREG0016025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	590	MFSD7_uc003gaw.2_Nonsense_Mutation_p.E13*|MFSD7_uc003gax.2_Nonsense_Mutation_p.E270*|MFSD7_uc003gaz.2_Nonsense_Mutation_p.E152*|MFSD7_uc003gba.2_Nonsense_Mutation_p.E174*|MFSD7_uc003gbb.1_Nonsense_Mutation_p.E206*	p.E271*	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN			6	868	-			271					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Nonsense_Mutation	SNP	ENST00000404286.2	37	c.811G>T		.	.	.	.	.	.	.	.	.	.	C	23.4	4.412639	0.83340	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118;ENST00000503156;ENST00000507165	.	.	.	4.73	3.0	0.34707	.	0.181333	0.46442	D	0.000299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-30.5045	6.772	0.23598	0.0:0.7276:0.1764:0.0961	.	.	.	.	X	152;270;271;174;206;207	.	ENSP00000320234:E270X	E	-	1	0	MFSD7	668304	1.000000	0.71417	1.000000	0.80357	0.000000	0.00434	1.764000	0.38471	0.613000	0.30089	-1.672000	0.00744	GAG		0.622	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		53	63	1	0	9.90819e-18	0.00361	1.71704e-17	53	63				
OTOP1	133060	broad.mit.edu	37	4	4214688	4214688	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr4:4214688G>T	ENST00000296358.4	-	2	471	c.447C>A	c.(445-447)tgC>tgA	p.C149*		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	149					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAATTTTAAGGCATCCCAGGA	0.408																																							uc003ghp.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(445-447)TGC>TGA		otopetrin 1							62.0	56.0	58.0					4																	4214688		2203	4300	6503	SO:0001587	stop_gained	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4214688G>T	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.447C>A	4.37:g.4214688G>T	ENSP00000296358:p.Cys149*						p.C149*	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	477	-			149			Helical; (Potential).		A1L476	Nonsense_Mutation	SNP	ENST00000296358.4	37	c.447C>A	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804709	0.90623	.	.	ENSG00000163982	ENST00000296358	.	.	.	4.71	1.91	0.25777	.	0.187114	0.46145	D	0.000307	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	7.4922	0.27469	0.4764:0.0:0.5236:0.0	.	.	.	.	X	149	.	ENSP00000296358:C149X	C	-	3	2	OTOP1	4265589	1.000000	0.71417	0.685000	0.30070	0.910000	0.53928	1.256000	0.32921	0.130000	0.18549	-0.310000	0.09108	TGC		0.408	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		6	16	1	0	3.59834e-05	0.001168	4.73057e-05	6	16				
NOA1	84273	broad.mit.edu	37	4	57843074	57843074	+	Silent	SNP	C	C	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr4:57843074C>G	ENST00000264230.4	-	1	1915	c.678G>C	c.(676-678)ctG>ctC	p.L226L	POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000441246.2_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	226	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										GGGCGTCGGGCAGGTCCAGCA	0.697																																							uc003hck.2		NA																	0				ovary(1)|breast(1)	2						c.(676-678)CTG>CTC		hypothetical protein LOC84273							27.0	33.0	31.0					4																	57843074		2202	4293	6495	SO:0001819	synonymous_variant	84273						GTP binding	g.chr4:57843074C>G	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.678G>C	4.37:g.57843074C>G						POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	p.L226L	NM_032313	NP_115689	Q8NC60	CD014_HUMAN			1	753	-	Glioma(25;0.08)|all_neural(26;0.181)		226					Q8N7L6|Q9BSQ9	Silent	SNP	ENST00000264230.4	37	c.678G>C	CCDS3510.1																																																																																				0.697	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		14	49	0	0	0	0.001855	0	14	49				
CABS1	85438	broad.mit.edu	37	4	71201618	71201618	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr4:71201618G>T	ENST00000273936.5	+	1	936	c.862G>T	c.(862-864)Gat>Tat	p.D288Y		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	288					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCTGCTAACTGATGAAGAAAC	0.413																																							uc003hff.2		NA																	0					0						c.(862-864)GAT>TAT		testis development protein NYD-SP26							104.0	98.0	100.0					4																	71201618		2203	4300	6503	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71201618G>T	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.862G>T	4.37:g.71201618G>T	ENSP00000273936:p.Asp288Tyr						p.D288Y	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			1	948	+		all_hematologic(202;0.196)	288					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.862G>T	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079195	0.55753	.	.	ENSG00000145309	ENST00000273936	T	0.30182	1.54	4.57	3.73	0.42828	.	0.340768	0.21376	N	0.075550	T	0.39358	0.1075	L	0.32530	0.975	0.27201	N	0.960158	D	0.89917	1.0	D	0.68483	0.958	T	0.10291	-1.0636	10	0.56958	D	0.05	-4.0631	8.8371	0.35119	0.1032:0.0:0.8968:0.0	.	288	Q96KC9	CABS1_HUMAN	Y	288	ENSP00000273936:D288Y	ENSP00000273936:D288Y	D	+	1	0	CABS1	71236207	0.563000	0.26594	0.638000	0.29380	0.044000	0.14063	0.734000	0.26101	1.275000	0.44379	0.655000	0.94253	GAT		0.413	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		8	25	1	0	9.70103e-10	0.008291	1.4504e-09	8	25				
ADAMTS3	9508	broad.mit.edu	37	4	73148902	73148902	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr4:73148902T>G	ENST00000286657.4	-	22	3605	c.3569A>C	c.(3568-3570)aAg>aCg	p.K1190T		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1190					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCAATGATCTTTCCATCTTT	0.448																																					NSCLC(168;1941 2048 2918 13048 43078)	NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1		NA																	0				ovary(1)|lung(1)	2						c.(3568-3570)AAG>ACG		ADAM metallopeptidase with thrombospondin type 1							166.0	152.0	157.0					4																	73148902		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73148902T>G	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.3569A>C	4.37:g.73148902T>G	ENSP00000286657:p.Lys1190Thr						p.K1190T	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		22	3606	-			1190					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.3569A>C	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	9.849	1.193145	0.22037	.	.	ENSG00000156140	ENST00000286657	T	0.64803	-0.12	5.78	4.6	0.57074	.	0.428468	0.20045	N	0.100436	T	0.60117	0.2244	L	0.55481	1.735	0.40741	D	0.982832	P	0.41366	0.747	B	0.42827	0.399	T	0.62613	-0.6817	10	0.66056	D	0.02	.	10.4419	0.44471	0.0:0.1354:0.0:0.8646	.	1190	O15072	ATS3_HUMAN	T	1190	ENSP00000286657:K1190T	ENSP00000286657:K1190T	K	-	2	0	ADAMTS3	73367766	0.392000	0.25229	0.933000	0.37362	0.468000	0.32798	1.035000	0.30216	1.012000	0.39366	0.482000	0.46254	AAG		0.448	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			11	77	0	0	0	0.001368	0	11	77				
USO1	8615	broad.mit.edu	37	4	76725312	76725312	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr4:76725312A>T	ENST00000538159.1	+	19	2039	c.2039A>T	c.(2038-2040)cAg>cTg	p.Q680L	USO1_ENST00000514213.2_Missense_Mutation_p.Q656L			O60763	USO1_HUMAN	USO1 vesicle transport factor	671					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAATTAAGGCAGCAGGTTTCT	0.368																																							uc003hiu.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2011-2013)CAG>CTG		USO1 homolog, vesicle docking protein							67.0	62.0	64.0					4																	76725312		1899	4120	6019	SO:0001583	missense	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76725312A>T	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.2039A>T	4.37:g.76725312A>T	ENSP00000440586:p.Gln680Leu					USO1_uc003hiv.2_Missense_Mutation_p.Q513L|USO1_uc003hiw.2_Missense_Mutation_p.Q506L	p.Q671L	NM_003715	NP_003706	O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		17	2187	+			671			Potential.		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37	c.2012A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.26|15.26	2.779834|2.779834	0.49891|0.49891	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904|ENST00000441296	T;T|.	0.68025|.	-0.3;-0.3|.	5.35|5.35	5.35|5.35	0.76521|0.76521	Armadillo-type fold (1);|.	0.157959|.	0.56097|.	D|.	0.000024|.	T|T	0.68961|0.68961	0.3058|0.3058	L|L	0.54323|0.54323	1.7|1.7	0.51767|0.51767	D|D	0.999933|0.999933	B;B|.	0.23128|.	0.08;0.009|.	B;B|.	0.20184|.	0.028;0.004|.	T|T	0.67417|0.67417	-0.5676|-0.5676	10|5	0.39692|.	T|.	0.17|.	.|.	15.3415|15.3415	0.74300|0.74300	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	680;671|.	F5GYR8;O60763|.	.;USO1_HUMAN|.	L|C	506;680;656;599|347	ENSP00000440586:Q680L;ENSP00000444850:Q656L|.	ENSP00000264904:Q599L|.	Q|S	+|+	2|1	0|0	USO1|USO1	76944336|76944336	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.235000|0.235000	0.25334|0.25334	5.839000|5.839000	0.69395|0.69395	2.044000|2.044000	0.60594|0.60594	0.459000|0.459000	0.35465|0.35465	CAG|AGC		0.368	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		10	8	0	0	0	0.006214	0	10	8				
NEUROG2	63973	broad.mit.edu	37	4	113436575	113436575	+	Silent	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr4:113436575C>A	ENST00000313341.3	-	2	383	c.57G>T	c.(55-57)ctG>ctT	p.L19L	RP11-402J6.1_ENST00000506057.1_RNA|RP11-402J6.1_ENST00000504009.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	19					axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		CCGATCCGAGCAGCACTAACA	0.622																																							uc003ias.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(55-57)CTG>CTT		neurogenin 2							44.0	38.0	40.0					4																	113436575		2139	4144	6283	SO:0001819	synonymous_variant	63973				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	g.chr4:113436575C>A	AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.57G>T	4.37:g.113436575C>A							p.L19L	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00168)	2	384	-		Ovarian(17;0.156)	19					Q8N416	Silent	SNP	ENST00000313341.3	37	c.57G>T	CCDS3698.1																																																																																				0.622	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019		9	33	1	0	3.09899e-07	0.004482	4.20085e-07	9	33				
MMAA	166785	broad.mit.edu	37	4	146560343	146560343	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr4:146560343A>G	ENST00000281317.5	+	2	1262	c.52A>G	c.(52-54)Aga>Gga	p.R18G	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	18					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGCCTTTTAAGAGCACCTTT	0.438																																							uc003ikh.3		NA																	0				ovary(1)	1						c.(52-54)AGA>GGA		methylmalonic aciduria type A precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						137.0	135.0	136.0					4																	146560343		2203	4300	6503	SO:0001583	missense	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146560343A>G	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.52A>G	4.37:g.146560343A>G	ENSP00000281317:p.Arg18Gly					MMAA_uc003ikg.2_Missense_Mutation_p.R18G|MMAA_uc003iki.1_RNA|MMAA_uc010iow.2_RNA	p.R18G	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN			2	137	+	all_hematologic(180;0.151)		18					B3KX40|Q495G7	Missense_Mutation	SNP	ENST00000281317.5	37	c.52A>G	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	a	8.998	0.979474	0.18812	.	.	ENSG00000151611	ENST00000281317;ENST00000537246	D	0.92348	-3.02	5.42	-7.28	0.01456	.	0.531523	0.20020	N	0.100934	D	0.86213	0.5879	L	0.40543	1.245	0.09310	N	0.999998	B;B	0.33694	0.089;0.421	B;B	0.29785	0.056;0.107	T	0.69573	-0.5109	10	0.87932	D	0	-10.646	20.3429	0.98773	0.189:0.811:0.0:0.0	.	18;18	Q8IVH4;D6RIS5	MMAA_HUMAN;.	G	18	ENSP00000281317:R18G	ENSP00000281317:R18G	R	+	1	2	MMAA	146779793	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.073000	0.11468	-0.889000	0.03950	-1.333000	0.01266	AGA		0.438	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			22	70	0	0	0	0.001882	0	22	70				
TLR2	7097	broad.mit.edu	37	4	154625452	154625452	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr4:154625452A>T	ENST00000260010.6	+	1	2801	c.1393A>T	c.(1393-1395)Agc>Tgc	p.S465C		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	465					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TTTAGATGTTAGCAACAACAA	0.368																																							uc003inq.2		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(1393-1395)AGC>TGC		toll-like receptor 2 precursor							95.0	98.0	97.0					4																	154625452		2203	4300	6503	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154625452A>T	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1393A>T	4.37:g.154625452A>T	ENSP00000260010:p.Ser465Cys					TLR2_uc003inr.2_Missense_Mutation_p.S465C|TLR2_uc003ins.2_Missense_Mutation_p.S465C	p.S465C	NM_003264	NP_003255	O60603	TLR2_HUMAN			3	1612	+	all_hematologic(180;0.093)	Renal(120;0.117)	465			LRR 12.|Extracellular (Potential).		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.1393A>T	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808618	0.50421	.	.	ENSG00000137462	ENST00000260010	T	0.01221	5.15	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.12008	0.0292	M	0.92026	3.265	0.58432	D	0.999992	D	0.89917	1.0	D	0.76575	0.988	T	0.00605	-1.1648	10	0.87932	D	0	.	15.4738	0.75461	1.0:0.0:0.0:0.0	.	465	O60603	TLR2_HUMAN	C	465	ENSP00000260010:S465C	ENSP00000260010:S465C	S	+	1	0	TLR2	154844902	1.000000	0.71417	0.529000	0.27951	0.082000	0.17680	7.258000	0.78371	2.062000	0.61559	0.460000	0.39030	AGC		0.368	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			34	27	0	0	0	0.003271	0	34	27				
GALNTL6	442117	broad.mit.edu	37	4	173942643	173942643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr4:173942643G>A	ENST00000506823.1	+	12	2162	c.1505G>A	c.(1504-1506)tGg>tAg	p.W502*	GALNTL6_ENST00000508122.1_Nonsense_Mutation_p.W485*	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	502	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.?(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ACCTTTGGATGGAGAGAAGAT	0.478																																							uc003isv.2		NA																	1	Unknown(1)	p.?(1)	breast(1)	breast(2)|ovary(1)|skin(1)	4						c.(1504-1506)TGG>TAG		N-acetylgalactosaminyltransferase-like 6							115.0	109.0	111.0					4																	173942643		2203	4300	6503	SO:0001587	stop_gained	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173942643G>A		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1505G>A	4.37:g.173942643G>A	ENSP00000423313:p.Trp502*						p.W502*	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			12	2241	+			502			Ricin B-type lectin.|Lumenal (Potential).		Q2L4S6	Nonsense_Mutation	SNP	ENST00000506823.1	37	c.1505G>A	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556820	0.86231	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	.	.	.	5.81	5.81	0.92471	.	0.155258	0.47455	D	0.000236	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	20.0817	0.97778	0.0:0.0:1.0:0.0	.	.	.	.	X	502;485	.	ENSP00000423313:W502X	W	+	2	0	GALNTL6	174179218	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	9.437000	0.97535	2.743000	0.94032	0.650000	0.86243	TGG		0.478	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		31	43	0	0	0	0.002836	0	31	43				
CENPU	79682	broad.mit.edu	37	4	185622019	185622019	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr4:185622019T>A	ENST00000281453.5	-	11	1011	c.941A>T	c.(940-942)gAa>gTa	p.E314V	MLF1IP_ENST00000506535.1_Intron|MLF1IP_ENST00000541971.1_Missense_Mutation_p.E314V	NM_024629.3	NP_078905.2														endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		CCTTTTCTTTTCGATATCTGA	0.373																																							uc003iwq.2		NA																	0					0						c.(940-942)GAA>GTA		MLF1 interacting protein							151.0	135.0	140.0					4																	185622019		2203	4300	6503	SO:0001583	missense	79682				CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr4:185622019T>A																												ENST00000281453.5:c.941A>T	4.37:g.185622019T>A	ENSP00000281453:p.Glu314Val					MLF1IP_uc003iwp.2_Intron|MLF1IP_uc003iwr.1_Intron	p.E314V	NM_024629	NP_078905	Q71F23	CENPU_HUMAN		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)	11	1011	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)	314			Nuclear localization signal (Potential).|Potential.			Missense_Mutation	SNP	ENST00000281453.5	37	c.941A>T	CCDS3838.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.142391	0.77888	.	.	ENSG00000151725	ENST00000281453;ENST00000541971	T;T	0.29655	1.56;1.56	4.94	4.94	0.65067	.	0.979103	0.08369	N	0.956419	T	0.49355	0.1552	M	0.62723	1.935	0.31816	N	0.62667	D	0.56746	0.977	P	0.57057	0.812	T	0.50136	-0.8863	10	0.66056	D	0.02	-18.0227	12.2194	0.54425	0.0:0.0:0.0:1.0	.	314	Q71F23	CENPU_HUMAN	V	314	ENSP00000281453:E314V;ENSP00000445862:E314V	ENSP00000281453:E314V	E	-	2	0	MLF1IP	185859013	0.520000	0.26250	0.734000	0.30879	0.466000	0.32739	4.280000	0.58959	2.059000	0.61396	0.460000	0.39030	GAA		0.373	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360841.2			19	47	0	0	0	0.002299	0	19	47				
CDH12	1010	broad.mit.edu	37	5	22078729	22078729	+	Silent	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr5:22078729G>A	ENST00000382254.1	-	5	1143	c.57C>T	c.(55-57)ctC>ctT	p.L19L	CDH12_ENST00000504376.2_Silent_p.L19L|CDH12_ENST00000522262.1_Silent_p.L19L	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	19					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTGGTGTTAGGAGACCTCCAT	0.453										HNSCC(59;0.17)																													uc010iuc.2		NA																	0				ovary(2)	2						c.(55-57)CTC>CTT		cadherin 12, type 2 preproprotein							176.0	178.0	177.0					5																	22078729		2203	4300	6503	SO:0001819	synonymous_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:22078729G>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.57C>T	5.37:g.22078729G>A		HNSCC(59;0.17)				CDH12_uc011cno.1_Silent_p.L19L|CDH12_uc003jgk.2_Silent_p.L19L	p.L19L	NM_004061	NP_004052	P55289	CAD12_HUMAN			2	515	-			19					B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	c.57C>T	CCDS3890.1																																																																																				0.453	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		33	225	0	0	0	0.002445	0	33	225				
CDH10	1008	broad.mit.edu	37	5	24498613	24498613	+	Missense_Mutation	SNP	G	G	A	rs145457868		TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr5:24498613G>A	ENST00000264463.4	-	9	1916	c.1409C>T	c.(1408-1410)aCa>aTa	p.T470I	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	470	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CACGCGTGTTGTCTCTTTGGG	0.373										HNSCC(23;0.051)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		15550	0.0		0.0	False		,,,				2504	0.0						uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(1408-1410)ACA>ATA		cadherin 10, type 2 preproprotein		G	ILE/THR	3,4403	6.2+/-15.9	0,3,2200	79.0	81.0	80.0		1409	2.2	0.9	5	dbSNP_134	80	0,8600		0,0,4300	no	missense	CDH10	NM_006727.3	89	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	470/789	24498613	3,13003	2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24498613G>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1409C>T	5.37:g.24498613G>A	ENSP00000264463:p.Thr470Ile	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.T470I	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	9	1741	-			470			Cadherin 4.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1409C>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	0.477	-0.881757	0.02530	6.81E-4	0.0	ENSG00000040731	ENST00000264463	T	0.55052	0.54	5.53	2.24	0.28232	Cadherin (4);Cadherin-like (1);	0.283493	0.38959	N	0.001505	T	0.35711	0.0941	L	0.31207	0.915	0.36985	D	0.894516	B	0.02656	0.0	B	0.12837	0.008	T	0.16041	-1.0416	10	0.30854	T	0.27	.	7.5602	0.27847	0.3144:0.0:0.6856:0.0	.	470	Q9Y6N8	CAD10_HUMAN	I	470	ENSP00000264463:T470I	ENSP00000264463:T470I	T	-	2	0	CDH10	24534370	0.996000	0.38824	0.922000	0.36590	0.628000	0.37860	2.320000	0.43797	0.143000	0.18926	0.655000	0.94253	ACA		0.373	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		35	24	0	0	0	0.004289	0	35	24				
ADAMTS12	81792	broad.mit.edu	37	5	33576368	33576368	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr5:33576368G>T	ENST00000504830.1	-	19	4098	c.3763C>A	c.(3763-3765)Cac>Aac	p.H1255N	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.H1170N|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1255	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTGGCTGGTGGTCTCCTCCC	0.527										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3763-3765)CAC>AAC		ADAM metallopeptidase with thrombospondin type 1							162.0	162.0	162.0					5																	33576368		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576368G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3763C>A	5.37:g.33576368G>T	ENSP00000422554:p.His1255Asn	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.H1170N	p.H1255N	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3926	-			1255			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3763C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	0.795	-0.757525	0.03019	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.58060	0.37;0.36	5.42	3.3	0.37823	.	1.097990	0.06830	N	0.793706	T	0.40979	0.1139	L	0.32530	0.975	0.09310	N	1	B;B	0.17038	0.02;0.012	B;B	0.19391	0.025;0.011	T	0.28073	-1.0055	10	0.27785	T	0.31	.	5.9188	0.19070	0.0807:0.2485:0.5501:0.1208	.	1170;1255	P58397-3;P58397	.;ATS12_HUMAN	N	1255;1170	ENSP00000422554:H1255N;ENSP00000344847:H1170N	ENSP00000344847:H1170N	H	-	1	0	ADAMTS12	33612125	0.001000	0.12720	0.007000	0.13788	0.255000	0.26057	0.753000	0.26376	1.285000	0.44548	0.655000	0.94253	CAC		0.527	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		83	85	1	0	9.46827e-25	0.00361	1.82774e-24	83	85				
NNT	23530	broad.mit.edu	37	5	43700243	43700243	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr5:43700243G>T	ENST00000264663.5	+	20	3120	c.2899G>T	c.(2899-2901)Ggc>Tgc	p.G967C	NNT_ENST00000344920.4_Missense_Mutation_p.G967C|NNT_ENST00000512996.2_Missense_Mutation_p.G836C	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	967					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CCCAGTTGCAGGCCGAATGCC	0.458																																							uc003joe.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2899-2901)GGC>TGC		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						193.0	191.0	191.0					5																	43700243		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43700243G>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2899G>T	5.37:g.43700243G>T	ENSP00000264663:p.Gly967Cys					NNT_uc003jof.2_Missense_Mutation_p.G967C	p.G967C	NM_012343	NP_036475	Q13423	NNTM_HUMAN			20	3154	+	Lung NSC(6;2.58e-06)		967			Mitochondrial matrix.|NADP.		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.2899G>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092676	0.94149	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.97041	-4.22;-4.22;-4.22	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.99196	0.9721	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98839	1.0754	10	0.87932	D	0	-10.9527	19.9504	0.97197	0.0:0.0:1.0:0.0	.	967	Q13423	NNTM_HUMAN	C	482;967;967;836	ENSP00000264663:G967C;ENSP00000343873:G967C;ENSP00000426343:G836C	ENSP00000264663:G967C	G	+	1	0	NNT	43736000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.720000	0.93068	0.591000	0.81541	GGC		0.458	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		24	110	1	0	1.17739e-12	0.005443	1.88013e-12	24	110				
SLC38A9	153129	broad.mit.edu	37	5	54968503	54968503	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr5:54968503G>C	ENST00000396865.2	-	4	725	c.134C>G	c.(133-135)aCa>aGa	p.T45R	SLC38A9_ENST00000539768.1_Missense_Mutation_p.T45R|SLC38A9_ENST00000512595.1_Missense_Mutation_p.T18R|SLC38A9_ENST00000515629.1_5'UTR|SLC38A9_ENST00000416547.2_Intron|SLC38A9_ENST00000318672.3_Missense_Mutation_p.T45R	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	45					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				CACGATGTTTGTGGGCTCTAT	0.418																																							uc003jqf.2		NA																	0					0						c.(133-135)ACA>AGA		solute carrier family 38, member 9							110.0	94.0	99.0					5																	54968503		2203	4300	6503	SO:0001583	missense	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54968503G>C		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.134C>G	5.37:g.54968503G>C	ENSP00000380074:p.Thr45Arg					SLC38A9_uc003jqd.2_5'UTR|SLC38A9_uc010ivx.2_Missense_Mutation_p.T18R|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Intron	p.T45R	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN			4	335	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	45					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Missense_Mutation	SNP	ENST00000396865.2	37	c.134C>G	CCDS3968.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407080	0.62399	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000539768;ENST00000512595;ENST00000511233;ENST00000503891;ENST00000513993	T;T;T;T;T	0.44881	1.91;1.91;0.91;1.59;1.49	5.45	5.45	0.79879	.	0.098018	0.64402	D	0.000001	T	0.30759	0.0775	N	0.14661	0.345	0.45035	D	0.998058	B;B	0.13145	0.002;0.007	B;B	0.12837	0.003;0.008	T	0.04678	-1.0934	10	0.30854	T	0.27	-7.9249	19.6439	0.95769	0.0:0.0:1.0:0.0	.	18;45	B3KXV1;Q8NBW4	.;S38A9_HUMAN	R	45;45;45;18;45;45;45	ENSP00000380074:T45R;ENSP00000316596:T45R;ENSP00000437771:T45R;ENSP00000427335:T18R;ENSP00000423219:T45R	ENSP00000316596:T45R	T	-	2	0	SLC38A9	55004260	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.006000	0.49529	2.716000	0.92895	0.650000	0.86243	ACA		0.418	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		3	42	0	0	0	0.004672	0	3	42				
SLCO6A1	133482	broad.mit.edu	37	5	101834498	101834498	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr5:101834498C>A	ENST00000506729.1	-	1	222	c.51G>T	c.(49-51)agG>agT	p.R17S	SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R17S|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R17S|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R17S|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R17S			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GCTCTACTCCCCTTGAGACTT	0.677																																							uc003knn.2		NA																	0				ovary(3)|skin(3)|central_nervous_system(1)	7						c.(49-51)AGG>AGT		solute carrier organic anion transporter family,							76.0	88.0	84.0					5																	101834498		2202	4297	6499	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834498C>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.51G>T	5.37:g.101834498C>A	ENSP00000421339:p.Arg17Ser					SLCO6A1_uc003kno.2_Missense_Mutation_p.R17S|SLCO6A1_uc003knp.2_Missense_Mutation_p.R17S|SLCO6A1_uc003knq.2_Missense_Mutation_p.R17S	p.R17S	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	223	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	17			Cytoplasmic (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.51G>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	1.501	-0.552036	0.03996	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.52057	0.85;0.85;0.79;0.68;0.68	3.21	-6.41	0.01938	.	17.430000	0.00166	N	0.000000	T	0.21227	0.0511	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.18085	-1.0348	10	0.15066	T	0.55	.	2.4652	0.04551	0.1389:0.2876:0.1043:0.4692	.	17;17;17	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	S	17	ENSP00000421339:R17S;ENSP00000369135:R17S;ENSP00000373671:R17S;ENSP00000421990:R17S;ENSP00000369138:R17S	ENSP00000369135:R17S	R	-	3	2	SLCO6A1	101862397	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.371000	0.02573	-2.589000	0.00457	-1.842000	0.00583	AGG		0.677	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		53	84	1	0	2.84144e-21	0.00361	5.28438e-21	53	84				
EPB41L4A	64097	broad.mit.edu	37	5	111595633	111595633	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr5:111595633C>A	ENST00000261486.5	-	8	962	c.686G>T	c.(685-687)gGt>gTt	p.G229V	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	229	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CACAACAACACCAACCGGAGT	0.378																																							uc003kpv.1		NA																	0				ovary(1)	1						c.(685-687)GGT>GTT		erythrocyte protein band 4.1-like 4							158.0	152.0	154.0					5																	111595633		1845	4085	5930	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111595633C>A	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.686G>T	5.37:g.111595633C>A	ENSP00000261486:p.Gly229Val						p.G229V	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	8	960	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	229			FERM.		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.686G>T	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468395	0.84533	.	.	ENSG00000129595	ENST00000261486	D	0.98150	-4.75	5.58	5.58	0.84498	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99020	0.9665	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99581	1.0973	10	0.87932	D	0	.	18.6924	0.91588	0.0:1.0:0.0:0.0	.	229	Q9HCS5	E41LA_HUMAN	V	229	ENSP00000261486:G229V	ENSP00000261486:G229V	G	-	2	0	EPB41L4A	111623532	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	6.106000	0.71511	2.780000	0.95670	0.655000	0.94253	GGT		0.378	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			13	15	1	0	0.00010058	0.001368	0.00013054	13	15				
PCDHA13	56136	broad.mit.edu	37	5	140264024	140264024	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr5:140264024C>T	ENST00000289272.2	+	1	2171	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L	PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S724L|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	724					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			CTGCGGTGCTCGGCACCGCCC	0.657																																					Melanoma(147;1739 1852 5500 27947 37288)	Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2170-2172)TCG>TTG		protocadherin alpha 13 isoform 1 precursor							56.0	57.0	57.0					5																	140264024		2203	4298	6501	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140264024C>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.2171C>T	5.37:g.140264024C>T	ENSP00000289272:p.Ser724Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.S724L|PCDHA13_uc003lid.2_Missense_Mutation_p.S724L	p.S724L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2171	+			724			Cytoplasmic (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.2171C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	1.093	-0.663469	0.03428	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.15139	2.45;2.45	4.08	2.24	0.28232	.	.	.	.	.	T	0.23965	0.0580	M	0.94101	3.495	0.09310	N	1	B;P;B	0.35226	0.439;0.491;0.321	B;B;B	0.32022	0.055;0.055;0.139	T	0.29549	-1.0008	9	0.27082	T	0.32	.	3.3606	0.07185	0.2523:0.4068:0.2572:0.0838	.	724;724;724	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	L	724	ENSP00000386821:S724L;ENSP00000289272:S724L	ENSP00000289272:S724L	S	+	2	0	PCDHA13	140244208	0.616000	0.27035	0.142000	0.22268	0.033000	0.12548	0.878000	0.28126	0.347000	0.23924	0.655000	0.94253	TCG		0.657	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		21	76	0	0	0	0.003954	0	21	76				
PCDHGA4	56111	broad.mit.edu	37	5	140736223	140736223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr5:140736223C>T	ENST00000571252.1	+	1	1456	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	486	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAATGCCCGAATCACTTA	0.507																																							uc003ljq.1		NA																	0					0						c.(1456-1458)CGA>TGA		protocadherin gamma subfamily A, 4 isoform 1							134.0	139.0	137.0					5																	140736223		2094	4250	6344	SO:0001587	stop_gained	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736223C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1456C>T	5.37:g.140736223C>T	ENSP00000458570:p.Arg486*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Nonsense_Mutation_p.R486*	p.R486*	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1456	+			486			Extracellular (Potential).|Cadherin 5.		Q9Y5D3	Nonsense_Mutation	SNP	ENST00000571252.1	37	c.1456C>T	CCDS58979.1																																																																																				0.507	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		37	113	0	0	0	0.004289	0	37	113				
SLC26A2	1836	broad.mit.edu	37	5	149357882	149357882	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr5:149357882A>C	ENST00000286298.4	+	2	935	c.667A>C	c.(667-669)Agc>Cgc	p.S223R		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	223					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TATGGTTGGCAGCACTGTAAC	0.353																																							uc003lrh.2		NA																	0					0						c.(667-669)AGC>CGC		solute carrier family 26 member 2							110.0	107.0	108.0					5																	149357882		2203	4300	6503	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149357882A>C	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.667A>C	5.37:g.149357882A>C	ENSP00000286298:p.Ser223Arg						p.S223R	NM_000112	NP_000103	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	935	+			223			Helical; (Potential).		A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.667A>C	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.842420	0.32513	.	.	ENSG00000155850	ENST00000286298;ENST00000503336	D;D	0.95205	-3.39;-3.64	5.64	1.85	0.25348	.	0.252039	0.46145	D	0.000307	D	0.90686	0.7078	M	0.61703	1.905	0.28706	N	0.903823	B	0.33549	0.417	B	0.37015	0.239	T	0.81955	-0.0696	10	0.25751	T	0.34	.	3.8886	0.09110	0.5634:0.0:0.2837:0.1529	.	223	P50443	S26A2_HUMAN	R	223;114	ENSP00000286298:S223R;ENSP00000426053:S114R	ENSP00000286298:S223R	S	+	1	0	SLC26A2	149338075	0.979000	0.34478	1.000000	0.80357	0.361000	0.29550	1.322000	0.33689	0.972000	0.38314	0.533000	0.62120	AGC		0.353	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		32	26	0	0	0	0.002836	0	32	26				
CSF1R	1436	broad.mit.edu	37	5	149447883	149447883	+	Silent	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr5:149447883C>A	ENST00000286301.3	-	11	1812	c.1521G>T	c.(1519-1521)acG>acT	p.T507T	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	507					cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCGGGGGATGCGTGTGGGCTC	0.597																																							uc003lrl.2		NA																	0				haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54						c.(1519-1521)ACG>ACT		colony stimulating factor 1 receptor precursor	Imatinib(DB00619)|Sunitinib(DB01268)						98.0	86.0	90.0					5																	149447883		2203	4300	6503	SO:0001819	synonymous_variant	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149447883C>A	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1521G>T	5.37:g.149447883C>A						CSF1R_uc011dcd.1_Silent_p.T359T|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Silent_p.T507T	p.T507T	NM_005211	NP_005202	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		10	1716	-			507			Extracellular (Potential).		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Silent	SNP	ENST00000286301.3	37	c.1521G>T	CCDS4302.1																																																																																				0.597	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		9	29	1	0	2.74318e-10	0.006214	4.20437e-10	9	29				
SH3PXD2B	285590	broad.mit.edu	37	5	171765873	171765873	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr5:171765873G>A	ENST00000311601.5	-	13	2406	c.2236C>T	c.(2236-2238)Cct>Tct	p.P746S	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	746	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTTGGAGAGGAACAGGCACG	0.602																																							uc003mbr.2		NA																	0				ovary(3)|skin(1)	4						c.(2236-2238)CCT>TCT		SH3 and PX domains 2B							44.0	48.0	46.0					5																	171765873		2203	4300	6503	SO:0001583	missense	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171765873G>A	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.2236C>T	5.37:g.171765873G>A	ENSP00000309714:p.Pro746Ser						p.P746S	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		13	2407	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	746			Pro-rich.		B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	c.2236C>T	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	G	4.993	0.184337	0.09495	.	.	ENSG00000174705	ENST00000311601	T	0.60424	0.19	5.42	4.52	0.55395	.	0.235162	0.36167	N	0.002758	T	0.33469	0.0864	N	0.19112	0.55	0.34666	D	0.723199	B	0.32918	0.39	B	0.21917	0.037	T	0.42582	-0.9443	9	.	.	.	-8.1462	7.0546	0.25091	0.0874:0.0:0.7404:0.1722	.	746	A1X283	SPD2B_HUMAN	S	746	ENSP00000309714:P746S	.	P	-	1	0	SH3PXD2B	171698478	0.747000	0.28283	0.349000	0.25694	0.032000	0.12392	3.178000	0.50879	2.539000	0.85634	0.561000	0.74099	CCT		0.602	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		14	45	0	0	0	0.001855	0	14	45				
HRH2	3274	broad.mit.edu	37	5	175111128	175111128	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr5:175111128G>A	ENST00000231683.2	+	1	2665	c.892G>A	c.(892-894)Ggg>Agg	p.G298R	HRH2_ENST00000377291.2_Missense_Mutation_p.G298R	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	298					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.G298W(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	CTTCCGCACCGGGTACCAACA	0.567																																							uc003mdd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(892-894)GGG>AGG		histamine receptor H2 isoform 2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						97.0	84.0	88.0					5																	175111128		2203	4300	6503	SO:0001583	missense	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175111128G>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.892G>A	5.37:g.175111128G>A	ENSP00000231683:p.Gly298Arg					HRH2_uc003mdc.3_Missense_Mutation_p.G298R	p.G298R	NM_022304	NP_071640	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2665	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	298			Cytoplasmic (Potential).		B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.892G>A	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443369	0.43429	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.36157	1.27;1.27	5.21	5.21	0.72293	.	0.425026	0.24323	N	0.039529	T	0.19685	0.0473	N	0.08118	0	0.44067	D	0.996817	B;P	0.39940	0.046;0.696	B;B	0.28385	0.056;0.089	T	0.17623	-1.0363	10	0.87932	D	0	.	17.7435	0.88413	0.0:0.0:1.0:0.0	.	298;298	P25021;Q7Z5R9	HRH2_HUMAN;.	R	298	ENSP00000366506:G298R;ENSP00000231683:G298R	ENSP00000231683:G298R	G	+	1	0	HRH2	175043734	1.000000	0.71417	0.027000	0.17364	0.195000	0.23768	9.736000	0.98828	2.442000	0.82660	0.650000	0.86243	GGG		0.567	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			14	27	0	0	0	0.001855	0	14	27				
DSP	1832	broad.mit.edu	37	6	7569537	7569537	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr6:7569537C>A	ENST00000379802.3	+	12	1879	c.1538C>A	c.(1537-1539)cCt>cAt	p.P513H	DSP_ENST00000418664.2_Missense_Mutation_p.P513H	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	513	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.|SH3.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTGATCATCCCTCCTCCGAAC	0.577																																							uc003mxp.1		NA																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(1537-1539)CCT>CAT		desmoplakin isoform I							155.0	128.0	137.0					6																	7569537		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7569537C>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1538C>A	6.37:g.7569537C>A	ENSP00000369129:p.Pro513His					DSP_uc003mxq.1_Missense_Mutation_p.P513H	p.P513H	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	12	1817	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	513			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.1538C>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774805	0.90108	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	D;D	0.83335	-1.71;-1.71	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000018	D	0.91586	0.7342	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92330	0.5873	10	0.87932	D	0	.	19.4895	0.95044	0.0:1.0:0.0:0.0	.	560;513	Q4LE79;P15924	.;DESP_HUMAN	H	513;513;318	ENSP00000369129:P513H;ENSP00000396591:P513H	ENSP00000369129:P513H	P	+	2	0	DSP	7514536	1.000000	0.71417	0.317000	0.25265	0.832000	0.47134	7.818000	0.86416	2.596000	0.87737	0.655000	0.94253	CCT		0.577	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		34	32	1	0	1.36161e-19	0.004289	2.4429e-19	34	32				
DSP	1832	broad.mit.edu	37	6	7580653	7580653	+	Silent	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr6:7580653G>A	ENST00000379802.3	+	23	4571	c.4230G>A	c.(4228-4230)aaG>aaA	p.K1410K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1410	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAGAAATAAAGAGGCTGAAGA	0.502																																							uc003mxp.1		NA																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(4228-4230)AAG>AAA		desmoplakin isoform I							52.0	56.0	55.0					6																	7580653		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7580653G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4230G>A	6.37:g.7580653G>A						DSP_uc003mxq.1_Intron	p.K1410K	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4509	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1410			Central fibrous rod domain.|Potential.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.4230G>A	CCDS4501.1																																																																																				0.502	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		22	27	0	0	0	0.001523	0	22	27				
TFAP2D	83741	broad.mit.edu	37	6	50718983	50718983	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr6:50718983C>A	ENST00000008391.3	+	7	1313	c.1085C>A	c.(1084-1086)tCc>tAc	p.S362Y	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.S362Y(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CTGGGATCCTCCAGACCCACT	0.353																																							uc003paf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(1)	7						c.(1084-1086)TCC>TAC		transcription factor AP-2 beta-like 1							108.0	99.0	102.0					6																	50718983		2203	4299	6502	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50718983C>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1085C>A	6.37:g.50718983C>A	ENSP00000008391:p.Ser362Tyr					TFAP2D_uc011dwt.1_RNA	p.S362Y	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			7	1597	+	Lung NSC(77;0.0334)		362			H-S-H (helix-span-helix), dimerization.			Missense_Mutation	SNP	ENST00000008391.3	37	c.1085C>A	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563084	0.86335	.	.	ENSG00000008197	ENST00000008391	D	0.96913	-4.17	5.48	5.48	0.80851	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96516	0.8863	M	0.71581	2.175	0.80722	D	1	P	0.42078	0.77	P	0.48873	0.593	D	0.97155	0.9834	10	0.87932	D	0	-19.194	19.3519	0.94392	0.0:1.0:0.0:0.0	.	362	Q7Z6R9	AP2D_HUMAN	Y	362	ENSP00000008391:S362Y	ENSP00000008391:S362Y	S	+	2	0	TFAP2D	50826942	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.574000	0.86865	0.484000	0.47621	TCC		0.353	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		8	22	1	0	0.000274275	0.004482	0.000350016	8	22				
FAM83B	222584	broad.mit.edu	37	6	54805349	54805349	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr6:54805349A>G	ENST00000306858.7	+	5	1696	c.1580A>G	c.(1579-1581)gAg>gGg	p.E527G	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	527										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)					GATAATCCTGAGAATTTGAAG	0.398																																							uc003pck.2		NA																	0				ovary(6)	6						c.(1579-1581)GAG>GGG		hypothetical protein LOC222584							111.0	111.0	111.0					6																	54805349		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54805349A>G	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.1580A>G	6.37:g.54805349A>G	ENSP00000304078:p.Glu527Gly						p.E527G	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	1696	+	Lung NSC(77;0.0178)|Renal(3;0.122)		527					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1580A>G	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.487892	0.64074	.	.	ENSG00000168143	ENST00000306858	T	0.35605	1.3	5.66	5.66	0.87406	.	0.238828	0.40554	N	0.001063	T	0.28764	0.0713	M	0.71581	2.175	0.58432	D	0.999993	B	0.29531	0.247	B	0.28139	0.086	T	0.18745	-1.0327	10	0.62326	D	0.03	-16.7155	16.2026	0.82095	1.0:0.0:0.0:0.0	.	527	Q5T0W9	FA83B_HUMAN	G	527	ENSP00000304078:E527G	ENSP00000304078:E527G	E	+	2	0	FAM83B	54913308	1.000000	0.71417	0.831000	0.32960	0.969000	0.65631	4.474000	0.60203	2.285000	0.76669	0.533000	0.62120	GAG		0.398	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		12	36	0	0	0	0.000978	0	12	36				
LCA5	167691	broad.mit.edu	37	6	80223222	80223222	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr6:80223222G>C	ENST00000392959.1	-	4	1038	c.427C>G	c.(427-429)Cag>Gag	p.Q143E	LCA5_ENST00000467898.3_Missense_Mutation_p.Q143E|LCA5_ENST00000369846.4_Missense_Mutation_p.Q143E	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	143					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GCTTTCTCCTGTCTGTACTGA	0.363																																							uc003pix.2		NA																	0					0						c.(427-429)CAG>GAG		Leber congenital amaurosis 5							91.0	87.0	89.0					6																	80223222		2203	4299	6502	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80223222G>C		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.427C>G	6.37:g.80223222G>C	ENSP00000376686:p.Gln143Glu					LCA5_uc003piy.2_Missense_Mutation_p.Q143E|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.Q143E	p.Q143E	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	3	862	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	143			Potential.		E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.427C>G	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261895	0.80358	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	D;D	0.82081	-1.57;-1.57	6.07	6.07	0.98685	.	0.063756	0.64402	D	0.000006	D	0.89770	0.6811	M	0.73217	2.22	0.54753	D	0.999986	D;D	0.71674	0.998;0.997	D;D	0.71184	0.972;0.921	D	0.89441	0.3723	10	0.72032	D	0.01	-6.6567	19.6475	0.95784	0.0:0.0:1.0:0.0	.	143;143	B4DRL2;Q86VQ0	.;LCA5_HUMAN	E	143	ENSP00000358861:Q143E;ENSP00000376686:Q143E	ENSP00000358861:Q143E	Q	-	1	0	LCA5	80279941	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.805000	0.86005	2.885000	0.99019	0.655000	0.94253	CAG		0.363	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		5	57	0	0	0	0.000602	0	5	57				
TTK	7272	broad.mit.edu	37	6	80744812	80744812	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr6:80744812G>C	ENST00000369798.2	+	15	1836	c.1725G>C	c.(1723-1725)ttG>ttC	p.L575F	TTK_ENST00000230510.3_Missense_Mutation_p.L574F|TTK_ENST00000509894.1_Missense_Mutation_p.L574F	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	575	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TAGCTTATTTGAATAAACTAC	0.279																																							uc003pjc.2		NA																	0				ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11						c.(1723-1725)TTG>TTC		TTK protein kinase							77.0	82.0	80.0					6																	80744812		2199	4288	6487	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80744812G>C		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1725G>C	6.37:g.80744812G>C	ENSP00000358813:p.Leu575Phe					TTK_uc003pjb.3_Missense_Mutation_p.L574F	p.L575F	NM_003318	NP_003309	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	15	1799	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	575			Protein kinase.		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.1725G>C	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875495	0.72180	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.80566	-1.39;-1.39;-1.39	5.67	4.79	0.61399	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.204179	0.43260	D	0.000583	D	0.86306	0.5901	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87319	0.2317	10	0.87932	D	0	.	10.4637	0.44594	0.1493:0.0:0.8507:0.0	.	575;574	P33981;A8K8U5	TTK_HUMAN;.	F	574;574;575	ENSP00000422936:L574F;ENSP00000230510:L574F;ENSP00000358813:L575F	ENSP00000230510:L574F	L	+	3	2	TTK	80801531	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.006000	0.40874	2.677000	0.91161	0.557000	0.71058	TTG		0.279	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			15	52	0	0	0	0.00499	0	15	52				
FHL5	9457	broad.mit.edu	37	6	97063586	97063586	+	Silent	SNP	C	C	T	rs566257304		TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr6:97063586C>T	ENST00000326771.2	+	7	1173	c.793C>T	c.(793-795)Ctg>Ttg	p.L265L	FHL5_ENST00000541107.1_Silent_p.L265L	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	265	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TAAAGGCTTCCTGACCCAGAA	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		18249	0.001		0.0	False		,,,				2504	0.0						uc003pos.1		NA																	0				ovary(2)	2						c.(793-795)CTG>TTG		activator of cAMP-responsive element modulator							100.0	96.0	98.0					6																	97063586		2203	4300	6503	SO:0001819	synonymous_variant	9457					nucleus	zinc ion binding	g.chr6:97063586C>T	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.793C>T	6.37:g.97063586C>T						FHL5_uc003pot.1_Silent_p.L265L	p.L265L	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	7	1198	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	265			LIM zinc-binding 4.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Silent	SNP	ENST00000326771.2	37	c.793C>T	CCDS5035.1																																																																																				0.483	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		12	40	0	0	0	0.00245	0	12	40				
NR2E1	7101	broad.mit.edu	37	6	108502054	108502054	+	Silent	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr6:108502054C>A	ENST00000368986.4	+	7	1491	c.783C>A	c.(781-783)atC>atA	p.I261I	NR2E1_ENST00000368983.3_Silent_p.I298I	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	261	Ligand-binding. {ECO:0000250}.				aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TGAACAAGATCATATCTGAAA	0.373																																							uc003psg.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(781-783)ATC>ATA		nuclear receptor subfamily 2, group E, member 1							126.0	116.0	120.0					6																	108502054		2203	4300	6503	SO:0001819	synonymous_variant	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108502054C>A	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.783C>A	6.37:g.108502054C>A							p.I261I	NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	7	1538	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	261			Ligand-binding (By similarity).		Q6ZMP8	Silent	SNP	ENST00000368986.4	37	c.783C>A	CCDS5063.1																																																																																				0.373	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			24	77	1	0	1.96895e-08	0.00278	2.84611e-08	24	77				
ZBTB24	9841	broad.mit.edu	37	6	109787215	109787215	+	Silent	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr6:109787215G>A	ENST00000230122.3	-	7	2100	c.1933C>T	c.(1933-1935)Ctg>Ttg	p.L645L	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	645					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		AGATGTTCCAGTGTTTCCTTG	0.502																																							uc003ptl.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1933-1935)CTG>TTG		zinc finger and BTB domain containing 24 isoform							145.0	136.0	139.0					6																	109787215		2203	4300	6503	SO:0001819	synonymous_variant	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109787215G>A	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1933C>T	6.37:g.109787215G>A						MICAL1_uc011eaq.1_5'Flank|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Silent_p.L589L|ZBTB24_uc010kdt.1_RNA	p.L645L	NM_014797	NP_055612	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	7	2101	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	645					Q17RC6|Q5TED5|Q8N455	Silent	SNP	ENST00000230122.3	37	c.1933C>T	CCDS34509.1																																																																																				0.502	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		30	36	0	0	0	0.002096	0	30	36				
FYN	2534	broad.mit.edu	37	6	111983047	111983047	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr6:111983047C>A	ENST00000354650.3	-	14	2115	c.1509G>T	c.(1507-1509)tgG>tgT	p.W503C	FYN_ENST00000368667.2_Missense_Mutation_p.W503C|FYN_ENST00000356013.2_Missense_Mutation_p.W448C|FYN_ENST00000538466.1_Missense_Mutation_p.W500C|FYN_ENST00000229470.5_Missense_Mutation_p.W451C|FYN_ENST00000229471.4_Missense_Mutation_p.W448C|FYN_ENST00000368682.3_Missense_Mutation_p.W500C|FYN_ENST00000368678.4_Missense_Mutation_p.W500C	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	503	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|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)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GGTCCTTTTTCCAGCAGTGGA	0.567																																							uc003pvj.2		NA																	0				lung(5)|central_nervous_system(1)|skin(1)	7						c.(1507-1509)TGG>TGT		protein-tyrosine kinase fyn isoform a	Dasatinib(DB01254)						149.0	154.0	153.0					6																	111983047		2203	4300	6503	SO:0001583	missense	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:111983047C>A	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1509G>T	6.37:g.111983047C>A	ENSP00000346671:p.Trp503Cys					FYN_uc003pvi.2_Missense_Mutation_p.W448C|FYN_uc003pvk.2_Missense_Mutation_p.W503C|FYN_uc003pvh.2_Missense_Mutation_p.W500C	p.W503C	NM_002037	NP_002028	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	13	1849	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	503			Protein kinase.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.1509G>T	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562036	0.65538	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792	D;D;D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.68	5.68	0.88126	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94221	0.8145	M	0.87758	2.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94462	0.7677	10	0.87932	D	0	.	19.7888	0.96450	0.0:1.0:0.0:0.0	.	503;448;500	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	C	500;503;448;503;500;451;448;500;451	ENSP00000357671:W500C;ENSP00000346671:W503C;ENSP00000229471:W448C;ENSP00000357656:W503C;ENSP00000357667:W500C;ENSP00000229470:W451C;ENSP00000348295:W448C;ENSP00000440646:W500C	ENSP00000229470:W451C	W	-	3	0	FYN	112089740	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.683000	0.91414	0.455000	0.32223	TGG		0.567	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			59	89	1	0	1.80625e-27	0.00361	3.57732e-27	59	89				
TAAR8	83551	broad.mit.edu	37	6	132874309	132874309	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr6:132874309C>T	ENST00000275200.1	+	1	478	c.478C>T	c.(478-480)Ctc>Ttc	p.L160F		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	160					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		GATTCTGCCTCTCACGTACAG	0.493																																							uc011ecj.1		NA																	0				ovary(1)	1						c.(478-480)CTC>TTC		trace amine associated receptor 8							318.0	299.0	305.0					6																	132874309		2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874309C>T	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.478C>T	6.37:g.132874309C>T	ENSP00000275200:p.Leu160Phe						p.L160F	NM_053278	NP_444508	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	478	+	Breast(56;0.112)		160			Helical; Name=4; (Potential).		Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.478C>T	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	C	4.494	0.091674	0.08632	.	.	ENSG00000146385	ENST00000275200	T	0.38887	1.11	4.72	-9.43	0.00607	GPCR, rhodopsin-like superfamily (1);	1.502820	0.04474	N	0.376532	T	0.09113	0.0225	L	0.37507	1.11	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.06698	-1.0812	10	0.19590	T	0.45	-0.1668	7.087	0.25264	0.5541:0.1035:0.2774:0.065	.	160	Q969N4	TAAR8_HUMAN	F	160	ENSP00000275200:L160F	ENSP00000275200:L160F	L	+	1	0	TAAR8	132916002	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-6.855000	0.00051	-2.198000	0.00749	-0.169000	0.13324	CTC		0.493	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		108	119	0	0	0	0.00361	0	108	119				
TIAM2	26230	broad.mit.edu	37	6	155465783	155465784	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr6:155465783_155465784GG>TT	ENST00000461783.3	+	8	2947_2948	c.1674_1675GG>TT	c.(1672-1677)atGGat>atTTat	p.558_559MD>IY	TIAM2_ENST00000529824.2_Missense_Mutation_p.558_559MD>IY|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.558_559MD>IY|TIAM2_ENST00000360366.4_Missense_Mutation_p.558_559MD>IY|TIAM2_ENST00000318981.5_Missense_Mutation_p.558_559MD>IY			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	558	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGAATTCCATGGATCAGAGCAG	0.485																																							uc003qqb.2		NA																	0				ovary(3)|breast(1)	4						c.(1672-1677)ATGGAT>ATTTAT		T-cell lymphoma invasion and metastasis 2																																				SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155465783_155465784GG>TT		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	Exception_encountered	6.37:g.155465783_155465784delinsTT	ENSP00000437188:p.M558_D559delinsIY					TIAM2_uc003qqe.2_Missense_Mutation_p.558_559MD>IY|TIAM2_uc010kjj.2_Missense_Mutation_p.91_92MD>IY	p.558_559MD>IY	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	8	2947_2948	+		Ovarian(120;0.196)	558_559			PH 1.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	DNP	ENST00000461783.3	37	c.1674_1675GG>TT	CCDS34558.1																																																																																				0.485	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		29	41	0	0	0	0.004672	0	29	41				
ARID1B	57492	broad.mit.edu	37	6	157521999	157521999	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr6:157521999C>T	ENST00000350026.5	+	17	4233	c.4232C>T	c.(4231-4233)cCg>cTg	p.P1411L	ARID1B_ENST00000367148.1_Missense_Mutation_p.P1464L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1406L|ARID1B_ENST00000346085.5_Missense_Mutation_p.P1424L	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1411			P -> S. {ECO:0000269|PubMed:22405089}.		chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCCAGTACCCGTATCCCTAC	0.627																																							uc003qqn.2		NA																	0				ovary(1)|breast(1)	2						c.(4216-4218)CCG>CTG		AT rich interactive domain 1B (SWI1-like)							36.0	42.0	40.0					6																	157521999		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157521999C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4232C>T	6.37:g.157521999C>T	ENSP00000055163:p.Pro1411Leu					ARID1B_uc003qqo.2_Missense_Mutation_p.P1366L|ARID1B_uc003qqp.2_Missense_Mutation_p.P1353L	p.P1406L	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4369	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1411					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.4217C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371310	0.42003	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.03124	4.32;4.35;4.3;4.31;4.04	4.97	4.97	0.65823	.	0.052565	0.85682	D	0.000000	T	0.07954	0.0199	M	0.64404	1.975	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	P;P;P	0.55011	0.588;0.766;0.766	T	0.06607	-1.0817	10	0.87932	D	0	.	18.6084	0.91275	0.0:1.0:0.0:0.0	.	1411;1424;1406	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	L	1424;1411;1464;1406;933	ENSP00000344546:P1424L;ENSP00000055163:P1411L;ENSP00000356116:P1464L;ENSP00000275248:P1406L;ENSP00000412835:P933L	ENSP00000275248:P1406L	P	+	2	0	ARID1B	157563691	1.000000	0.71417	0.280000	0.24747	0.301000	0.27625	7.445000	0.80570	2.468000	0.83385	0.591000	0.81541	CCG		0.627	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		4	33	0	0	0	0.000602	0	4	33				
CYCS	54205	broad.mit.edu	37	7	25163735	25163735	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr7:25163735C>G	ENST00000305786.2	-	2	173	c.4G>C	c.(4-6)Ggt>Cgt	p.G2R	CYCS_ENST00000409409.1_Missense_Mutation_p.G2R|CYCS_ENST00000409764.1_Missense_Mutation_p.G2R	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN	cytochrome c, somatic	2					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|dephosphorylation (GO:0016311)|intrinsic apoptotic signaling pathway (GO:0097193)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Minocycline(DB01017)	TCAACATCACCCATATTTAAT	0.383																																							uc003sxl.2		NA																	0				ovary(1)|lung(1)	2						c.(4-6)GGT>CGT		cytochrome c	Melatonin(DB01065)|Minocycline(DB01017)						26.0	29.0	28.0					7																	25163735		2200	4294	6494	SO:0001583	missense	54205				activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding	g.chr7:25163735C>G	M22877	CCDS5393.1	7p21.2	2014-09-17			ENSG00000172115	ENSG00000172115			19986	protein-coding gene	gene with protein product		123970				11790791	Standard	NM_018947		Approved	HCS, CYC	uc003sxl.3	P99999	OTTHUMG00000128495	ENST00000305786.2:c.4G>C	7.37:g.25163735C>G	ENSP00000307786:p.Gly2Arg						p.G2R	NM_018947	NP_061820	P99999	CYC_HUMAN			2	149	-			2					A4D166|B2R4I1|P00001|Q6NUR2|Q6NX69|Q96BV4	Missense_Mutation	SNP	ENST00000305786.2	37	c.4G>C	CCDS5393.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061018	0.93846	.	.	ENSG00000172115	ENST00000305786;ENST00000409409;ENST00000409764;ENST00000413447	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	4.83	4.83	0.62350	Cytochrome c domain (3);	0.157953	0.39909	U	0.001228	D	0.87625	0.6224	H	0.95079	3.62	0.80722	D	1	D	0.67145	0.996	P	0.59761	0.863	D	0.91831	0.5475	10	0.87932	D	0	.	18.3017	0.90165	0.0:1.0:0.0:0.0	.	2	P99999	CYC_HUMAN	R	2	ENSP00000307786:G2R;ENSP00000386270:G2R;ENSP00000387279:G2R;ENSP00000416479:G2R	ENSP00000307786:G2R	G	-	1	0	CYCS	25130260	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.763000	0.62257	2.376000	0.81061	0.650000	0.86243	GGT		0.383	CYCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250299.2			5	41	0	0	0	0.001168	0	5	41				
MAGI2	9863	broad.mit.edu	37	7	77824308	77824308	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr7:77824308G>A	ENST00000354212.4	-	12	2405	c.2152C>T	c.(2152-2154)Ccc>Tcc	p.P718S	MAGI2_ENST00000419488.1_Missense_Mutation_p.P718S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P718S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	718					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGTGGGAAGGGCAGGTTCTGC	0.517																																							uc003ugx.2		NA																	0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(2152-2154)CCC>TCC		membrane associated guanylate kinase, WW and PDZ							153.0	154.0	153.0					7																	77824308		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77824308G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2152C>T	7.37:g.77824308G>A	ENSP00000346151:p.Pro718Ser					MAGI2_uc003ugy.2_Missense_Mutation_p.P718S|MAGI2_uc010ldx.1_Missense_Mutation_p.P327S|MAGI2_uc010ldy.1_Missense_Mutation_p.P327S	p.P718S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			12	2406	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	718					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2152C>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502226	0.85176	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.12774	2.71;2.72;2.65	5.82	5.82	0.92795	.	0.000000	0.36482	U	0.002563	T	0.37839	0.1018	M	0.68317	2.08	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;P	0.83275	0.996;0.996;0.994;0.852	T	0.00964	-1.1498	10	0.27082	T	0.32	.	20.091	0.97817	0.0:0.0:1.0:0.0	.	718;718;718;718	B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	S	718	ENSP00000405766:P718S;ENSP00000346151:P718S;ENSP00000428389:P718S	ENSP00000346151:P718S	P	-	1	0	MAGI2	77662244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.540000	0.82074	2.755000	0.94549	0.591000	0.81541	CCC		0.517	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		24	44	0	0	0	0.00278	0	24	44				
CACNA2D1	781	broad.mit.edu	37	7	81593561	81593561	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr7:81593561C>A	ENST00000356253.5	-	33	2980	c.2725G>T	c.(2725-2727)Gca>Tca	p.A909S	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.A897S|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.A109S			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	909					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TGTTTTGGTGCAGCACCGGGC	0.423																																							uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.(2689-2691)GCA>TCA		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						117.0	116.0	116.0					7																	81593561		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81593561C>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2725G>T	7.37:g.81593561C>A	ENSP00000348589:p.Ala909Ser					CACNA2D1_uc011kgy.1_Missense_Mutation_p.A109S	p.A897S	NM_000722	NP_000713	P54289	CA2D1_HUMAN			33	2945	-			909			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2689G>T		.	.	.	.	.	.	.	.	.	.	C	5.630	0.300891	0.10678	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.69926	-0.44;-0.44;-0.44	5.46	2.7	0.31948	.	0.221345	0.47093	D	0.000246	T	0.46946	0.1419	N	0.19112	0.55	0.34416	D	0.696976	B;B	0.11235	0.004;0.0	B;B	0.11329	0.006;0.001	T	0.45585	-0.9251	10	0.13853	T	0.58	-7.3376	11.1936	0.48700	0.0:0.8062:0.0:0.1938	.	109;897	B7Z658;P54289-2	.;.	S	897;916;909;109	ENSP00000349320:A897S;ENSP00000348589:A909S;ENSP00000443124:A109S	ENSP00000284088:A916S	A	-	1	0	CACNA2D1	81431497	0.984000	0.35163	0.594000	0.28785	0.319000	0.28217	2.191000	0.42640	0.382000	0.24878	0.644000	0.83932	GCA		0.423	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				33	39	1	0	1.58521e-26	0.005524	3.11928e-26	33	39				
LAMB4	22798	broad.mit.edu	37	7	107746332	107746332	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr7:107746332C>A	ENST00000388781.3	-	8	883	c.800G>T	c.(799-801)tGc>tTc	p.C267F	LAMB4_ENST00000418464.1_Missense_Mutation_p.C267F|LAMB4_ENST00000388780.3_Missense_Mutation_p.C267F|LAMB4_ENST00000205386.4_Missense_Mutation_p.C267F|LAMB4_ENST00000414450.2_Missense_Mutation_p.C267F	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	267	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATGGCCATTGCAAAAGCAGCT	0.478																																							uc010ljo.1		NA																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(799-801)TGC>TTC		laminin, beta 4 precursor							127.0	110.0	116.0					7																	107746332		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107746332C>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.800G>T	7.37:g.107746332C>A	ENSP00000373433:p.Cys267Phe					LAMB4_uc003vey.2_Missense_Mutation_p.C267F	p.C267F	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			8	884	-			267			Laminin EGF-like 1.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.800G>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140474	0.77775	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	D;D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4;-3.4	4.78	3.9	0.45041	EGF-like, laminin (3);	0.000000	0.53938	D	0.000042	D	0.97845	0.9292	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98433	1.0583	10	0.87932	D	0	.	12.854	0.57873	0.0:0.9214:0.0:0.0786	.	267	A4D0S4	LAMB4_HUMAN	F	267	ENSP00000205386:C267F;ENSP00000373433:C267F;ENSP00000373432:C267F;ENSP00000402353:C267F;ENSP00000402265:C267F	ENSP00000205386:C267F	C	-	2	0	LAMB4	107533568	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.294000	0.65687	1.229000	0.43630	0.655000	0.94253	TGC		0.478	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		25	33	1	0	5.45727e-16	0.008361	9.24704e-16	25	33				
IQUB	154865	broad.mit.edu	37	7	123152037	123152037	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr7:123152037C>A	ENST00000466202.1	-	2	934	c.358G>T	c.(358-360)Gaa>Taa	p.E120*	IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Nonsense_Mutation_p.E120*|IQUB_ENST00000434450.1_Nonsense_Mutation_p.E120*	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	120					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGCAAAGATTCCTTTACAGAC	0.353																																							uc003vkn.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(358-360)GAA>TAA		IQ motif and ubiquitin domain containing							78.0	76.0	77.0					7																	123152037		2202	4300	6502	SO:0001587	stop_gained	154865							g.chr7:123152037C>A	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.358G>T	7.37:g.123152037C>A	ENSP00000417769:p.Glu120*					IQUB_uc003vko.2_Nonsense_Mutation_p.E120*|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Nonsense_Mutation_p.E120*|IQUB_uc003vkq.2_Nonsense_Mutation_p.E120*	p.E120*	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			2	935	-			120					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Nonsense_Mutation	SNP	ENST00000466202.1	37	c.358G>T	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273437	0.40194	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	.	.	.	5.41	1.54	0.23209	.	0.706780	0.12662	N	0.449554	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	2.0073	0.03480	0.1634:0.5071:0.158:0.1715	.	.	.	.	X	120	.	ENSP00000324882:E120X	E	-	1	0	IQUB	122939273	0.003000	0.15002	0.000000	0.03702	0.008000	0.06430	0.479000	0.22228	0.111000	0.17947	-0.182000	0.12963	GAA		0.353	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		13	24	1	0	3.27435e-08	0.00245	4.64501e-08	13	24				
DGKI	9162	broad.mit.edu	37	7	137092687	137092687	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr7:137092687A>T	ENST00000288490.5	-	31	2878	c.2878T>A	c.(2878-2880)Tgt>Agt	p.C960S	DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.C942S|DGKI_ENST00000424189.2_Missense_Mutation_p.C973S|DGKI_ENST00000453654.2_Missense_Mutation_p.C629S	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	960					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGGAGTGAACAGTGGTCTGGT	0.443																																							uc003vtt.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(2878-2880)TGT>AGT		diacylglycerol kinase, iota							206.0	179.0	188.0					7																	137092687		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137092687A>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2878T>A	7.37:g.137092687A>T	ENSP00000288490:p.Cys960Ser					DGKI_uc003vtu.2_Missense_Mutation_p.C629S	p.C960S	NM_004717	NP_004708	O75912	DGKI_HUMAN			31	2879	-			960			ANK 1.		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.2878T>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.802398	0.31869	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.32515	1.45;1.45;1.45	5.7	5.7	0.88788	Ankyrin repeat-containing domain (3);	0.046469	0.85682	D	0.000000	T	0.21347	0.0514	N	0.25825	0.765	0.46701	D	0.999165	B;B	0.24258	0.006;0.1	B;B	0.23150	0.004;0.044	T	0.08106	-1.0738	10	0.21014	T	0.42	.	11.8031	0.52139	0.8543:0.1457:0.0:0.0	.	629;960	E9PFX6;O75912	.;DGKI_HUMAN	S	629;877;963;960;942	ENSP00000392161:C629S;ENSP00000288490:C960S;ENSP00000399131:C942S	ENSP00000288490:C960S	C	-	1	0	DGKI	136743227	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.331000	0.59273	2.168000	0.68352	0.533000	0.62120	TGT		0.443	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		35	56	0	0	0	0.003755	0	35	56				
KEL	3792	broad.mit.edu	37	7	142651424	142651424	+	Silent	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr7:142651424C>A	ENST00000355265.2	-	8	1245	c.771G>T	c.(769-771)ctG>ctT	p.L257L	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	257					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCAAGGTTCCCAGCTGATTCA	0.542																																							uc003wcb.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(769-771)CTG>CTT		Kell blood group, metallo-endopeptidase							107.0	109.0	108.0					7																	142651424		2203	4300	6503	SO:0001819	synonymous_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142651424C>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.771G>T	7.37:g.142651424C>A							p.L257L	NM_000420	NP_000411	P23276	KELL_HUMAN			8	981	-	Melanoma(164;0.059)		257			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	c.771G>T	CCDS34766.1																																																																																				0.542	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		25	61	1	0	2.79863e-10	0.004656	4.26791e-10	25	61				
CNTNAP2	26047	broad.mit.edu	37	7	146997300	146997300	+	Silent	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr7:146997300C>T	ENST00000361727.3	+	9	1932	c.1416C>T	c.(1414-1416)ctC>ctT	p.L472L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	472	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTGCTATTCTCACCATCGATG	0.413										HNSCC(39;0.1)																													uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1414-1416)CTC>CTT		cell recognition molecule Caspr2 precursor							163.0	149.0	154.0					7																	146997300		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146997300C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1416C>T	7.37:g.146997300C>T		HNSCC(39;0.1)					p.L472L	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		9	1932	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	472			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.1416C>T	CCDS5889.1																																																																																				0.413	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			10	48	0	0	0	0.008291	0	10	48				
GIMAP6	474344	broad.mit.edu	37	7	150324854	150324854	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr7:150324854C>T	ENST00000328902.5	-	3	1048	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	278						cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTCAGATTCCTTCTGGATC	0.572																																							uc003whn.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(832-834)GAA>AAA		GTPase, IMAP family member 6							90.0	76.0	81.0					7																	150324854		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150324854C>T	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.832G>A	7.37:g.150324854C>T	ENSP00000330374:p.Glu278Lys					GIMAP6_uc003whm.2_Missense_Mutation_p.E198K	p.E278K	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1256	-			278					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.832G>A	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.186331	0.57909	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.05996	3.36	3.72	3.72	0.42706	.	0.585161	0.16869	N	0.196205	T	0.05227	0.0139	N	0.24115	0.695	0.80722	D	1	B;B	0.28998	0.097;0.23	B;B	0.32677	0.042;0.15	T	0.46911	-0.9157	10	0.17832	T	0.49	.	11.1686	0.48558	0.0:1.0:0.0:0.0	.	278;198	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	K	278;339	ENSP00000330374:E278K	ENSP00000330374:E278K	E	-	1	0	GIMAP6	149955787	0.058000	0.20735	0.855000	0.33649	0.367000	0.29736	0.545000	0.23268	2.084000	0.62774	0.655000	0.94253	GAA		0.572	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		16	62	0	0	0	0.004007	0	16	62				
KCNH2	3757	broad.mit.edu	37	7	150647303	150647303	+	Missense_Mutation	SNP	C	C	A	rs149588350		TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr7:150647303C>A	ENST00000262186.5	-	9	2752	c.2351G>T	c.(2350-2352)cGg>cTg	p.R784L	KCNH2_ENST00000430723.3_Missense_Mutation_p.R784L|KCNH2_ENST00000330883.4_Missense_Mutation_p.R444L|KCNH2_ENST00000392968.2_Missense_Mutation_p.R688L	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	784			R -> W (predisposes to LQT2 and torsades de pointes while taking the drug amiodarone; in vitro studies confirmed a significant reduction in potassium currents; the ECG abnormalities reversed on drug withdrawal). {ECO:0000269|PubMed:11997281, ECO:0000269|PubMed:15840476}.		cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GATGGAGCCCCGGGAGATGAA	0.647																																					GBM(137;110 1844 13671 20123 45161)	GBM(137;110 1844 13671 20123 45161)	uc003wic.2		NA																	0				skin(3)|ovary(1)	4						c.(2350-2352)CGG>CTG		voltage-gated potassium channel, subfamily H,	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						77.0	65.0	69.0					7																	150647303		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150647303C>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2351G>T	7.37:g.150647303C>A	ENSP00000262186:p.Arg784Leu					KCNH2_uc003wib.2_Missense_Mutation_p.R444L|KCNH2_uc011kux.1_Missense_Mutation_p.R688L|KCNH2_uc003wid.2_Missense_Mutation_p.R444L|KCNH2_uc003wie.2_Missense_Mutation_p.R784L	p.R784L	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	9	2364	-	all_neural(206;0.219)		784		R -> W (predisposes to LQT2 and torsades de pointes while taking the drug amiodarone; in vitro studies confirmed a significant reduction in potassium currents; the ECG abnormalities reversed on drug withdrawal).	Cytoplasmic (Potential).|cNMP.		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.2351G>T	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	35	5.447147	0.96205	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000430723	D;D;D;D	0.96885	-3.12;-3.12;-3.12;-4.16	4.84	4.84	0.62591	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.92833	3.35	0.54753	D	0.999987	D;D;D;D;D	0.89917	0.999;1.0;0.994;0.999;0.987	D;D;D;D;D	0.81914	0.992;0.995;0.917;0.989;0.931	D	0.99663	1.0994	10	0.87932	D	0	.	15.4653	0.75394	0.0:1.0:0.0:0.0	.	688;784;444;784;444	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	L	444;688;784;784	ENSP00000328531:R444L;ENSP00000376695:R688L;ENSP00000262186:R784L;ENSP00000387657:R784L	ENSP00000262186:R784L	R	-	2	0	KCNH2	150278236	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.813000	0.86123	2.236000	0.73375	0.305000	0.20034	CGG		0.647	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		28	57	1	0	3.73148e-12	0.007291	5.8665e-12	28	57				
RNF32	140545	broad.mit.edu	37	7	156450897	156450897	+	Silent	SNP	C	C	A	rs149366944		TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr7:156450897C>A	ENST00000405335.1	+	7	935	c.526C>A	c.(526-528)Cga>Aga	p.R176R	RNF32_ENST00000311822.8_Silent_p.R176R|RNF32_ENST00000343665.4_Silent_p.R152R|RNF32_ENST00000432459.2_Silent_p.R176R|RNF32_ENST00000392743.2_Silent_p.R176R|RNF32_ENST00000392741.2_Silent_p.R176R|RNF32_ENST00000480011.1_3'UTR|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000317955.5_Silent_p.R176R			Q9H0A6	RNF32_HUMAN	ring finger protein 32	176						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GTATCAAACCCGAGTGATACA	0.463																																							uc003wmo.2		NA																	0					0						c.(526-528)CGA>AGA		ring finger protein 32							55.0	60.0	58.0					7																	156450897		2203	4300	6503	SO:0001819	synonymous_variant	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156450897C>A		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.526C>A	7.37:g.156450897C>A						RNF32_uc010lql.1_RNA|RNF32_uc010lqm.2_Silent_p.R176R|RNF32_uc003wmq.2_Silent_p.R176R|RNF32_uc003wmr.2_Silent_p.R176R|RNF32_uc003wms.2_Silent_p.R176R|RNF32_uc003wmu.2_RNA|RNF32_uc003wmt.2_Silent_p.R176R	p.R176R	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	6	708	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	176					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Silent	SNP	ENST00000405335.1	37	c.526C>A	CCDS5944.1																																																																																				0.463	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		22	29	1	0	1.55795e-14	0.001882	2.58246e-14	22	29				
CHRNB3	1142	broad.mit.edu	37	8	42587121	42587121	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr8:42587121C>A	ENST00000289957.2	+	5	799	c.671C>A	c.(670-672)aCg>aAg	p.T224K		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	224					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	CCCTTTATCACGTATTCCTTC	0.468																																							uc003xpi.1		NA																	0				ovary(1)	1						c.(670-672)ACG>AAG		cholinergic receptor, nicotinic, beta							97.0	98.0	98.0					8																	42587121		2203	4300	6503	SO:0001583	missense	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42587121C>A	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.671C>A	8.37:g.42587121C>A	ENSP00000289957:p.Thr224Lys						p.T224K	NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	799	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	224			Extracellular (Potential).		Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	c.671C>A	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	c	15.81	2.943183	0.53079	.	.	ENSG00000147432	ENST00000289957	T	0.79554	-1.28	5.46	4.56	0.56223	Neurotransmitter-gated ion-channel ligand-binding (3);	0.091128	0.85682	D	0.000000	D	0.89143	0.6631	M	0.80746	2.51	0.80722	D	1	D	0.61697	0.99	D	0.63488	0.915	D	0.90816	0.4705	10	0.87932	D	0	.	16.1466	0.81577	0.0:0.866:0.134:0.0	.	224	Q05901	ACHB3_HUMAN	K	224	ENSP00000289957:T224K	ENSP00000289957:T224K	T	+	2	0	CHRNB3	42706278	1.000000	0.71417	0.013000	0.15412	0.016000	0.09150	6.094000	0.71431	1.279000	0.44446	0.558000	0.71614	ACG		0.468	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			20	34	1	0	4.96729e-08	0.008871	6.98167e-08	20	34				
CHRNA6	8973	broad.mit.edu	37	8	42611537	42611537	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr8:42611537C>T	ENST00000276410.2	-	5	1160	c.805G>A	c.(805-807)Ggt>Agt	p.G269S	CHRNA6_ENST00000534622.1_Missense_Mutation_p.G254S|CHRNA6_ENST00000530869.1_5'Flank	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	269					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	ACTTTTTCACCACAGTCCGAA	0.423																																							uc003xpj.2		NA																	0					0						c.(805-807)GGT>AGT		cholinergic receptor, nicotinic, alpha 6							103.0	93.0	97.0					8																	42611537		2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611537C>T	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.805G>A	8.37:g.42611537C>T	ENSP00000276410:p.Gly269Ser					CHRNA6_uc011lcw.1_Missense_Mutation_p.G254S	p.G269S	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	851	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	269					B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.805G>A	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535911	0.85812	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	D;D	0.88975	-2.45;-2.45	5.97	5.1	0.69264	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.045743	0.85682	D	0.000000	D	0.95648	0.8585	M	0.92219	3.285	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.77004	0.989;0.989	D	0.96608	0.9450	10	0.87932	D	0	.	15.3654	0.74516	0.0:0.9331:0.0:0.0668	.	254;269	B4DQH1;Q15825	.;ACHA6_HUMAN	S	269;254	ENSP00000276410:G269S;ENSP00000433871:G254S	ENSP00000276410:G269S	G	-	1	0	CHRNA6	42730694	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.747000	0.85070	1.531000	0.49152	-0.150000	0.13652	GGT		0.423	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			19	31	0	0	0	0.006122	0	19	31				
KCNB2	9312	broad.mit.edu	37	8	73480446	73480446	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr8:73480446G>T	ENST00000523207.1	+	2	1065	c.477G>T	c.(475-477)atG>atT	p.M159I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	159					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CAGAGACTATGCGAGAGCGAG	0.468																																							uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(475-477)ATG>ATT		potassium voltage-gated channel, Shab-related							134.0	141.0	139.0					8																	73480446		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480446G>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.477G>T	8.37:g.73480446G>T	ENSP00000430846:p.Met159Ile						p.M159I	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1065	+	Breast(64;0.137)		159			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.477G>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.661805	0.29515	.	.	ENSG00000182674	ENST00000523207	D	0.96491	-4.03	6.07	6.07	0.98685	.	0.000000	0.40469	U	0.001097	D	0.89546	0.6746	N	0.04090	-0.28	0.40543	D	0.981046	B	0.06786	0.001	B	0.08055	0.003	D	0.85085	0.0948	10	0.28530	T	0.3	.	13.4808	0.61334	0.0717:0.0:0.9283:0.0	.	159	Q92953	KCNB2_HUMAN	I	159	ENSP00000430846:M159I	ENSP00000430846:M159I	M	+	3	0	KCNB2	73643000	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	4.714000	0.61902	2.885000	0.99019	0.655000	0.94253	ATG		0.468	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		39	56	1	0	2.35958e-20	0.002222	4.28377e-20	39	56				
CRISPLD1	83690	broad.mit.edu	37	8	75924769	75924769	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr8:75924769G>T	ENST00000262207.4	+	3	828	c.360G>T	c.(358-360)ttG>ttT	p.L120F	CRISPLD1_ENST00000517786.1_5'UTR|CRISPLD1_ENST00000519798.1_3'UTR|CRISPLD1_ENST00000523524.1_5'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	120	SCP.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GACAGAATTTGGGAGCACACT	0.388																																							uc003yan.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(358-360)TTG>TTT		cysteine-rich secretory protein LCCL domain							129.0	119.0	122.0					8																	75924769		2203	4299	6502	SO:0001583	missense	83690					extracellular region		g.chr8:75924769G>T	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.360G>T	8.37:g.75924769G>T	ENSP00000262207:p.Leu120Phe					CRISPLD1_uc011lfk.1_5'UTR|CRISPLD1_uc011lfl.1_5'UTR	p.L120F	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		3	735	+	Breast(64;0.0799)		120					B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	c.360G>T	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452416	0.63290	.	.	ENSG00000121005	ENST00000262207	T	0.13307	2.6	5.26	4.38	0.52667	CAP domain (3);	0.000000	0.64402	D	0.000001	T	0.51244	0.1663	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69015	-0.5257	10	0.87932	D	0	.	13.8294	0.63370	0.0733:0.0:0.9267:0.0	.	120	Q9H336	CRLD1_HUMAN	F	120	ENSP00000262207:L120F	ENSP00000262207:L120F	L	+	3	2	CRISPLD1	76087324	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.705000	0.37867	1.451000	0.47736	0.557000	0.71058	TTG		0.388	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		25	29	1	0	2.52088e-20	0.00278	4.54951e-20	25	29				
CSMD3	114788	broad.mit.edu	37	8	114326911	114326911	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr8:114326911G>C	ENST00000297405.5	-	2	534	c.290C>G	c.(289-291)gCa>gGa	p.A97G	CSMD3_ENST00000455883.2_Missense_Mutation_p.A97G|CSMD3_ENST00000352409.3_Missense_Mutation_p.A97G|CSMD3_ENST00000343508.3_Missense_Mutation_p.A57G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	97	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCGTTCTTCTGCTATTATTAC	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(289-291)GCA>GGA		CUB and Sushi multiple domains 3 isoform 1							174.0	167.0	169.0					8																	114326911		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114326911G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.290C>G	8.37:g.114326911G>C	ENSP00000297405:p.Ala97Gly	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.A57G|CSMD3_uc011lhx.1_Missense_Mutation_p.A97G|CSMD3_uc010mcx.1_Missense_Mutation_p.A97G|CSMD3_uc003ynx.3_Missense_Mutation_p.A97G	p.A97G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			2	449	-			97			Extracellular (Potential).|CUB 1.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.290C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052309	0.55218	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.72	5.72	0.89469	CUB (5);	0.088957	0.42548	D	0.000697	T	0.45935	0.1367	L	0.59912	1.85	0.30472	N	0.773245	B;B;B;B;P	0.36465	0.0;0.004;0.044;0.004;0.554	B;B;B;B;B	0.42738	0.002;0.004;0.041;0.008;0.396	T	0.50734	-0.8793	10	0.52906	T	0.07	.	18.8756	0.92334	0.0:0.0:1.0:0.0	.	97;97;97;97;57	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407;Q7Z407-2	.;.;.;CSMD3_HUMAN;.	G	57;97;97;97	ENSP00000345799:A57G;ENSP00000297405:A97G;ENSP00000412263:A97G;ENSP00000343124:A97G	ENSP00000297405:A97G	A	-	2	0	CSMD3	114396087	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.094000	0.50227	2.697000	0.92050	0.557000	0.71058	GCA		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		65	80	0	0	0	0.00361	0	65	80				
TAF1L	138474	broad.mit.edu	37	9	32634632	32634632	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr9:32634632C>A	ENST00000242310.4	-	1	1035	c.946G>T	c.(946-948)Gct>Tct	p.A316S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	316					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGTGGTGGAGCATAGTCATAG	0.473																																							uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(946-948)GCT>TCT		TBP-associated factor RNA polymerase 1-like							172.0	160.0	164.0					9																	32634632		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634632C>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.946G>T	9.37:g.32634632C>A	ENSP00000418379:p.Ala316Ser					uc003zrh.1_RNA	p.A316S	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1036	-			316					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.946G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914202	0.52546	.	.	ENSG00000122728	ENST00000242310	T	0.09538	2.97	1.04	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	M	0.74881	2.28	0.50171	D	0.999857	D	0.60160	0.987	P	0.55455	0.776	T	0.01630	-1.1308	10	0.42905	T	0.14	.	7.4859	0.27432	0.0:1.0:0.0:0.0	.	316	Q8IZX4	TAF1L_HUMAN	S	316	ENSP00000418379:A316S	ENSP00000418379:A316S	A	-	1	0	TAF1L	32624632	1.000000	0.71417	0.724000	0.30704	0.074000	0.17049	4.928000	0.63447	0.507000	0.28148	0.195000	0.17529	GCT		0.473	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			33	20	1	0	1.08312e-15	0.001786	1.81512e-15	33	20				
SPATA31A6	389730	broad.mit.edu	37	9	43627331	43627331	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr9:43627331A>T	ENST00000332857.6	-	4	1384	c.1356T>A	c.(1354-1356)aaT>aaA	p.N452K	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	452					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTGGGCAGACATTGGACATTT	0.517																																							uc011lrb.1		NA																	0					0						c.(1354-1356)AAT>AAA		hypothetical protein LOC389730							43.0	50.0	48.0					9																	43627331		613	1533	2146	SO:0001583	missense	389730					integral to membrane		g.chr9:43627331A>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1356T>A	9.37:g.43627331A>T	ENSP00000329825:p.Asn452Lys						p.N452K	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	1385	-			452						Missense_Mutation	SNP	ENST00000332857.6	37	c.1356T>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	A	9.806	1.181880	0.21787	.	.	ENSG00000185775	ENST00000332857	T	0.06687	3.27	2.56	0.0271	0.14153	.	2.004030	0.01825	N	0.034315	T	0.06462	0.0166	L	0.35644	1.08	0.09310	N	1	B	0.18166	0.026	B	0.24269	0.052	T	0.29701	-1.0003	10	0.05351	T	0.99	0.0162	2.907	0.05723	0.585:0.2627:0.1523:0.0	.	452	Q5VVP1	F75A6_HUMAN	K	452	ENSP00000329825:N452K	ENSP00000329825:N452K	N	-	3	2	FAM75A6	43567327	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.074000	0.14662	0.001000	0.14605	-0.486000	0.04755	AAT		0.517	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		21	468	0	0	0	0.002299	0	21	468				
FAM189A2	9413	broad.mit.edu	37	9	71992567	71992567	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr9:71992567G>T	ENST00000257515.8	+	6	821	c.401G>T	c.(400-402)gGa>gTa	p.G134V	FAM189A2_ENST00000455972.1_Missense_Mutation_p.G134V|FAM189A2_ENST00000303068.7_5'UTR	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	134						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GAGGATCATGGACGCATCCCC	0.527																																							uc010mon.1		NA																	0					0						c.(400-402)GGA>GTA		chromosome 9 open reading frame 61 precursor							135.0	115.0	122.0					9																	71992567		2203	4300	6503	SO:0001583	missense	9413					integral to membrane		g.chr9:71992567G>T	L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"""chromosome 9 open reading frame 61"""	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.401G>T	9.37:g.71992567G>T	ENSP00000257515:p.Gly134Val					FAM189A2_uc004ahg.2_Missense_Mutation_p.G134V|FAM189A2_uc010moo.1_5'UTR	p.G134V	NM_001127608	NP_001121080	Q15884	F1892_HUMAN			6	505	+			134					Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Missense_Mutation	SNP	ENST00000257515.8	37	c.401G>T	CCDS6629.1	.	.	.	.	.	.	.	.	.	.	G	8.572	0.880320	0.17467	.	.	ENSG00000135063	ENST00000455972;ENST00000257515;ENST00000377225	T;T	0.03004	4.08;4.08	5.85	5.85	0.93711	.	0.375968	0.30800	N	0.008848	T	0.06554	0.0168	M	0.78801	2.425	0.26112	N	0.980672	B	0.28713	0.22	B	0.25140	0.058	T	0.18272	-1.0342	10	0.34782	T	0.22	-18.8045	9.5761	0.39459	0.0743:0.1437:0.782:0.0	.	134	Q15884	F1892_HUMAN	V	134;134;133	ENSP00000395675:G134V;ENSP00000257515:G134V	ENSP00000257515:G134V	G	+	2	0	FAM189A2	71182387	0.362000	0.24980	0.156000	0.22583	0.394000	0.30568	1.212000	0.32394	2.771000	0.95319	0.561000	0.74099	GGA		0.527	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052576.2	NM_004816		23	15	1	0	5.45024e-15	0.00333	9.08373e-15	23	15				
TRPM6	140803	broad.mit.edu	37	9	77403579	77403579	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr9:77403579C>A	ENST00000360774.1	-	20	2855	c.2618G>T	c.(2617-2619)tGg>tTg	p.W873L	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.W873L|TRPM6_ENST00000449912.2_Missense_Mutation_p.W868L|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.W868L|TRPM6_ENST00000451710.3_Missense_Mutation_p.W873L	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	873					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCTAACAAGCCACTCCTGCAC	0.498																																							uc004ajl.1		NA																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(2617-2619)TGG>TTG		transient receptor potential cation channel,							126.0	104.0	111.0					9																	77403579		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77403579C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2618G>T	9.37:g.77403579C>A	ENSP00000354006:p.Trp873Leu					TRPM6_uc004ajk.1_Missense_Mutation_p.W868L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Intron	p.W873L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			20	2856	-			873			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.2618G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758499	0.89843	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.68	5.68	0.88126	.	0.050818	0.85682	D	0.000000	T	0.75824	0.3902	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.987	T	0.78234	-0.2283	10	0.87932	D	0	.	19.7987	0.96497	0.0:1.0:0.0:0.0	.	873;868	Q9BX84;Q9BX84-3	TRPM6_HUMAN;.	L	873;873;868;868;873;536;536	ENSP00000354006:W873L;ENSP00000407341:W873L;ENSP00000396672:W868L;ENSP00000354962:W868L;ENSP00000366060:W873L	ENSP00000309693:W536L	W	-	2	0	TRPM6	76593399	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	6.012000	0.70767	2.687000	0.91594	0.563000	0.77884	TGG		0.498	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		38	13	1	0	5.43694e-19	0.005524	9.64108e-19	38	13				
LPAR1	1902	broad.mit.edu	37	9	113637828	113637828	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr9:113637828C>G	ENST00000374431.3	-	5	1351	c.968G>C	c.(967-969)aGg>aCg	p.R323T	LPAR1_ENST00000374430.2_Missense_Mutation_p.R323T|LPAR1_ENST00000538760.1_Missense_Mutation_p.R324T|LPAR1_ENST00000541779.1_Missense_Mutation_p.R324T|LPAR1_ENST00000358883.4_Missense_Mutation_p.R323T	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	323					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GAGGATCTGCCTAAAGGTGGC	0.547																																					NSCLC(115;661 2323 9836 34256)	NSCLC(115;661 2323 9836 34256)	uc004bfa.2		NA																	0				ovary(2)	2						c.(967-969)AGG>ACG		lysophosphatidic acid receptor 1							177.0	172.0	173.0					9																	113637828		2203	4300	6503	SO:0001583	missense	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113637828C>G	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.968G>C	9.37:g.113637828C>G	ENSP00000363553:p.Arg323Thr					LPAR1_uc011lwm.1_Missense_Mutation_p.R324T|LPAR1_uc004bfb.2_Missense_Mutation_p.R323T|LPAR1_uc004bfc.2_Missense_Mutation_p.R323T|LPAR1_uc011lwn.1_Missense_Mutation_p.R305T|LPAR1_uc011lwo.1_Missense_Mutation_p.R324T|LPAR1_uc010mub.2_Missense_Mutation_p.R323T	p.R323T	NM_057159	NP_476500	Q92633	LPAR1_HUMAN			5	1223	-			323			Cytoplasmic (Potential).		B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	c.968G>C	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241899	0.39598	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	6.06	5.16	0.70880	.	0.230106	0.46145	D	0.000302	T	0.25121	0.0610	N	0.14661	0.345	0.41646	D	0.989109	B;B;B	0.26775	0.159;0.159;0.05	B;B;B	0.34038	0.174;0.174;0.112	T	0.12889	-1.0530	10	0.21540	T	0.41	.	6.631	0.22857	0.0:0.783:0.0:0.217	.	324;324;323	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	T	323;324;323;323;305;324	ENSP00000363553:R323T;ENSP00000445697:R324T;ENSP00000363552:R323T;ENSP00000351755:R323T;ENSP00000440201:R324T	ENSP00000351755:R323T	R	-	2	0	LPAR1	112677649	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	3.068000	0.50018	2.882000	0.98803	0.655000	0.94253	AGG		0.547	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		52	22	0	0	0	0.00361	0	52	22				
LAMC3	10319	broad.mit.edu	37	9	133920910	133920910	+	Splice_Site	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr9:133920910G>T	ENST00000361069.4	+	8	1515		c.e8-1		LAMC3_ENST00000480883.1_Splice_Site	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3						astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTCCATTTCAGATGTCGCCCG	0.607																																							uc004caa.1		NA																	0				ovary(2)|pancreas(1)	3						c.e8-1		laminin, gamma 3 precursor							59.0	57.0	58.0					9																	133920910		2203	4300	6503	SO:0001630	splice_region_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133920910G>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1383-1G>T	9.37:g.133920910G>T							p.R461_splice	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	8	1481	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)						B1APX9|B1APY0|Q59H72	Splice_Site	SNP	ENST00000361069.4	37	c.1383_splice	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499489	0.26861	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	.	.	.	4.6	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1002	0.42499	0.0974:0.0:0.9026:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMC3	132910731	1.000000	0.71417	0.918000	0.36340	0.013000	0.08279	8.794000	0.91867	1.161000	0.42604	0.555000	0.69702	.		0.607	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	Intron	11	38	1	0	3.27435e-08	0.00245	4.64501e-08	11	38				
STS	412	broad.mit.edu	37	X	7177623	7177623	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:7177623G>A	ENST00000217961.4	+	5	851	c.631G>A	c.(631-633)Gtg>Atg	p.V211M		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	211					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	GCTACTCCACGTGCCTCTAGG	0.552									Ichthyosis																														uc004cry.3		NA																	0				central_nervous_system(1)	1						c.(631-633)GTG>ATG		steryl-sulfatase precursor	Estrone(DB00655)						107.0	77.0	87.0					X																	7177623		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7177623G>A	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.631G>A	X.37:g.7177623G>A	ENSP00000217961:p.Val211Met						p.V211M	NM_000351	NP_000342	P08842	STS_HUMAN			5	876	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	211			Cytoplasmic.		B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.631G>A	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911219	0.33721	.	.	ENSG00000101846	ENST00000217961	D	0.94000	-3.33	3.84	0.644	0.17776	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	2.693180	0.02330	N	0.073834	D	0.92977	0.7765	L	0.39397	1.21	0.09310	N	1	D	0.57257	0.979	P	0.54856	0.762	T	0.82214	-0.0568	10	0.52906	T	0.07	.	5.9023	0.18974	0.3063:0.1559:0.5378:0.0	.	211	P08842	STS_HUMAN	M	211	ENSP00000217961:V211M	ENSP00000217961:V211M	V	+	1	0	STS	7187623	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.195000	0.17155	0.080000	0.16959	-0.242000	0.12053	GTG		0.552	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		18	77	0	0	0	0.008871	0	18	77				
EGFL6	25975	broad.mit.edu	37	X	13607713	13607713	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:13607713C>A	ENST00000361306.1	+	2	370	c.113C>A	c.(112-114)cCt>cAt	p.P38H	EGFL6_ENST00000380602.3_Missense_Mutation_p.P38H	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	38					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GCACGTCAGCCTGGGGTCTGT	0.458																																							uc004cvi.2		NA																	0				breast(2)	2						c.(112-114)CCT>CAT		epidermal growth factor-like protein 6							124.0	96.0	106.0					X																	13607713		2203	4300	6503	SO:0001583	missense	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13607713C>A	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.113C>A	X.37:g.13607713C>A	ENSP00000355126:p.Pro38His					EGFL6_uc004cvj.2_Missense_Mutation_p.P38H|EGFL6_uc011mik.1_Translation_Start_Site	p.P38H	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN			2	353	+			38					B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	ENST00000361306.1	37	c.113C>A	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040069	0.35989	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	T;T	0.70516	-0.49;-0.37	4.91	4.05	0.47172	.	0.318097	0.33180	N	0.005194	T	0.65386	0.2686	N	0.11064	0.09	0.33753	D	0.620919	D;D	0.69078	0.997;0.997	P;P	0.58873	0.847;0.817	T	0.76019	-0.3112	10	0.87932	D	0	.	11.4489	0.50140	0.0:0.9077:0.0:0.0923	.	38;38	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	H	38	ENSP00000355126:P38H;ENSP00000369976:P38H	ENSP00000355126:P38H	P	+	2	0	EGFL6	13517634	0.998000	0.40836	0.934000	0.37439	0.119000	0.20118	3.623000	0.54224	0.869000	0.35703	-0.312000	0.09012	CCT		0.458	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		20	46	1	0	5.26018e-13	0.001882	8.44397e-13	20	46				
EGFL6	25975	broad.mit.edu	37	X	13624535	13624535	+	Silent	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:13624535C>A	ENST00000361306.1	+	6	815	c.558C>A	c.(556-558)ccC>ccA	p.P186P	EGFL6_ENST00000380602.3_Silent_p.P186P	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	186	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TCATCTGTCCCTACAATCGAA	0.408																																							uc004cvi.2		NA																	0				breast(2)	2						c.(556-558)CCC>CCA		epidermal growth factor-like protein 6							210.0	168.0	183.0					X																	13624535		2203	4300	6503	SO:0001819	synonymous_variant	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13624535C>A	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.558C>A	X.37:g.13624535C>A						EGFL6_uc004cvj.2_Silent_p.P186P|EGFL6_uc011mik.1_Silent_p.P87P	p.P186P	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN			6	798	+			186			EGF-like 4; calcium-binding (Potential).		B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Silent	SNP	ENST00000361306.1	37	c.558C>A	CCDS14155.1																																																																																				0.408	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		32	67	1	0	3.76114e-14	0.004289	6.20079e-14	32	67				
MAP7D2	256714	broad.mit.edu	37	X	20043197	20043197	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:20043197C>G	ENST00000379651.3	-	9	1179	c.1161G>C	c.(1159-1161)ttG>ttC	p.L387F	MAP7D2_ENST00000543767.1_Missense_Mutation_p.L272F|MAP7D2_ENST00000379643.5_Missense_Mutation_p.L428F|MAP7D2_ENST00000452324.3_Missense_Mutation_p.L335F|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000443379.3_Missense_Mutation_p.L342F	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	387					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TGGGCTTCCCCAAGGCTGCAC	0.517																																							uc004czr.1		NA																	0				ovary(2)|breast(1)	3						c.(1159-1161)TTG>TTC		MAP7 domain containing 2							105.0	92.0	96.0					X																	20043197		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20043197C>G	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1161G>C	X.37:g.20043197C>G	ENSP00000368972:p.Leu387Phe					MAP7D2_uc004czq.1_Missense_Mutation_p.L272F|MAP7D2_uc011mji.1_Missense_Mutation_p.L335F|MAP7D2_uc010nfo.1_Missense_Mutation_p.L428F|MAP7D2_uc011mjj.1_Missense_Mutation_p.L342F	p.L387F	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN			9	1180	-			387					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.1161G>C	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234792	0.58886	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.05025	3.51;3.51;3.51;3.51;3.51	5.67	-3.77	0.04346	.	1.504910	0.03992	N	0.295046	T	0.10294	0.0252	L	0.36672	1.1	0.09310	N	0.999999	P;P;P;P;P	0.46142	0.873;0.755;0.846;0.873;0.846	P;P;P;P;P	0.49192	0.602;0.466;0.466;0.602;0.466	T	0.37526	-0.9702	10	0.59425	D	0.04	9.0161	11.5355	0.50634	0.0:0.2886:0.0:0.7114	.	342;335;428;387;272	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	F	387;428;272;342;70;335	ENSP00000368972:L387F;ENSP00000368964:L428F;ENSP00000440691:L272F;ENSP00000388239:L342F;ENSP00000413301:L335F	ENSP00000368964:L428F	L	-	3	2	MAP7D2	19953118	0.960000	0.32886	0.003000	0.11579	0.963000	0.63663	0.203000	0.17315	-1.285000	0.02387	-0.191000	0.12829	TTG		0.517	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		41	80	0	0	0	0.006999	0	41	80				
GK	2710	broad.mit.edu	37	X	30709269	30709269	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:30709269G>T	ENST00000378943.3	+	5	546	c.367G>T	c.(367-369)Gtt>Ttt	p.V123F	GK_ENST00000378946.3_Missense_Mutation_p.V123F|GK_ENST00000427190.1_5'UTR|GK_ENST00000378945.3_Missense_Mutation_p.V123F	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	123					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						CCAGTCTACCGTTGAGAGTCT	0.269																																							uc004dch.3		NA																	0				central_nervous_system(1)	1						c.(367-369)GTT>TTT		glycerol kinase isoform a							54.0	58.0	56.0					X																	30709269		2199	4277	6476	SO:0001583	missense	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30709269G>T	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.367G>T	X.37:g.30709269G>T	ENSP00000368226:p.Val123Phe					GK_uc010ngj.2_Missense_Mutation_p.V123F|GK_uc004dci.3_Missense_Mutation_p.V123F|GK_uc011mjz.1_5'UTR|GK_uc011mka.1_5'UTR|GK_uc010ngk.2_5'UTR	p.V123F	NM_203391	NP_976325	P32189	GLPK_HUMAN			5	546	+			123					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	ENST00000378943.3	37	c.367G>T	CCDS48090.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650650	0.87958	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000425166	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.82490	0.5048	M	0.92923	3.36	0.80722	D	1	D;D;D	0.69078	0.996;0.996;0.997	D;D;D	0.74674	0.972;0.972;0.984	D	0.86481	0.1791	10	0.87932	D	0	.	19.1891	0.93656	0.0:0.0:1.0:0.0	.	123;123;123	P32189-2;P32189-1;A6NJP5	.;.;.	F	123;123;123;123;42	ENSP00000368229:V123F;ENSP00000368226:V123F;ENSP00000368228:V123F;ENSP00000404682:V42F	ENSP00000368226:V123F	V	+	1	0	GK	30619190	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.610000	0.90902	2.482000	0.83794	0.600000	0.82982	GTT		0.269	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167		31	56	1	0	9.17885e-22	0.003271	1.71751e-21	31	56				
GK	2710	broad.mit.edu	37	X	30714174	30714174	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:30714174G>T	ENST00000378943.3	+	7	747	c.568G>T	c.(568-570)Gtc>Ttc	p.V190F	RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378946.3_Missense_Mutation_p.V190F|GK_ENST00000427190.1_5'UTR|GK_ENST00000378945.3_Missense_Mutation_p.V190F	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	190					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						GACAGGAGGAGTCAATGGAGG	0.363																																							uc004dch.3		NA																	0				central_nervous_system(1)	1						c.(568-570)GTC>TTC		glycerol kinase isoform a							84.0	73.0	77.0					X																	30714174		2202	4299	6501	SO:0001583	missense	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30714174G>T	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.568G>T	X.37:g.30714174G>T	ENSP00000368226:p.Val190Phe					GK_uc010ngj.2_Missense_Mutation_p.V190F|GK_uc004dci.3_Missense_Mutation_p.V190F|GK_uc011mjz.1_5'UTR|GK_uc011mka.1_Missense_Mutation_p.V27F|GK_uc010ngk.2_5'UTR	p.V190F	NM_203391	NP_976325	P32189	GLPK_HUMAN			7	747	+			190					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	ENST00000378943.3	37	c.568G>T	CCDS48090.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559113	0.45590	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000451432;ENST00000425166	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.04	-1.6	0.08426	.	0.414703	0.26307	N	0.025129	T	0.55162	0.1903	M	0.73962	2.25	0.22620	N	0.99893	B;B;B;B	0.32893	0.389;0.123;0.123;0.15	P;B;B;B	0.45343	0.477;0.24;0.227;0.22	T	0.56601	-0.7952	10	0.72032	D	0.01	.	5.8249	0.18548	0.5521:0.2859:0.162:0.0	.	27;190;190;190	E7EQC0;P32189-2;P32189-1;A6NJP5	.;.;.;.	F	190;190;190;190;27;109	ENSP00000368229:V190F;ENSP00000368226:V190F;ENSP00000368228:V190F;ENSP00000404682:V109F	ENSP00000368226:V190F	V	+	1	0	GK	30624095	0.994000	0.37717	0.943000	0.38184	0.985000	0.73830	3.123000	0.50453	-0.138000	0.11434	0.506000	0.49869	GTC		0.363	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167		4	19	1	0	0.000602214	0.000602	0.000758989	4	19				
DMD	1756	broad.mit.edu	37	X	32490369	32490369	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:32490369C>A	ENST00000357033.4	-	22	3067	c.2861G>T	c.(2860-2862)tGg>tTg	p.W954L	DMD_ENST00000378677.2_Missense_Mutation_p.W950L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	954					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCTGGACCCATGTCCTGAT	0.428																																							uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(2860-2862)TGG>TTG		dystrophin Dp427m isoform							172.0	144.0	153.0					X																	32490369		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32490369C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2861G>T	X.37:g.32490369C>A	ENSP00000354923:p.Trp954Leu					DMD_uc004dcz.2_Missense_Mutation_p.W831L|DMD_uc004dcy.1_Missense_Mutation_p.W950L|DMD_uc004ddb.1_Missense_Mutation_p.W946L|DMD_uc010ngo.1_Intron	p.W954L	NM_004006	NP_003997	P11532	DMD_HUMAN			22	3105	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	954			Spectrin 6.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2861G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712998	0.48517	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.70164	-0.46;-0.46	5.2	5.2	0.72013	.	0.000000	0.33813	U	0.004532	T	0.64692	0.2621	L	0.34521	1.04	0.80722	D	1	B;D;P	0.57571	0.419;0.98;0.474	B;P;P	0.52454	0.346;0.699;0.478	T	0.59857	-0.7375	10	0.09084	T	0.74	.	17.9221	0.88970	0.0:1.0:0.0:0.0	.	946;954;950	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	L	946;950;954;954;831	ENSP00000367948:W950L;ENSP00000354923:W954L	ENSP00000354923:W954L	W	-	2	0	DMD	32400290	1.000000	0.71417	0.983000	0.44433	0.030000	0.12068	7.283000	0.78640	2.166000	0.68216	0.544000	0.68410	TGG		0.428	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		23	35	1	0	6.21321e-17	0.00278	1.05868e-16	23	35				
MAGEB16	139604	broad.mit.edu	37	X	35821063	35821063	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:35821063C>G	ENST00000399989.1	+	2	1029	c.750C>G	c.(748-750)atC>atG	p.I250M	MAGEB16_ENST00000399992.1_Missense_Mutation_p.I282M|MAGEB16_ENST00000399988.1_Missense_Mutation_p.I250M|MAGEB16_ENST00000399987.1_Missense_Mutation_p.I250M|MAGEB16_ENST00000399985.1_Missense_Mutation_p.I250M	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	250	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAATGCTCATCACCAAAGATT	0.502																																							uc010ngt.1		NA																	0				lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(748-750)ATC>ATG		melanoma antigen family B, 16							41.0	41.0	41.0					X																	35821063		2168	4286	6454	SO:0001583	missense	139604							g.chrX:35821063C>G		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.750C>G	X.37:g.35821063C>G	ENSP00000382871:p.Ile250Met						p.I250M	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN			2	1029	+			250			MAGE.		A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	c.750C>G	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426227	0.25726	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23	2.88	0.893	0.19236	.	0.256947	0.38548	N	0.001645	T	0.22003	0.0530	M	0.79805	2.47	0.09310	N	1	D	0.67145	0.996	D	0.70227	0.968	T	0.04153	-1.0973	10	0.62326	D	0.03	.	4.4663	0.11691	0.2685:0.4924:0.239:0.0	.	250	A2A368	MAGBG_HUMAN	M	250;282;250;250;250	ENSP00000382870:I250M;ENSP00000382874:I282M;ENSP00000382869:I250M;ENSP00000382871:I250M;ENSP00000382867:I250M	ENSP00000382867:I250M	I	+	3	3	MAGEB16	35730984	0.206000	0.23470	0.009000	0.14445	0.026000	0.11368	0.197000	0.17197	0.124000	0.18369	0.473000	0.43528	ATC		0.502	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			21	30	0	0	0	0.008871	0	21	30				
RPGR	6103	broad.mit.edu	37	X	38146127	38146127	+	Intron	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:38146127C>A	ENST00000339363.3	-	14	2688				RPGR_ENST00000338898.3_Intron|RPGR_ENST00000378505.2_Nonsense_Mutation_p.E709*|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						tgctcctgctcttccccatcc	0.537																																							uc004ded.1		NA																	0				ovary(1)	1						c.(2125-2127)GAG>TAG		retinitis pigmentosa GTPase regulator isoform C							179.0	119.0	139.0					X																	38146127		2191	4294	6485	SO:0001627	intron_variant	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38146127C>A	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+219G>T	X.37:g.38146127C>A						RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron	p.E709*	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			15	2293	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Nonsense_Mutation	SNP	ENST00000339363.3	37	c.2125G>T		.	.	.	.	.	.	.	.	.	.	c	33	5.213605	0.95069	.	.	ENSG00000156313	ENST00000378505	.	.	.	2.05	2.05	0.26809	.	0.544775	0.14806	U	0.297340	.	.	.	.	.	.	0.20563	N	0.999884	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	8.9564	0.35820	0.0:1.0:0.0:0.0	.	.	.	.	X	709	.	ENSP00000367766:E709X	E	-	1	0	RPGR	38031071	0.000000	0.05858	0.013000	0.15412	0.015000	0.08874	-0.117000	0.10708	1.055000	0.40461	0.353000	0.21931	GAG		0.537	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		11	21	1	0	0.000673444	0.008291	0.000845269	11	21				
OTC	5009	broad.mit.edu	37	X	38268137	38268137	+	Silent	SNP	C	C	A	rs72558434		TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:38268137C>A	ENST00000039007.4	+	8	878	c.726C>A	c.(724-726)acC>acA	p.T242T	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	242			T -> I (in OTCD; late onset).		ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	AGAATGGTACCAAGCTGTTGC	0.393																																							uc004def.3		NA																	0				ovary(1)|breast(1)	2						c.(724-726)ACC>ACA		ornithine carbamoyltransferase precursor	L-Citrulline(DB00155)|L-Ornithine(DB00129)						182.0	145.0	158.0					X																	38268137		2202	4300	6502	SO:0001819	synonymous_variant	5009				arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	g.chrX:38268137C>A	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.726C>A	X.37:g.38268137C>A							p.T242T	NM_000531	NP_000522	P00480	OTC_HUMAN			8	940	+			242		T -> I (in OTCD; late onset).			A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Silent	SNP	ENST00000039007.4	37	c.726C>A	CCDS14247.1																																																																																				0.393	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2			19	55	1	0	1.67942e-08	0.006122	2.43915e-08	19	55				
ITIH6	347365	broad.mit.edu	37	X	54818409	54818409	+	Silent	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:54818409G>T	ENST00000218436.6	-	3	347	c.318C>A	c.(316-318)atC>atA	p.I106I		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	106	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CTTCTTCATAGATTTTCTTTG	0.458																																							uc004dtj.2		NA																	0				lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(316-318)ATC>ATA		inter-alpha (globulin) inhibitor H5-like							277.0	193.0	221.0					X																	54818409		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54818409G>T	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.318C>A	X.37:g.54818409G>T							p.I106I	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			3	348	-			106			VIT.		A6NN03	Silent	SNP	ENST00000218436.6	37	c.318C>A	CCDS14361.1																																																																																				0.458	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		24	56	1	0	3.73148e-12	0.007291	5.8665e-12	24	56				
AMER1	139285	broad.mit.edu	37	X	63410547	63410547	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:63410547C>A	ENST00000330258.3	-	2	2892	c.2620G>T	c.(2620-2622)Gga>Tga	p.G874*	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	874					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CCAGGCAGTCCCAAGTATCGA	0.577																																							uc004dvo.2		NA																	67	Whole gene deletion(67)	p.0?(40)	kidney(65)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(2620-2622)GGA>TGA		family with sequence similarity 123B							43.0	45.0	44.0					X																	63410547		2112	4208	6320	SO:0001587	stop_gained	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63410547C>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2620G>T	X.37:g.63410547C>A	ENSP00000329117:p.Gly874*						p.G874*	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	2893	-			874					A2IB86|Q8N885	Nonsense_Mutation	SNP	ENST00000330258.3	37	c.2620G>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	41	9.094352	0.99064	.	.	ENSG00000184675	ENST00000330258	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.0171	12.3616	0.55207	0.0:0.8329:0.167:0.0	.	.	.	.	X	874	.	.	G	-	1	0	FAM123B	63327272	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.433000	0.52834	2.385000	0.81259	0.529000	0.55759	GGA		0.577	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		12	23	1	0	0.000978159	0.000978	0.0012227	12	23				
MTMR8	55613	broad.mit.edu	37	X	63569937	63569937	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:63569937T>C	ENST00000374852.3	-	5	549	c.482A>G	c.(481-483)tAc>tGc	p.Y161C	MTMR8_ENST00000453546.1_Missense_Mutation_p.Y161C	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	161	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TTCAGGAGGGTAGGTGCTGCA	0.353																																							uc004dvs.2		NA																	1	Whole gene deletion(1)		ovary(1)	ovary(2)|breast(2)	4						c.(481-483)TAC>TGC		myotubularin related protein 8							88.0	75.0	79.0					X																	63569937		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63569937T>C	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.482A>G	X.37:g.63569937T>C	ENSP00000363985:p.Tyr161Cys					MTMR8_uc011mou.1_Missense_Mutation_p.Y161C|MTMR8_uc004dvt.1_Missense_Mutation_p.Y161C	p.Y161C	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			5	550	-			161			Myotubularin phosphatase.		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.482A>G	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	T	8.096	0.775636	0.16051	.	.	ENSG00000102043	ENST00000453546;ENST00000374852	D;D	0.96885	-4.16;-4.16	2.89	2.89	0.33648	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.44483	U	0.000445	D	0.98776	0.9588	H	0.99286	4.5	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.97936	1.0323	10	0.87932	D	0	.	9.5489	0.39297	0.0:0.0:0.0:1.0	.	161;161	B4DQL0;Q96EF0	.;MTMR8_HUMAN	C	161	ENSP00000394003:Y161C;ENSP00000363985:Y161C	ENSP00000363985:Y161C	Y	-	2	0	MTMR8	63486662	1.000000	0.71417	0.931000	0.37212	0.340000	0.28889	6.238000	0.72350	1.167000	0.42706	0.417000	0.27973	TAC		0.353	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		25	52	0	0	0	0.005443	0	25	52				
HNRNPH2	3188	broad.mit.edu	37	X	100667052	100667052	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:100667052G>T	ENST00000316594.5	+	2	154	c.76G>T	c.(76-78)Gaa>Taa	p.E26*	RPL36A-HNRNPH2_ENST00000409170.3_3'UTR	NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	26	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						CTCAGCCGATGAAGTGATGCG	0.527																																							uc004ehm.2		NA																	0					0						c.(76-78)GAA>TAA		heterogeneous nuclear ribonucleoprotein H2							152.0	121.0	131.0					X																	100667052		2203	4300	6503	SO:0001587	stop_gained	3188				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:100667052G>T	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.76G>T	X.37:g.100667052G>T	ENSP00000361927:p.Glu26*					HNRNPH2_uc004ehn.2_Nonsense_Mutation_p.E26*	p.E26*	NM_019597	NP_062543	P55795	HNRH2_HUMAN			2	246	+			26			RRM 1.		A1L400|Q9HHA7	Nonsense_Mutation	SNP	ENST00000316594.5	37	c.76G>T	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081747	0.76528	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.8428	15.449	0.75257	0.0:0.0:1.0:0.0	.	.	.	.	X	26	.	ENSP00000361927:E26X	E	+	1	0	HNRNPH2	100553708	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.954000	0.87848	2.329000	0.79093	0.600000	0.82982	GAA		0.527	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		19	82	1	0	1.67942e-08	0.006122	2.43915e-08	19	82				
GPRASP2	114928	broad.mit.edu	37	X	101971017	101971017	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:101971017G>C	ENST00000535209.1	+	4	2051	c.1220G>C	c.(1219-1221)tGt>tCt	p.C407S	GPRASP2_ENST00000332262.5_Missense_Mutation_p.C407S|GPRASP2_ENST00000543253.1_Missense_Mutation_p.C407S			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	407						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TCAGCAATCTGTGAATCTGAG	0.552																																							uc004ejk.2		NA																	0				ovary(1)	1						c.(1219-1221)TGT>TCT		G protein-coupled receptor associated sorting							61.0	63.0	62.0					X																	101971017		2203	4300	6503	SO:0001583	missense	114928					cytoplasm	protein binding	g.chrX:101971017G>C	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1220G>C	X.37:g.101971017G>C	ENSP00000437394:p.Cys407Ser					GPRASP2_uc004ejl.2_Missense_Mutation_p.C407S|GPRASP2_uc004ejm.2_Missense_Mutation_p.C407S|GPRASP2_uc011mrp.1_5'Flank	p.C407S	NM_138437	NP_612446	Q96D09	GASP2_HUMAN			4	2554	+			407					D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.1220G>C	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	4.737	0.137025	0.09032	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07444	3.19;3.19;3.19	4.44	2.47	0.30058	.	0.294539	0.24988	N	0.034020	T	0.06826	0.0174	M	0.61703	1.905	0.24058	N	0.996022	B	0.18741	0.03	B	0.15484	0.013	T	0.45308	-0.9270	10	0.05721	T	0.95	.	4.3756	0.11269	0.1426:0.2192:0.6382:0.0	.	407	Q96D09	GASP2_HUMAN	S	407	ENSP00000437872:C407S;ENSP00000437394:C407S;ENSP00000339057:C407S	ENSP00000339057:C407S	C	+	2	0	GPRASP2	101857673	0.875000	0.30112	0.611000	0.29010	0.968000	0.65278	0.616000	0.24344	0.508000	0.28173	0.600000	0.82982	TGT		0.552	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		33	68	0	0	0	0.005524	0	33	68				
SLC25A53	401612	broad.mit.edu	37	X	103349839	103349839	+	Silent	SNP	C	C	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:103349839C>A	ENST00000357421.4	-	2	282	c.102G>T	c.(100-102)ggG>ggT	p.G34G		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	34					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											TGGAAACGGCCCCAAGGGCAT	0.542																																							uc004elu.2		NA																	0					0						c.(100-102)GGG>GGT		mitochondrial carrier triple repeat 6							60.0	55.0	57.0					X																	103349839		2203	4300	6503	SO:0001819	synonymous_variant	401612				transport	integral to membrane|mitochondrial inner membrane		g.chrX:103349839C>A		CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.102G>T	X.37:g.103349839C>A							p.G34G	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN			2	283	-			34			Helical; Name=1; (Potential).|Solcar 1.		B2RTT9	Silent	SNP	ENST00000357421.4	37	c.102G>T	CCDS35363.1																																																																																				0.542	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755		10	55	1	0	0.000442599	0.006214	0.00056247	10	55				
KIAA1210	57481	broad.mit.edu	37	X	118250553	118250553	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:118250553G>T	ENST00000402510.2	-	4	555	c.556C>A	c.(556-558)Cag>Aag	p.Q186K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	186										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCTTCTTCCTGGGTATCTTCG	0.418																																							uc004era.3		NA																	0				ovary(4)|skin(1)	5						c.(556-558)CAG>AAG		hypothetical protein LOC57481							171.0	145.0	154.0					X																	118250553		1907	4105	6012	SO:0001583	missense	57481							g.chrX:118250553G>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.556C>A	X.37:g.118250553G>T	ENSP00000384670:p.Gln186Lys						p.Q186K	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			4	556	-			186					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.556C>A	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	G	0.102	-1.150911	0.01700	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.09817	2.94	5.14	2.31	0.28768	.	.	.	.	.	T	0.04588	0.0125	N	0.08118	0	0.09310	N	1	P	0.42584	0.784	B	0.43274	0.414	T	0.14952	-1.0454	9	0.02654	T	1	.	4.544	0.12073	0.2055:0.1802:0.6142:0.0	.	186	Q9ULL0	K1210_HUMAN	K	186;22	ENSP00000384670:Q186K	ENSP00000396164:Q22K	Q	-	1	0	RP13-347D8.5;RP13-347D8.6	118134581	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.072000	0.14617	0.474000	0.27392	-0.229000	0.12294	CAG		0.418	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		9	21	1	0	0.00448238	0.004482	0.00551261	9	21				
OCRL	4952	broad.mit.edu	37	X	128722933	128722933	+	Silent	SNP	T	T	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:128722933T>C	ENST00000371113.4	+	22	2577	c.2412T>C	c.(2410-2412)tgT>tgC	p.C804C	OCRL_ENST00000357121.5_Silent_p.C796C	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	804	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CAGTCATCTGTTACGAGCTGT	0.527																																							uc004euq.2		NA																	0				lung(2)|ovary(1)|kidney(1)	4						c.(2410-2412)TGT>TGC		phosphatidylinositol polyphosphate 5-phosphatase							141.0	111.0	121.0					X																	128722933		2203	4300	6503	SO:0001819	synonymous_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128722933T>C	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2412T>C	X.37:g.128722933T>C						OCRL_uc004eur.2_Silent_p.C796C|OCRL_uc010nrb.2_RNA	p.C804C	NM_000276	NP_000267	Q01968	OCRL_HUMAN			22	2577	+			804			Rho-GAP.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	c.2412T>C	CCDS35393.1																																																																																				0.527	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		35	55	0	0	0	0.005524	0	35	55				
BCORL1	63035	broad.mit.edu	37	X	129155073	129155073	+	Silent	SNP	G	G	A	rs61754128		TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:129155073G>A	ENST00000218147.7	+	5	3752	c.3555G>A	c.(3553-3555)ccG>ccA	p.P1185P	BCORL1_ENST00000359304.2_Silent_p.P1185P|BCORL1_ENST00000303743.5_Silent_p.P1185P|BCORL1_ENST00000540052.1_Silent_p.P1185P			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1185					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)				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						ACCGGAAGCCGACAAAGCCGG	0.627																																							uc004evb.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(3553-3555)CCG>CCA		BCL6 co-repressor-like 1		G		0,3835		0,0,0,1632,571	38.0	39.0	38.0		3555	0.8	1.0	X	dbSNP_129	38	2,6726		0,1,1,2427,1871	no	coding-synonymous	BCORL1	NM_021946.4		0,1,1,4059,2442	AA,AG,A,GG,G		0.0297,0.0,0.0189		1185/1712	129155073	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129155073G>A	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.3555G>A	X.37:g.129155073G>A						BCORL1_uc010nrd.1_Silent_p.P1087P	p.P1185P	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			5	3669	+			1185					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.3555G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	9.647	1.140631	0.21205	0.0	2.97E-4	ENSG00000085185	ENST00000441294	.	.	.	6.04	0.757	0.18427	.	.	.	.	.	T	0.24661	0.0598	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.24119	-1.0169	4	.	.	.	-1.3118	4.8044	0.13312	0.6095:0.0:0.2461:0.1443	rs61754128	.	.	.	N	621	.	.	D	+	1	0	BCORL1	128982754	0.005000	0.15991	0.982000	0.44146	0.984000	0.73092	-0.102000	0.10956	0.367000	0.24454	-0.503000	0.04515	GAC		0.627	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		16	36	0	0	0	0.00499	0	16	36				
BCORL1	63035	broad.mit.edu	37	X	129185893	129185893	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:129185893A>T	ENST00000218147.7	+	12	4952	c.4755A>T	c.(4753-4755)caA>caT	p.Q1585H	BCORL1_ENST00000359304.2_Missense_Mutation_p.Q1455H|BCORL1_ENST00000303743.5_Missense_Mutation_p.Q1659H|BCORL1_ENST00000540052.1_Missense_Mutation_p.Q1585H			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1585					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)				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						GCTCAGATCAAGAAGGAGACG	0.498																																							uc004evb.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(4753-4755)CAA>CAT		BCL6 co-repressor-like 1							191.0	156.0	167.0					X																	129185893		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129185893A>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.4755A>T	X.37:g.129185893A>T	ENSP00000218147:p.Gln1585His					BCORL1_uc004evc.1_Missense_Mutation_p.Q421H	p.Q1585H	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			12	4869	+			1585					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.4755A>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.370116	0.42003	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.42513	0.97;1.26;0.98;0.97;1.3	4.29	-0.416	0.12351	.	0.258863	0.20494	N	0.091235	T	0.29321	0.0730	L	0.46157	1.445	0.45272	D	0.998274	B;B	0.14438	0.01;0.002	B;B	0.11329	0.006;0.005	T	0.08659	-1.0711	10	0.62326	D	0.03	-0.0286	3.7992	0.08751	0.2088:0.0:0.3439:0.4474	.	1659;1585	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	H	1585;1659;1455;1585;1259	ENSP00000218147:Q1585H;ENSP00000307541:Q1659H;ENSP00000352253:Q1455H;ENSP00000437775:Q1585H;ENSP00000399483:Q1259H	ENSP00000218147:Q1585H	Q	+	3	2	BCORL1	129013574	1.000000	0.71417	0.996000	0.52242	0.884000	0.51177	0.943000	0.29030	0.021000	0.15133	0.417000	0.27973	CAA		0.498	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		60	117	0	0	0	0.00361	0	60	117				
ARHGAP36	158763	broad.mit.edu	37	X	130215645	130215645	+	Silent	SNP	T	T	C			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:130215645T>C	ENST00000276211.5	+	2	351	c.6T>C	c.(4-6)ggT>ggC	p.G2G	ARHGAP36_ENST00000370921.1_5'Flank|ARHGAP36_ENST00000370922.1_Intron	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	2					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCAGAATGGGTGGCTGCATTC	0.517																																							uc004evz.2		NA																	0				ovary(3)	3						c.(4-6)GGT>GGC		hypothetical protein LOC158763 precursor							112.0	78.0	90.0					X																	130215645		2203	4300	6503	SO:0001819	synonymous_variant	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130215645T>C		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.6T>C	X.37:g.130215645T>C						ARHGAP36_uc004ewa.2_Intron|ARHGAP36_uc004ewb.2_Intron|ARHGAP36_uc004ewc.2_5'Flank	p.G2G	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			2	351	+			2					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	ENST00000276211.5	37	c.6T>C	CCDS14628.1																																																																																				0.517	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		35	47	0	0	0	0.003755	0	35	47				
SLC9A6	10479	broad.mit.edu	37	X	135095150	135095150	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:135095150A>G	ENST00000370698.3	+	8	1023	c.988A>G	c.(988-990)Aca>Gca	p.T330A	SLC9A6_ENST00000370701.1_Missense_Mutation_p.T310A|SLC9A6_ENST00000370695.4_Missense_Mutation_p.T362A	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	330					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GTTGTTGGAGACAGGCCTGTT	0.438																																							uc004ezj.2		NA																	0				ovary(1)	1						c.(988-990)ACA>GCA		solute carrier family 9 (sodium/hydrogen							257.0	216.0	230.0					X																	135095150		2203	4300	6503	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135095150A>G	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.988A>G	X.37:g.135095150A>G	ENSP00000359732:p.Thr330Ala					SLC9A6_uc004ezk.2_Missense_Mutation_p.T362A	p.T330A	NM_006359	NP_006350	Q92581	SL9A6_HUMAN			8	1064	+	Acute lymphoblastic leukemia(192;0.000127)		330					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.988A>G	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432478	0.83776	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.16457	2.34;2.34;2.34	5.81	5.81	0.92471	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	L	0.60904	1.88	0.80722	D	1	P;P	0.49862	0.929;0.774	P;P	0.53549	0.729;0.627	T	0.01496	-1.1340	10	0.48119	T	0.1	.	14.2313	0.65895	1.0:0.0:0.0:0.0	.	362;330	Q92581-2;Q92581	.;SL9A6_HUMAN	A	310;330;362	ENSP00000359735:T310A;ENSP00000359732:T330A;ENSP00000359729:T362A	ENSP00000359729:T362A	T	+	1	0	SLC9A6	134922816	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	8.962000	0.93254	1.959000	0.56917	0.481000	0.45027	ACA		0.438	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		72	134	0	0	0	0.00361	0	72	134				
SLITRK2	84631	broad.mit.edu	37	X	144904663	144904663	+	Silent	SNP	G	G	A			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:144904663G>A	ENST00000370490.1	+	1	4975	c.720G>A	c.(718-720)gaG>gaA	p.E240E	SLITRK2_ENST00000447897.2_Silent_p.E240E|SLITRK2_ENST00000434188.2_Silent_p.E240E|SLITRK2_ENST00000428560.2_Silent_p.E240E|SLITRK2_ENST00000413937.2_Silent_p.E240E			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	240	LRRCT 1.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTGGGAGAGATTGTCTGTG	0.488																																							uc004fcd.2		NA																	0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(718-720)GAG>GAA		SLIT and NTRK-like family, member 2 precursor							112.0	105.0	107.0					X																	144904663		2203	4300	6503	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144904663G>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.720G>A	X.37:g.144904663G>A						SLITRK2_uc010nsp.2_Silent_p.E240E|SLITRK2_uc010nso.2_Silent_p.E240E|SLITRK2_uc011mwq.1_Silent_p.E240E|SLITRK2_uc011mwr.1_Silent_p.E240E|SLITRK2_uc011mws.1_Silent_p.E240E|SLITRK2_uc004fcg.2_Silent_p.E240E|SLITRK2_uc011mwt.1_Silent_p.E240E	p.E240E	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	1710	+	Acute lymphoblastic leukemia(192;6.56e-05)		240			Extracellular (Potential).|LRRCT 1.		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.720G>A	CCDS14680.1																																																																																				0.488	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		42	85	0	0	0	0.006999	0	42	85				
SLITRK2	84631	broad.mit.edu	37	X	144905810	144905810	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chrX:144905810C>G	ENST00000370490.1	+	1	6122	c.1867C>G	c.(1867-1869)Ctg>Gtg	p.L623V	SLITRK2_ENST00000447897.2_Missense_Mutation_p.L623V|SLITRK2_ENST00000434188.2_Missense_Mutation_p.L623V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.L623V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.L623V			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	623					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCTTAATTCTGGGATTGCT	0.453																																							uc004fcd.2		NA																	0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(1867-1869)CTG>GTG		SLIT and NTRK-like family, member 2 precursor							115.0	83.0	94.0					X																	144905810		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144905810C>G	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1867C>G	X.37:g.144905810C>G	ENSP00000359521:p.Leu623Val					SLITRK2_uc010nsp.2_Missense_Mutation_p.L623V|SLITRK2_uc010nso.2_Missense_Mutation_p.L623V|SLITRK2_uc011mwq.1_Missense_Mutation_p.L623V|SLITRK2_uc011mwr.1_Missense_Mutation_p.L623V|SLITRK2_uc011mws.1_Missense_Mutation_p.L623V|SLITRK2_uc004fcg.2_Missense_Mutation_p.L623V|SLITRK2_uc011mwt.1_Missense_Mutation_p.L623V	p.L623V	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	2857	+	Acute lymphoblastic leukemia(192;6.56e-05)		623			Helical; (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.1867C>G	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719595	0.48728	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.59906	0.36;0.23;0.23;0.23;0.23;0.23	5.63	3.14	0.36123	.	0.000000	0.64402	D	0.000005	T	0.68430	0.3000	M	0.62723	1.935	0.47308	D	0.99938	D	0.89917	1.0	D	0.85130	0.997	T	0.67360	-0.5690	10	0.62326	D	0.03	-4.1366	7.1507	0.25608	0.0:0.1872:0.0:0.8128	.	623	Q9H156	SLIK2_HUMAN	V	623	ENSP00000334374:L623V;ENSP00000411681:L623V;ENSP00000359521:L623V;ENSP00000397015:L623V;ENSP00000407347:L623V;ENSP00000412010:L623V	ENSP00000334374:L623V	L	+	1	2	SLITRK2	144713502	0.992000	0.36948	1.000000	0.80357	0.938000	0.57974	1.354000	0.34056	0.756000	0.33013	-0.354000	0.07668	CTG		0.453	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		42	62	0	0	0	0.007835	0	42	62				
TMEM79	84283	broad.mit.edu	37	1	156255576	156255576	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr1:156255576delG	ENST00000405535.2	+	2	730	c.559delG	c.(559-561)gggfs	p.G188fs	SMG5_ENST00000368267.5_5'Flank|SMG5_ENST00000361813.5_5'Flank|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Frame_Shift_Del_p.G188fs|TMEM79_ENST00000357501.2_Intron	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	188					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CTGTTCCTGTGGGGGCTGCGG	0.667																																							uc010phi.1		NA																	0				central_nervous_system(1)	1						c.(559-561)GGGfs		transmembrane protein 79							43.0	50.0	48.0					1																	156255576		2202	4298	6500	SO:0001589	frameshift_variant	84283					integral to membrane		g.chr1:156255576delG	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.559delG	1.37:g.156255576delG	ENSP00000384748:p.Gly188fs					SMG5_uc001foc.3_5'Flank|TMEM79_uc001fod.2_Frame_Shift_Del_p.G28fs|TMEM79_uc009wrw.2_Frame_Shift_Del_p.G187fs	p.G187fs	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN			2	755	+	Hepatocellular(266;0.158)		187					B2RE22|D3DVB8	Frame_Shift_Del	DEL	ENST00000405535.2	37	c.559delG	CCDS1138.1																																																																																				0.667	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		36	90	NA	NA	NA	NA	NA	36	90	---	---	---	---
TP53AIP1	63970	broad.mit.edu	37	11	128807581	128807582	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr11:128807581_128807582delGT	ENST00000531399.1	-	2	341_342	c.132_133delAC	c.(130-135)acacctfs	p.P45fs	TP53AIP1_ENST00000458238.2_Frame_Shift_Del_p.P45fs|TP53AIP1_ENST00000530777.1_Frame_Shift_Del_p.P45fs|TP53AIP1_ENST00000602346.1_Frame_Shift_Del_p.P45fs	NM_022112.2	NP_071395.2	Q9HCN2	TPIP1_HUMAN	tumor protein p53 regulated apoptosis inducing protein 1	45					apoptotic process (GO:0006915)	mitochondrion (GO:0005739)				large_intestine(1)|lung(1)|skin(1)	3						ACCCAGCCAGGTGTGTGTGTCT	0.624																																							uc001qey.2		NA																	0				lung(1)	1						c.(130-135)ACACCTfs		RecName: Full=p53-regulated apoptosis-inducing protein 1;          Short=p53AIP1;																																				SO:0001589	frameshift_variant	63970				apoptosis	mitochondrion		g.chr11:128807581_128807582delGT	AB045831	CCDS8480.1, CCDS8480.2, CCDS55797.1, CCDS55798.1, CCDS58195.1	11q24.3	2011-01-26	2009-03-09		ENSG00000120471	ENSG00000120471			29984	protein-coding gene	gene with protein product		605426				11030628, 12019168	Standard	NM_022112		Approved	p53AIP1	uc021qsd.1	Q9HCN2		ENST00000531399.1:c.132_133delAC	11.37:g.128807589_128807590delGT	ENSP00000432743:p.Pro45fs					TP53AIP1_uc001qex.2_Frame_Shift_Del_p.T44fs|TP53AIP1_uc009zcm.1_RNA	p.T44fs			Q9HCN2	TPIP1_HUMAN			2	342_343	-			44_45					Q6NT40|Q7Z6F7|Q9HCN0|Q9HCN1	Frame_Shift_Del	DEL	ENST00000531399.1	37	c.132_133delAC	CCDS8480.2																																																																																				0.624	TP53AIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386244.1	NM_022112		8	58	NA	NA	NA	NA	NA	8	58	---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74411066	74411066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr3:74411066delC	ENST00000263665.6	-	10	1366	c.1339delG	c.(1339-1341)gatfs	p.D447fs		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	447	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACGCTCACATCCCCCTTCTTC	0.473																																							uc003dpm.1		NA																	0				breast(3)|ovary(1)|skin(1)	5						c.(1339-1341)GATfs		contactin 3 precursor							76.0	74.0	75.0					3																	74411066		2203	4300	6503	SO:0001589	frameshift_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74411066delC	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1339delG	3.37:g.74411066delC	ENSP00000263665:p.Asp447fs						p.D447fs	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	10	1419	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	447			Ig-like C2-type 5.		B9EK50|Q9H039	Frame_Shift_Del	DEL	ENST00000263665.6	37	c.1339delG	CCDS33790.1																																																																																				0.473	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		17	69	NA	NA	NA	NA	NA	17	69	---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr6:42196333delT	ENST00000372922.4	-	18	3915	c.3353delA	c.(3352-3354)aagfs	p.K1118fs	TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000541110.1_Frame_Shift_Del_p.K1138fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542																																							uc003osd.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(3352-3354)AAGfs		transcriptional regulating factor 1							245.0	274.0	264.0					6																	42196333		2203	4300	6503	SO:0001589	frameshift_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196333delT	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3353delA	6.37:g.42196333delT	ENSP00000362013:p.Lys1118fs					TRERF1_uc011duq.1_Frame_Shift_Del_p.K1035fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.K886fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.K874fs|TRERF1_uc003ose.2_Frame_Shift_Del_p.K1138fs	p.K1118fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	3916	-	Colorectal(47;0.196)		1118			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Del	DEL	ENST00000372922.4	37	c.3353delA	CCDS4867.1																																																																																				0.542	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		8	2246	NA	NA	NA	NA	NA	8	2246	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43305681	43305681	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr6:43305681delC	ENST00000361428.2	-	10	6132	c.6055delG	c.(6055-6057)gatfs	p.D2019fs	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2019					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ACAGGCATATCCCCCAGATTC	0.458																																							uc003oux.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(6055-6057)GATfs		zinc finger protein 318							104.0	97.0	99.0					6																	43305681		2203	4300	6503	SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305681delC	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6055delG	6.37:g.43305681delC	ENSP00000354964:p.Asp2019fs					ZNF318_uc003ouw.2_Intron	p.D2019fs	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6133	-			2019					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.6055delG	CCDS4895.2																																																																																				0.458	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		38	60	NA	NA	NA	NA	NA	38	60	---	---	---	---
CNR1	1268	broad.mit.edu	37	6	88853971	88853971	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr6:88853971delT	ENST00000537554.1	-	2	4585	c.1023delA	c.(1021-1023)ttafs	p.L341fs	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369501.2_Frame_Shift_Del_p.L341fs|CNR1_ENST00000468898.1_Frame_Shift_Del_p.L308fs|CNR1_ENST00000369499.2_Frame_Shift_Del_p.L341fs|CNR1_ENST00000549716.1_Frame_Shift_Del_p.L280fs|CNR1_ENST00000428600.2_Frame_Shift_Del_p.L341fs|CNR1_ENST00000535130.1_Frame_Shift_Del_p.L341fs|CNR1_ENST00000549890.1_Frame_Shift_Del_p.L341fs	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	341					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GGGTCTTGGCTAACCTAATGT	0.537																																							uc011dzq.1		NA																	0				skin(2)	2						c.(1021-1023)TTAfs		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						165.0	173.0	171.0					6																	88853971		2203	4300	6503	SO:0001589	frameshift_variant	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88853971delT	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1023delA	6.37:g.88853971delT	ENSP00000441046:p.Leu341fs					CNR1_uc010kbz.2_Frame_Shift_Del_p.L341fs|CNR1_uc011dzr.1_Frame_Shift_Del_p.L341fs|CNR1_uc011dzs.1_Frame_Shift_Del_p.L341fs|CNR1_uc003pmq.3_Frame_Shift_Del_p.L341fs|CNR1_uc011dzt.1_Frame_Shift_Del_p.L341fs|CNR1_uc010kca.2_Frame_Shift_Del_p.L308fs	p.L341fs	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4586	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	341			Cytoplasmic (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Frame_Shift_Del	DEL	ENST00000537554.1	37	c.1023delA	CCDS5015.1																																																																																				0.537	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			28	79	NA	NA	NA	NA	NA	28	79	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91632378	91632378	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7145-01A-11D-2036-08	TCGA-78-7145-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e8e2a385-20ef-48bf-a802-11a6a75f0d06	264c83bc-2e97-4cc6-8a96-d96db0bbf9c3	g.chr7:91632378delG	ENST00000359028.2	+	9	3408	c.3183delG	c.(3181-3183)atgfs	p.M1061fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.M1049fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.M1061fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1061					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAAAAATAATGGTGGAAGATA	0.338			T	BRAF	papillary thyroid																																		uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(3145-3147)ATGfs		A-kinase anchor protein 9 isoform 2							48.0	51.0	50.0					7																	91632378		2203	4299	6502	SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91632378delG	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.3183delG	7.37:g.91632378delG	ENSP00000351922:p.Met1061fs					AKAP9_uc003ule.2_Frame_Shift_Del_p.M1061fs|AKAP9_uc003ulf.2_Frame_Shift_Del_p.M1049fs|AKAP9_uc003uli.2_Frame_Shift_Del_p.M674fs	p.M1049fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	3372	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1061					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37	c.3147delG																																																																																					0.338	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		22	29	NA	NA	NA	NA	NA	22	29	---	---	---	---
