#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AJAP1	55966	broad.mit.edu	37	1	4832510	4832510	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:4832510C>T	ENST00000378191.4	+	4	1469	c.1088C>T	c.(1087-1089)gCa>gTa	p.A363V	AJAP1_ENST00000378190.3_Missense_Mutation_p.A363V	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	363	Targeting signals.				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)		TGCGTCAGGGCATCTGTGCCC	0.587																																						uc001alm.1		NA																	0				lung(1)	1						c.(1087-1089)GCA>GTA		adherens junction associated protein 1							72.0	64.0	67.0					1																	4832510		2203	4300	6503	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4832510C>T	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.1088C>T	1.37:g.4832510C>T	ENSP00000367433:p.Ala363Val					AJAP1_uc001aln.2_Missense_Mutation_p.A363V	p.A363V	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	4	1469	+	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)	363			Targeting signals.|Cytoplasmic (Potential).		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.1088C>T	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617678	0.46736	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.48201	0.82;0.82	5.12	5.12	0.69794	.	0.161546	0.53938	D	0.000060	T	0.33381	0.0861	N	0.14661	0.345	0.48571	D	0.999676	P	0.40180	0.705	B	0.38500	0.275	T	0.12426	-1.0548	10	0.27082	T	0.32	-22.3295	17.1126	0.86680	0.0:1.0:0.0:0.0	.	363	Q9UKB5	AJAP1_HUMAN	V	363	ENSP00000367432:A363V;ENSP00000367433:A363V	ENSP00000367432:A363V	A	+	2	0	AJAP1	4732370	1.000000	0.71417	0.268000	0.24571	0.012000	0.07955	7.296000	0.78790	2.380000	0.81148	0.561000	0.74099	GCA		0.587	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		7	52	0	0	0	0	7	52				
PRAMEF12	390999	broad.mit.edu	37	1	12835290	12835290	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:12835290C>T	ENST00000357726.4	+	1	307	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	94					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(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGAAGGTTCGCCCCAGGTG	0.592																																						uc001aui.2		NA																	0				ovary(3)	3						c.(280-282)CGC>TGC		PRAME family member 12							68.0	71.0	70.0					1																	12835290		2199	4300	6499	SO:0001583	missense	390999							g.chr1:12835290C>T		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.280C>T	1.37:g.12835290C>T	ENSP00000350358:p.Arg94Cys						p.R94C	NM_001080830	NP_001074299	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	307	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	94						Missense_Mutation	SNP	ENST00000357726.4	37	c.280C>T	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	11.22	1.573175	0.28092	.	.	ENSG00000116726	ENST00000357726	T	0.05025	3.51	2.68	-0.996	0.10218	.	1.295630	0.05186	N	0.502232	T	0.07908	0.0198	M	0.67569	2.06	0.09310	N	1	B	0.32409	0.37	B	0.28232	0.087	T	0.38308	-0.9667	10	0.33141	T	0.24	.	5.18	0.15156	0.0:0.4591:0.3937:0.1472	.	94	O95522	PRA12_HUMAN	C	94	ENSP00000350358:R94C	ENSP00000350358:R94C	R	+	1	0	PRAMEF12	12757877	0.003000	0.15002	0.010000	0.14722	0.449000	0.32228	0.333000	0.19768	-0.202000	0.10268	0.195000	0.17529	CGC		0.592	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		34	94	0	0	0	0	34	94				
PADI3	51702	broad.mit.edu	37	1	17603133	17603133	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:17603133G>T	ENST00000375460.3	+	12	1467	c.1427G>T	c.(1426-1428)aGc>aTc	p.S476I	MIR3972_ENST00000582732.1_RNA	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	476					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GAGTTTCTGAGCTTTGTCCCT	0.607																																						uc001bai.2		NA																	0				ovary(1)|breast(1)	2						c.(1426-1428)AGC>ATC		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						132.0	116.0	122.0					1																	17603133		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17603133G>T	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1427G>T	1.37:g.17603133G>T	ENSP00000364609:p.Ser476Ile						p.S476I	NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	12	1467	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	476					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.1427G>T	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168235	0.78339	.	.	ENSG00000142619	ENST00000375460	T	0.27402	1.67	5.52	5.52	0.82312	Protein-arginine deiminase, C-terminal (1);	0.149542	0.64402	D	0.000017	T	0.57725	0.2073	M	0.85041	2.73	0.43187	D	0.995014	D	0.69078	0.997	D	0.66497	0.944	T	0.62613	-0.6817	10	0.66056	D	0.02	-32.2598	14.0362	0.64646	0.0:0.1513:0.8487:0.0	.	476	Q9ULW8	PADI3_HUMAN	I	476	ENSP00000364609:S476I	ENSP00000364609:S476I	S	+	2	0	PADI3	17475720	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.181000	0.42547	2.754000	0.94517	0.650000	0.86243	AGC		0.607	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			11	124	1	0	2.81e-09	3.07e-09	11	124				
RAP1GAP	5909	broad.mit.edu	37	1	21928278	21928278	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:21928278C>T	ENST00000374765.4	-	20	1751	c.1551G>A	c.(1549-1551)ccG>ccA	p.P517P	RAP1GAP_ENST00000290101.4_Silent_p.P581P|RAP1GAP_ENST00000542643.2_Silent_p.P543P|RAP1GAP_ENST00000374763.2_Silent_p.P602P|RAP1GAP_ENST00000374761.2_Silent_p.P548P	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	517					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TCTGACCAGCCGGAGGGCTCT	0.667																																						uc001bex.2		NA																	0				breast(2)|ovary(1)	3						c.(1549-1551)CCG>CCA		RAP1 GTPase activating protein isoform c							48.0	46.0	46.0					1																	21928278		2203	4300	6503	SO:0001819	synonymous_variant	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21928278C>T	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1551G>A	1.37:g.21928278C>T						RAP1GAP_uc001bev.2_Silent_p.P602P|RAP1GAP_uc001bew.2_Silent_p.P581P|RAP1GAP_uc001bey.2_Silent_p.P543P	p.P517P	NM_002885	NP_002876	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	20	1809	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	517					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	37	c.1551G>A	CCDS218.1																																																																																				0.667	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		26	41	0	0	0	0	26	41				
SRSF4	6429	broad.mit.edu	37	1	29475408	29475408	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:29475408C>T	ENST00000373795.4	-	6	1233	c.999G>A	c.(997-999)cgG>cgA	p.R333R	SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR|RP11-242O24.3_ENST00000413004.1_lincRNA	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	333	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						tgctcctgctccggctccgac	0.647																																						uc001bro.2		NA																	0					0						c.(997-999)CGG>CGA		splicing factor, arginine/serine-rich 4							34.0	34.0	34.0					1																	29475408		2202	4300	6502	SO:0001819	synonymous_variant	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475408C>T	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.999G>A	1.37:g.29475408C>T						SFRS4_uc010ofy.1_3'UTR	p.R333R	NM_005626	NP_005617	Q08170	SRSF4_HUMAN		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)	6	1372	-		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)	333			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	Silent	SNP	ENST00000373795.4	37	c.999G>A	CCDS333.1																																																																																				0.647	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		3	41	0	0	0	0	3	41				
EPS15	2060	broad.mit.edu	37	1	51822456	51822456	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:51822456C>G	ENST00000371733.3	-	25	2703	c.2607G>C	c.(2605-2607)caG>caC	p.Q869H	EPS15_ENST00000396122.4_Missense_Mutation_p.Q546H|EPS15_ENST00000371730.2_Missense_Mutation_p.Q735H	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	869					cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GGGCAAGCCTCTGCTCTTCCT	0.413			T	MLL	ALL																																	uc001csq.1		NA		Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		2	Whole gene deletion(2)		thyroid(1)|central_nervous_system(1)	lung(1)|kidney(1)	2						c.(2605-2607)CAG>CAC		epidermal growth factor receptor pathway							124.0	110.0	115.0					1																	51822456		2203	4300	6503	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51822456C>G	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.2607G>C	1.37:g.51822456C>G	ENSP00000360798:p.Gln869His					EPS15_uc009vyz.1_Missense_Mutation_p.Q735H|EPS15_uc001csp.3_Missense_Mutation_p.Q555H	p.Q869H	NM_001981	NP_001972	P42566	EPS15_HUMAN			25	2699	-			869			UIM 1.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.2607G>C	CCDS557.1	.	.	.	.	.	.	.	.	.	.	C	7.082	0.570462	0.13560	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.42900	0.96;0.96;0.96	5.86	1.96	0.26148	Ubiquitin interacting motif (2);	.	.	.	.	T	0.40247	0.1109	N	0.22421	0.69	0.33137	D	0.543851	B;P;P	0.49783	0.412;0.928;0.928	B;P;P	0.54312	0.188;0.748;0.73	T	0.53129	-0.8482	9	0.72032	D	0.01	.	9.6829	0.40080	0.0:0.6442:0.0:0.3558	.	735;869;555	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	H	735;869;546	ENSP00000360795:Q735H;ENSP00000360798:Q869H;ENSP00000379428:Q546H	ENSP00000360795:Q735H	Q	-	3	2	EPS15	51595044	0.998000	0.40836	0.975000	0.42487	0.004000	0.04260	0.545000	0.23268	0.393000	0.25203	0.655000	0.94253	CAG		0.413	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		32	87	0	0	0	0	32	87				
ZYG11B	79699	broad.mit.edu	37	1	53222179	53222179	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:53222179C>T	ENST00000294353.6	+	2	225	c.80C>T	c.(79-81)aCt>aTt	p.T27I	RNU2-30P_ENST00000516209.1_RNA|ZYG11B_ENST00000443756.2_Missense_Mutation_p.T27I|ZYG11B_ENST00000545132.1_Missense_Mutation_p.T27I	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	27										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AATTTCTTGACTACTCACCTT	0.453																																						uc001cuj.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(79-81)ACT>ATT		zyg-11 homolog B							139.0	134.0	136.0					1																	53222179		2203	4300	6503	SO:0001583	missense	79699						protein binding	g.chr1:53222179C>T	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.80C>T	1.37:g.53222179C>T	ENSP00000294353:p.Thr27Ile					ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.T18I	p.T27I	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN			2	275	+			27					Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	c.80C>T	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	C	8.397	0.841145	0.16891	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T	0.41400	1.0;1.01	4.89	4.89	0.63831	.	0.050014	0.85682	D	0.000000	T	0.17662	0.0424	N	0.02539	-0.55	0.35747	D	0.819108	B;B	0.18013	0.025;0.0	B;B	0.14023	0.01;0.001	T	0.18147	-1.0346	10	0.08381	T	0.77	.	13.9338	0.64012	0.0:0.848:0.152:0.0	.	27;27	B4DK95;Q9C0D3	.;ZY11B_HUMAN	I	27	ENSP00000441315:T27I;ENSP00000294353:T27I	ENSP00000294353:T27I	T	+	2	0	ZYG11B	52994767	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.681000	0.46926	2.549000	0.85964	0.650000	0.86243	ACT		0.453	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		17	152	0	0	0	0	17	152				
ODF2L	57489	broad.mit.edu	37	1	86852648	86852648	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:86852648T>C	ENST00000359242.3	-	2	344	c.63A>G	c.(61-63)atA>atG	p.I21M	ODF2L_ENST00000294678.2_Missense_Mutation_p.I21M|ODF2L_ENST00000486215.1_Missense_Mutation_p.I21M|ODF2L_ENST00000370567.1_Missense_Mutation_p.I21M|ODF2L_ENST00000394731.1_De_novo_Start_OutOfFrame|ODF2L_ENST00000478286.2_Missense_Mutation_p.I21M|ODF2L_ENST00000370566.3_Missense_Mutation_p.I21M|ODF2L_ENST00000317336.7_Missense_Mutation_p.I21M	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	21						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CTTTCTCTGATATAGTTTTAA	0.378																																						uc001dll.1		NA																	0				ovary(1)	1						c.(61-63)ATA>ATG		outer dense fiber of sperm tails 2-like isoform							114.0	123.0	120.0					1																	86852648		2203	4300	6503	SO:0001583	missense	57489					centrosome		g.chr1:86852648T>C		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.63A>G	1.37:g.86852648T>C	ENSP00000359600:p.Ile21Met					ODF2L_uc001dlm.1_Missense_Mutation_p.I21M|ODF2L_uc001dln.2_Missense_Mutation_p.I21M|ODF2L_uc001dlo.2_Translation_Start_Site|ODF2L_uc001dlp.2_Missense_Mutation_p.I21M|ODF2L_uc010osg.1_Missense_Mutation_p.I21M|ODF2L_uc001dlq.1_Intron|ODF2L_uc009wcr.1_Intron	p.I21M	NM_020729	NP_065780	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	2	403	-			21					A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	37	c.63A>G	CCDS41354.2	.	.	.	.	.	.	.	.	.	.	T	8.113	0.779129	0.16120	.	.	ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000317336;ENST00000370567;ENST00000294678;ENST00000465959;ENST00000478286;ENST00000486215	T;T;T;T;T	0.24151	1.87;1.88;1.89;1.9;1.89	4.84	0.615	0.17608	.	1.318770	0.04942	N	0.458754	T	0.06050	0.0157	N	0.22421	0.69	0.09310	N	0.999998	B;B;B;P;P	0.42757	0.086;0.032;0.019;0.613;0.789	B;B;B;B;B	0.35688	0.089;0.009;0.013;0.159;0.208	T	0.28396	-1.0045	10	0.45353	T	0.12	4.0199	7.7492	0.28888	0.4997:0.0:0.0:0.5003	.	21;21;21;21;21	B4E037;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.;.;.;.;ODF2L_HUMAN	M	21	ENSP00000359597:I21M;ENSP00000359600:I21M;ENSP00000320165:I21M;ENSP00000359598:I21M;ENSP00000294678:I21M	ENSP00000294678:I21M	I	-	3	3	ODF2L	86625236	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.362000	0.07602	0.231000	0.21079	0.455000	0.32223	ATA		0.378	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			22	131	0	0	0	0	22	131				
PIAS3	10401	broad.mit.edu	37	1	145581474	145581474	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:145581474C>G	ENST00000393045.2	+	9	1145	c.1055C>G	c.(1054-1056)gCc>gGc	p.A352G	PIAS3_ENST00000369298.1_Missense_Mutation_p.A317G	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	352					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCGATGCTGCCCTTTATCTA	0.517																																						uc001eoc.1		NA																	0				ovary(1)	1						c.(1054-1056)GCC>GGC		protein inhibitor of activated STAT, 3							154.0	142.0	146.0					1																	145581474		2203	4300	6503	SO:0001583	missense	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145581474C>G	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1055C>G	1.37:g.145581474C>G	ENSP00000376765:p.Ala352Gly					NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_Missense_Mutation_p.A21G	p.A352G	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN			9	1146	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		352			SP-RING-type.		Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.1055C>G	CCDS920.2	.	.	.	.	.	.	.	.	.	.	c	34	5.307611	0.95629	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.32272	1.46;1.46	5.86	5.86	0.93980	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, MIZ-type (2);	0.000000	0.64402	D	0.000013	T	0.23727	0.0574	N	0.13043	0.29	0.80722	D	1	P	0.51147	0.942	P	0.53549	0.729	T	0.07139	-1.0788	10	0.87932	D	0	-18.9497	17.6844	0.88253	0.0:1.0:0.0:0.0	.	352	Q9Y6X2	PIAS3_HUMAN	G	352;317	ENSP00000376765:A352G;ENSP00000358304:A317G	ENSP00000358304:A317G	A	+	2	0	PIAS3	144292831	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.086000	0.71352	2.769000	0.95229	0.651000	0.88453	GCC		0.517	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		23	141	0	0	0	0	23	141				
ARNT	405	broad.mit.edu	37	1	150784502	150784502	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:150784502C>T	ENST00000358595.5	-	22	2565	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K	ARNT_ENST00000505755.1_Missense_Mutation_p.E774K|RNU6-1309P_ENST00000363305.1_RNA|ARNT_ENST00000515192.1_Missense_Mutation_p.E775K|ARNT_ENST00000354396.2_Missense_Mutation_p.E787K	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	789					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TAGTTCTATTCTGAAAAGGGG	0.393			T	ETV6	AML																																	uc001evr.1		NA		Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				skin(4)|lung(3)|central_nervous_system(1)|kidney(1)	9						c.(2365-2367)GAA>AAA		aryl hydrocarbon receptor nuclear translocator							67.0	67.0	67.0					1																	150784502		2203	4300	6503	SO:0001583	missense	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150784502C>T	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.2365G>A	1.37:g.150784502C>T	ENSP00000351407:p.Glu789Lys					ARNT_uc010pck.1_Missense_Mutation_p.E277K|ARNT_uc001evs.1_Missense_Mutation_p.E774K|ARNT_uc009wmb.1_Missense_Mutation_p.E775K|ARNT_uc009wmc.1_Missense_Mutation_p.E787K|ARNT_uc009wmd.1_Missense_Mutation_p.E773K	p.E789K	NM_001668	NP_001659	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		22	2508	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		789					B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.2365G>A	CCDS970.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504332	0.85176	.	.	ENSG00000143437	ENST00000358595;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.14144	2.62;2.69;2.61;2.53	5.2	5.2	0.72013	.	0.055211	0.64402	D	0.000001	T	0.31040	0.0784	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.999;0.999;0.999;0.995	D;D;D;D;P	0.75484	0.985;0.986;0.986;0.986;0.826	T	0.07751	-1.0756	10	0.87932	D	0	.	18.7458	0.91792	0.0:1.0:0.0:0.0	.	773;787;775;774;789	A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;ARNT_HUMAN	K	789;787;775;740;774	ENSP00000351407:E789K;ENSP00000346372:E787K;ENSP00000423851:E775K;ENSP00000427571:E774K	ENSP00000346372:E787K	E	-	1	0	ARNT	149051126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.250000	0.65432	2.441000	0.82636	0.655000	0.94253	GAA		0.393	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			16	84	0	0	0	0	16	84				
VANGL2	57216	broad.mit.edu	37	1	160394043	160394043	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:160394043A>T	ENST00000368061.2	+	7	1749	c.1275A>T	c.(1273-1275)gaA>gaT	p.E425D		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	425					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCACCTTGAATTCTGCATCA	0.567																																						uc001fwb.1		NA																	0				ovary(1)	1						c.(1273-1275)GAA>GAT		vang-like 2																																				SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160394043A>T	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1275A>T	1.37:g.160394043A>T	ENSP00000357040:p.Glu425Asp					VANGL2_uc001fwc.1_Missense_Mutation_p.E425D	p.E425D	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		8	1574	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		425			Cytoplasmic (Potential).		D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.1275A>T	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187806	0.57909	.	.	ENSG00000162738	ENST00000368061	T	0.80480	-1.38	4.14	-4.52	0.03472	.	0.065140	0.64402	D	0.000010	T	0.41971	0.1182	N	0.14661	0.345	0.44539	D	0.997495	B	0.33000	0.393	B	0.31495	0.131	T	0.23048	-1.0199	10	0.72032	D	0.01	-25.3569	6.9397	0.24486	0.4709:0.116:0.4131:0.0	.	425	Q9ULK5	VANG2_HUMAN	D	425	ENSP00000357040:E425D	ENSP00000357040:E425D	E	+	3	2	VANGL2	158660667	0.000000	0.05858	0.646000	0.29493	0.891000	0.51852	-0.645000	0.05409	-0.736000	0.04831	-0.441000	0.05720	GAA		0.567	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		17	42	0	0	0	0	17	42				
BRINP3	339479	broad.mit.edu	37	1	190068182	190068182	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:190068182T>A	ENST00000367462.3	-	8	1498	c.1267A>T	c.(1267-1269)Acg>Tcg	p.T423S	BRINP3_ENST00000534846.1_Missense_Mutation_p.T321S	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	423					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CACGAGTGCGTCTCTTCTGAA	0.542																																						uc001gse.1		NA																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1267-1269)ACG>TCG		family with sequence similarity 5, member C							50.0	40.0	43.0					1																	190068182		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190068182T>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1267A>T	1.37:g.190068182T>A	ENSP00000356432:p.Thr423Ser					FAM5C_uc010pot.1_Missense_Mutation_p.T321S	p.T423S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1499	-	Prostate(682;0.198)		423					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1267A>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	9.969	1.224951	0.22457	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.40756	1.02;1.02	5.65	5.65	0.86999	.	0.114994	0.64402	D	0.000011	T	0.20740	0.0499	N	0.04508	-0.205	0.35320	D	0.784695	P;B	0.35612	0.512;0.378	B;B	0.35353	0.201;0.099	T	0.28586	-1.0039	10	0.08837	T	0.75	.	13.8296	0.63373	0.0:0.0:0.0:1.0	.	321;423	B7Z260;Q76B58	.;FAM5C_HUMAN	S	423;321	ENSP00000356432:T423S;ENSP00000438022:T321S	ENSP00000356432:T423S	T	-	1	0	FAM5C	188334805	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.234000	0.58658	2.146000	0.66826	0.482000	0.46254	ACG		0.542	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		11	34	0	0	0	0	11	34				
ASPM	259266	broad.mit.edu	37	1	197074167	197074167	+	Missense_Mutation	SNP	C	C	T	rs143092798		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:197074167C>T	ENST00000367409.4	-	18	4470	c.4214G>A	c.(4213-4215)cGt>cAt	p.R1405H	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1405	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.R1405L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAAATAAGCACGCCAATGCCT	0.313																																						uc001gtu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(4213-4215)CGT>CAT		asp (abnormal spindle)-like, microcephaly		C	,HIS/ARG	0,4406		0,0,2203	112.0	106.0	108.0		,4214	5.2	1.0	1	dbSNP_134	108	1,8593	1.2+/-3.3	0,1,4296	no	intron,missense	ASPM	NM_001206846.1,NM_018136.4	,29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging	,1405/3478	197074167	1,12999	2203	4297	6500	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197074167C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4214G>A	1.37:g.197074167C>T	ENSP00000356379:p.Arg1405His					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.R1405H	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	4471	-			1405			IQ 2.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.4214G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.542903	0.65198	0.0	1.16E-4	ENSG00000066279	ENST00000367409	T	0.77098	-1.07	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.89051	0.6605	M	0.84846	2.72	0.80722	D	1	D	0.65815	0.995	D	0.67103	0.949	D	0.90581	0.4529	10	0.87932	D	0	.	18.1877	0.89797	0.0:1.0:0.0:0.0	.	1405	Q8IZT6	ASPM_HUMAN	H	1405	ENSP00000356379:R1405H	ENSP00000356379:R1405H	R	-	2	0	ASPM	195340790	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	4.781000	0.62389	2.616000	0.88540	0.650000	0.86243	CGT		0.313	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		25	116	0	0	0	0	25	116				
CD34	947	broad.mit.edu	37	1	208084367	208084367	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:208084367A>G	ENST00000310833.7	-	1	380	c.59T>C	c.(58-60)cTt>cCt	p.L20P	CD34_ENST00000537704.1_5'UTR|CD34_ENST00000356522.4_Missense_Mutation_p.L20P	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	20					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CAGCAAGCAAAGCGCGGTCCA	0.711																																						uc001hgw.1		NA																	0				ovary(1)	1						c.(58-60)CTT>CCT		CD34 antigen isoform a							6.0	9.0	8.0					1																	208084367		2134	4178	6312	SO:0001583	missense	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208084367A>G	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.59T>C	1.37:g.208084367A>G	ENSP00000310036:p.Leu20Pro					CD34_uc001hgx.1_Missense_Mutation_p.L20P|CD34_uc010psj.1_5'UTR	p.L20P	NM_001025109	NP_001020280	P28906	CD34_HUMAN			1	317	-			20					A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	c.59T>C	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.594110	0.66219	.	.	ENSG00000174059	ENST00000310833;ENST00000356522	T;T	0.12879	2.64;2.64	4.61	3.46	0.39613	.	0.583506	0.16788	N	0.199496	T	0.29588	0.0738	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.72075	0.976;0.909	T	0.01252	-1.1405	10	0.87932	D	0	-0.0866	8.2357	0.31625	0.798:0.202:0.0:0.0	.	20;20	P28906-2;P28906	.;CD34_HUMAN	P	20	ENSP00000310036:L20P;ENSP00000348916:L20P	ENSP00000310036:L20P	L	-	2	0	CD34	206150990	0.997000	0.39634	0.978000	0.43139	0.862000	0.49288	2.298000	0.43602	0.784000	0.33661	0.254000	0.18369	CTT		0.711	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		4	11	0	0	0	0	4	11				
TMEM206	55248	broad.mit.edu	37	1	212560368	212560368	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:212560368G>A	ENST00000261455.4	-	3	345	c.208C>T	c.(208-210)Ctc>Ttc	p.L70F	TMEM206_ENST00000471937.1_5'UTR|TMEM206_ENST00000535273.1_Missense_Mutation_p.L131F	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	70						cell surface (GO:0009986)|integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		ATGAAGATGAGTAGGACCGAG	0.542																																						uc001hjc.3		NA																	0				breast(1)	1						c.(208-210)CTC>TTC		transmembrane protein 206							157.0	128.0	138.0					1																	212560368		2203	4300	6503	SO:0001583	missense	55248					integral to membrane		g.chr1:212560368G>A	AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.208C>T	1.37:g.212560368G>A	ENSP00000261455:p.Leu70Phe					TMEM206_uc010pte.1_Missense_Mutation_p.L131F	p.L70F	NM_018252	NP_060722	Q9H813	TM206_HUMAN		all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)	3	376	-			70			Helical; (Potential).		B7Z4D6|Q6IA87|Q9NV85	Missense_Mutation	SNP	ENST00000261455.4	37	c.208C>T	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616234	0.87359	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.11	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.64516	0.2605	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.67233	-0.5722	9	0.87932	D	0	-20.1116	12.3289	0.55028	0.1177:0.0:0.8823:0.0	.	131;70	B7Z4D6;Q9H813	.;TM206_HUMAN	F	70;131	.	ENSP00000261455:L70F	L	-	1	0	TMEM206	210626991	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.311000	0.72835	2.533000	0.85409	0.650000	0.86243	CTC		0.542	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252		22	93	0	0	0	0	22	93				
NLRP3	114548	broad.mit.edu	37	1	247608112	247608112	+	Silent	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:247608112G>C	ENST00000336119.3	+	8	3746	c.3000G>C	c.(2998-3000)ctG>ctC	p.L1000L	NLRP3_ENST00000366497.2_Silent_p.L943L|NLRP3_ENST00000366496.2_Silent_p.L943L|NLRP3_ENST00000391828.3_Silent_p.L1000L|NLRP3_ENST00000348069.2_Silent_p.L886L|NLRP3_ENST00000391827.2_Silent_p.L943L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	1000					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCTGCCTCCTGCAGAACCTGG	0.562																																						uc001icr.2		NA																	0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2998-3000)CTG>CTC		NLR family, pyrin domain containing 3 isoform a							48.0	43.0	44.0					1																	247608112		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247608112G>C	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.3000G>C	1.37:g.247608112G>C						NLRP3_uc001ics.2_Silent_p.L943L|NLRP3_uc001icu.2_Silent_p.L1000L|NLRP3_uc001icw.2_Silent_p.L943L|NLRP3_uc001icv.2_Silent_p.L886L|NLRP3_uc010pyw.1_Silent_p.L978L	p.L1000L	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		10	3138	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	1000					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.3000G>C	CCDS1632.1																																																																																				0.562	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		12	65	0	0	0	0	12	65				
OR13G1	441933	broad.mit.edu	37	1	247836069	247836069	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:247836069G>C	ENST00000359688.2	-	1	296	c.275C>G	c.(274-276)gCa>gGa	p.A92G	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATGCAGCCTGCATATGAAAT	0.483																																						uc001idi.1		NA																	0				skin(1)	1						c.(274-276)GCA>GGA		olfactory receptor, family 13, subfamily G,							82.0	65.0	70.0					1																	247836069		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247836069G>C	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.275C>G	1.37:g.247836069G>C	ENSP00000352717:p.Ala92Gly						p.A92G	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	275	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		92			Extracellular (Potential).		B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.275C>G	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	G	0.426	-0.905919	0.02453	.	.	ENSG00000197437	ENST00000359688	T	0.00402	7.56	4.2	-8.4	0.00965	GPCR, rhodopsin-like superfamily (1);	1.248630	0.05847	N	0.620444	T	0.00178	0.0005	N	0.21617	0.685	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38802	-0.9644	10	0.19590	T	0.45	-2.0433	1.5466	0.02566	0.1847:0.1273:0.3163:0.3717	.	92	Q8NGZ3	O13G1_HUMAN	G	92	ENSP00000352717:A92G	ENSP00000352717:A92G	A	-	2	0	OR13G1	245902692	0.000000	0.05858	0.000000	0.03702	0.253000	0.25986	-2.940000	0.00683	-1.842000	0.01181	-0.300000	0.09419	GCA		0.483	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		6	56	0	0	0	0	6	56				
ZNF672	79894	broad.mit.edu	37	1	249142664	249142664	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:249142664C>T	ENST00000306562.3	+	4	1937	c.1191C>T	c.(1189-1191)tgC>tgT	p.C397C		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CAGCGGAGTGCGCAGAGTGCG	0.677																																						uc001iex.2		NA																	0					0						c.(1189-1191)TGC>TGT		zinc finger protein 672							18.0	18.0	18.0					1																	249142664		2196	4296	6492	SO:0001819	synonymous_variant	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249142664C>T	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.1191C>T	1.37:g.249142664C>T							p.C397C	NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	1886	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	397			C2H2-type 14.		Q96H65|Q96IM3|Q9H6G5	Silent	SNP	ENST00000306562.3	37	c.1191C>T	CCDS1638.1																																																																																				0.677	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	NM_024836		3	14	0	0	0	0	3	14				
ANKRD26	22852	broad.mit.edu	37	10	27324102	27324102	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr10:27324102C>T	ENST00000376087.4	-	24	3442	c.3277G>A	c.(3277-3279)Ggt>Agt	p.G1093S	ANKRD26_ENST00000436985.2_Missense_Mutation_p.G1109S|ANKRD26_ENST00000376070.3_Missense_Mutation_p.G650S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1092					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CGTTCTAAACCCAAAGTCTTT	0.348																																						uc001ith.2		NA																	0				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(3274-3276)GGT>AGT		ankyrin repeat domain 26							131.0	126.0	128.0					10																	27324102		1839	4095	5934	SO:0001583	missense	22852					centrosome		g.chr10:27324102C>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3277G>A	10.37:g.27324102C>T	ENSP00000365255:p.Gly1093Ser					ANKRD26_uc001itg.2_Missense_Mutation_p.G779S|ANKRD26_uc009xku.1_Missense_Mutation_p.G1093S	p.G1092S	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			24	3446	-			1092			Potential.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.3274G>A	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	c	15.14	2.745450	0.49151	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.13196	2.61;2.61;2.61	5.43	-3.67	0.04476	.	1.857510	0.03288	N	0.187217	T	0.04363	0.0120	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.28933	0.228;0.146;0.008	B;B;B	0.24394	0.053;0.024;0.002	T	0.24835	-1.0149	10	0.21014	T	0.42	.	3.5585	0.07873	0.1155:0.2455:0.1134:0.5256	.	1093;1092;1109	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	S	650;1093;1109	ENSP00000365238:G650S;ENSP00000365255:G1093S;ENSP00000405112:G1109S	ENSP00000365238:G650S	G	-	1	0	ANKRD26	27364108	0.005000	0.15991	0.000000	0.03702	0.915000	0.54546	0.243000	0.18106	-0.525000	0.06391	-0.188000	0.12872	GGT		0.348	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			17	226	0	0	0	0	17	226				
SVIL	6840	broad.mit.edu	37	10	29776096	29776096	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr10:29776096G>A	ENST00000355867.4	-	24	5233	c.4481C>T	c.(4480-4482)gCg>gTg	p.A1494V	SVIL_ENST00000538146.1_Missense_Mutation_p.A286V|SVIL_ENST00000375398.2_Missense_Mutation_p.A1494V|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.A1068V|SVIL_ENST00000535393.1_Missense_Mutation_p.A408V	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1494	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACCAACCTTCGCCTTTTCTAT	0.502																																						uc001iut.1		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(4480-4482)GCG>GTG		supervillin isoform 2							79.0	74.0	75.0					10																	29776096		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29776096G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4481C>T	10.37:g.29776096G>A	ENSP00000348128:p.Ala1494Val					LOC387647_uc001iuq.1_RNA|SVIL_uc010qdw.1_Missense_Mutation_p.A408V|SVIL_uc001iuu.1_Missense_Mutation_p.A1068V|SVIL_uc009xlc.2_Missense_Mutation_p.A286V	p.A1494V	NM_021738	NP_068506	O95425	SVIL_HUMAN			24	5234	-		Breast(68;0.103)	1494			Gelsolin-like 1.|Interaction with NEB.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.4481C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331630	0.81690	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	4.45	4.45	0.53987	Gelsolin domain (1);	0.103328	0.64402	D	0.000003	T	0.67353	0.2884	L	0.56340	1.77	0.54753	D	0.999983	D;P;P;D	0.76494	0.999;0.927;0.943;0.995	D;P;P;P	0.66847	0.947;0.524;0.576;0.832	T	0.70303	-0.4909	10	0.56958	D	0.05	-20.6253	17.366	0.87364	0.0:0.0:1.0:0.0	.	408;286;1068;1494	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	V	1068;1494;1494;408;448;286	ENSP00000364549:A1068V;ENSP00000364547:A1494V;ENSP00000348128:A1494V;ENSP00000445472:A408V;ENSP00000440343:A286V	ENSP00000348128:A1494V	A	-	2	0	SVIL	29816102	1.000000	0.71417	0.985000	0.45067	0.789000	0.44602	4.251000	0.58778	2.315000	0.78130	0.485000	0.47835	GCG		0.502	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			6	29	0	0	0	0	6	29				
MMRN2	79812	broad.mit.edu	37	10	88696664	88696664	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr10:88696664G>A	ENST00000372027.5	-	7	3007	c.2686C>T	c.(2686-2688)Cca>Tca	p.P896S		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	896	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GTACAGACTGGAGTCCGATGG	0.597																																						uc001kea.2		NA																	0				large_intestine(1)	1						c.(2686-2688)CCA>TCA		multimerin 2 precursor							142.0	140.0	141.0					10																	88696664		2203	4300	6503	SO:0001583	missense	79812					extracellular space		g.chr10:88696664G>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.2686C>T	10.37:g.88696664G>A	ENSP00000361097:p.Pro896Ser					MMRN2_uc010qmn.1_Missense_Mutation_p.P539S	p.P896S	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN			7	2813	-			896			C1q.		Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.2686C>T	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	G	0.070	-1.205097	0.01568	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.72942	-0.7	4.87	1.38	0.22167	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.256775	0.27725	N	0.018112	T	0.55768	0.1941	L	0.41236	1.265	0.09310	N	1	P;B	0.34934	0.476;0.127	B;B	0.36378	0.223;0.086	T	0.40683	-0.9550	10	0.20519	T	0.43	-10.1325	7.5592	0.27841	0.1743:0.1398:0.6859:0.0	.	674;896	E7EN39;Q9H8L6	.;MMRN2_HUMAN	S	896;674	ENSP00000361097:P896S	ENSP00000361097:P896S	P	-	1	0	MMRN2	88686644	0.672000	0.27530	0.102000	0.21198	0.049000	0.14656	0.645000	0.24782	0.455000	0.26910	-0.259000	0.10710	CCA		0.597	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		29	275	0	0	0	0	29	275				
FFAR4	338557	broad.mit.edu	37	10	95326706	95326706	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr10:95326706C>A	ENST00000371483.4	+	1	285	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	FFAR4_ENST00000604414.1_Missense_Mutation_p.L77M|FFAR4_ENST00000371481.4_Missense_Mutation_p.L77M	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	77					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										GACTGCCTGCCTGGTACTCAA	0.677																																						uc010qnt.1		NA																	0					0						c.(229-231)CTG>ATG		G protein-coupled receptor 120							44.0	43.0	43.0					10																	95326706		2203	4297	6500	SO:0001583	missense	338557				negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding	g.chr10:95326706C>A		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"""GPCR / Class A : Fatty acid receptors"""	19061	protein-coding gene	gene with protein product		609044	"""G protein-coupled receptor 129"", ""G protein-coupled receptor 120"", ""omega-3 fatty acid receptor 1"""	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.229C>A	10.37:g.95326706C>A	ENSP00000360538:p.Leu77Met					GPR120_uc010qnu.1_Missense_Mutation_p.L77M	p.L77M	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN			1	285	+		Colorectal(252;0.122)	77			Cytoplasmic (Potential).		Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Missense_Mutation	SNP	ENST00000371483.4	37	c.229C>A	CCDS31248.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821048	0.50633	.	.	ENSG00000186188	ENST00000371481;ENST00000371483	T;T	0.75477	-0.94;-0.94	5.22	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.224065	0.30667	N	0.009140	T	0.79233	0.4411	L	0.56199	1.76	0.33058	D	0.533642	D;D	0.62365	0.979;0.991	P;P	0.62298	0.839;0.9	T	0.83174	-0.0092	10	0.87932	D	0	-14.0243	9.127	0.36821	0.0:0.7767:0.0:0.2233	.	77;77	Q5NUL3-2;Q5NUL3	.;O3FA1_HUMAN	M	77	ENSP00000360536:L77M;ENSP00000360538:L77M	ENSP00000360536:L77M	L	+	1	2	O3FAR1	95316696	1.000000	0.71417	0.999000	0.59377	0.404000	0.30871	1.613000	0.36900	0.762000	0.33152	0.561000	0.74099	CTG		0.677	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		3	43	1	0	0.004672	0.00480346	3	43				
TRIM21	6737	broad.mit.edu	37	11	4409647	4409647	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:4409647C>T	ENST00000254436.7	-	4	730	c.618G>A	c.(616-618)gaG>gaA	p.E206E	TRIM21_ENST00000543625.1_Silent_p.E206E	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	206					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TTCTCAGCTGCTCCCTCTCAT	0.542																																						uc001lyy.1		NA																	0				ovary(3)|lung(1)	4						c.(616-618)GAG>GAA		tripartite motif protein 21							151.0	156.0	154.0					11																	4409647		2005	4181	6186	SO:0001819	synonymous_variant	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4409647C>T	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.618G>A	11.37:g.4409647C>T							p.E206E	NM_003141	NP_003132	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	4	731	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	206			Potential.		Q5XPV5|Q96RF8	Silent	SNP	ENST00000254436.7	37	c.618G>A	CCDS44525.1																																																																																				0.542	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		86	204	0	0	0	0	86	204				
SLC43A1	8501	broad.mit.edu	37	11	57261527	57261527	+	Silent	SNP	G	G	A	rs146290858	byFrequency	TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:57261527G>A	ENST00000278426.3	-	8	1165	c.810C>T	c.(808-810)gaC>gaT	p.D270D	SLC43A1_ENST00000528450.1_Silent_p.D270D|SLC43A1_ENST00000533515.1_5'UTR	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CATCCGAACCGTCCTCCAGGC	0.612											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	g|||	2	0.000399361	0.0015	0.0	5008	,	,		19732	0.0		0.0	False		,,,				2504	0.0					uc001nkk.2		NA																	0					0						c.(808-810)GAC>GAT		solute carrier family 43, member 1		G	,	5,4397	9.9+/-24.2	0,5,2196	85.0	73.0	77.0		810,810	-3.4	0.1	11	dbSNP_134	77	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	SLC43A1	NM_001198810.1,NM_003627.5	,	0,5,6492	AA,AG,GG		0.0,0.1136,0.0385	,	270/560,270/560	57261527	5,12989	2201	4296	6497	SO:0001819	synonymous_variant	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57261527G>A	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.810C>T	11.37:g.57261527G>A			OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1021	SLC43A1_uc001nkl.2_Silent_p.D270D	p.D270D	NM_003627	NP_003618	O75387	LAT3_HUMAN			8	928	-			270						Silent	SNP	ENST00000278426.3	37	c.810C>T	CCDS7958.1																																																																																				0.612	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627		6	58	0	0	0	0	6	58				
ZFP91	80829	broad.mit.edu	37	11	58379154	58379154	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:58379154A>T	ENST00000316059.6	+	6	971	c.800A>T	c.(799-801)gAg>gTg	p.E267V	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E267V|AP001350.1_ENST00000601906.1_5'Flank	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	267	Glu-rich.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				gtggaagtagaggtggaggtg	0.383																																						uc001nmx.3		NA																	0				ovary(1)	1						c.(799-801)GAG>GTG		zinc finger protein 91							91.0	92.0	91.0					11																	58379154		2201	4294	6495	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58379154A>T	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.800A>T	11.37:g.58379154A>T	ENSP00000339030:p.Glu267Val					ZFP91_uc001nmy.3_Missense_Mutation_p.E266V|ZFP91-CNTF_uc010rkm.1_RNA	p.E267V	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN			6	968	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	267			Glu-rich.		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.800A>T	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.245284	0.59103	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.11712	2.75	5.17	4.03	0.46877	.	.	.	.	.	T	0.07143	0.0181	N	0.14661	0.345	0.33582	D	0.60004	B;B	0.06786	0.001;0.0	B;B	0.12156	0.007;0.003	T	0.12941	-1.0528	9	0.35671	T	0.21	-10.9916	10.6515	0.45651	0.8564:0.0:0.0:0.1436	.	267;267	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	V	267	ENSP00000339030:E267V	ENSP00000374569:E267V	E	+	2	0	ZFP91	58135730	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	6.045000	0.71020	0.966000	0.38159	0.528000	0.53228	GAG		0.383	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		5	35	0	0	0	0	5	35				
MRPL49	740	broad.mit.edu	37	11	64893285	64893285	+	Silent	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:64893285C>A	ENST00000279242.2	+	4	461	c.442C>A	c.(442-444)Cgg>Agg	p.R148R	MRPL49_ENST00000524482.1_3'UTR|MRPL49_ENST00000534078.1_3'UTR|MRPL49_ENST00000531705.1_Intron	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	148					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						AGGTACCCTACGGATCAAGGG	0.567																																						uc001oda.1		NA																	0					0						c.(442-444)CGG>AGG		mitochondrial ribosomal protein L49							86.0	89.0	88.0					11																	64893285		2201	4297	6498	SO:0001819	synonymous_variant	740				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr11:64893285C>A		CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608	ENST00000279242.2:c.442C>A	11.37:g.64893285C>A						MRPL49_uc001ocz.1_RNA	p.R148R	NM_004927	NP_004918	Q13405	RM49_HUMAN			4	533	+			148					B2R4G6	Silent	SNP	ENST00000279242.2	37	c.442C>A	CCDS8096.1	.	.	.	.	.	.	.	.	.	.	C	7.172	0.587933	0.13812	.	.	ENSG00000149792	ENST00000533943	.	.	.	5.42	4.5	0.54988	.	.	.	.	.	T	0.50240	0.1604	.	.	.	0.38573	D	0.950006	.	.	.	.	.	.	T	0.50882	-0.8775	4	.	.	.	-3.7517	6.2232	0.20693	0.1856:0.7227:0.0:0.0916	.	.	.	.	K	108	.	.	T	+	2	0	MRPL49	64649861	0.999000	0.42202	0.985000	0.45067	0.768000	0.43524	2.597000	0.46214	2.546000	0.85860	0.555000	0.69702	ACG		0.567	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927		37	140	1	0	3.33e-15	3.82e-15	37	140				
TENM4	26011	broad.mit.edu	37	11	78443447	78443447	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:78443447G>A	ENST00000278550.7	-	21	3514	c.3052C>T	c.(3052-3054)Cgc>Tgc	p.R1018C		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1018					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GGGTTGGGGCGGGCAAAATTG	0.552																																						uc001ozl.3		NA																	0				ovary(2)|pancreas(2)	4						c.(3052-3054)CGC>TGC		odz, odd Oz/ten-m homolog 4							74.0	84.0	81.0					11																	78443447		1977	4157	6134	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78443447G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3052C>T	11.37:g.78443447G>A	ENSP00000278550:p.Arg1018Cys						p.R1018C	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			21	3515	-			1018			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.3052C>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024855	0.75390	.	.	ENSG00000149256	ENST00000278550	D	0.90444	-2.67	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.95130	0.8422	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94873	0.8032	9	.	.	.	.	18.0785	0.89435	0.0:0.0:1.0:0.0	.	1018	Q6N022	TEN4_HUMAN	C	1018	ENSP00000278550:R1018C	.	R	-	1	0	ODZ4	78121095	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.308000	0.51896	2.495000	0.84180	0.561000	0.74099	CGC		0.552	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			15	35	0	0	0	0	15	35				
FAT3	120114	broad.mit.edu	37	11	92523277	92523277	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:92523277G>C	ENST00000298047.6	+	7	4521	c.4504G>C	c.(4504-4506)Gac>Cac	p.D1502H	FAT3_ENST00000525166.1_Missense_Mutation_p.D1352H|FAT3_ENST00000409404.2_Missense_Mutation_p.D1502H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1502	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAGCAGCATCGACTCCATCAG	0.507										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(4504-4506)GAC>CAC		FAT tumor suppressor homolog 3							192.0	185.0	188.0					11																	92523277		2097	4240	6337	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92523277G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4504G>C	11.37:g.92523277G>C	ENSP00000298047:p.Asp1502His	TCGA Ovarian(4;0.039)					p.D1502H	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			7	4521	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1502			Cadherin 14.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4504G>C		.	.	.	.	.	.	.	.	.	.	G	22.9	4.355254	0.82243	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.52057	0.68;0.68;0.68	6.17	6.17	0.99709	.	.	.	.	.	T	0.72309	0.3444	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70215	-0.4933	9	0.51188	T	0.08	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1502	Q8TDW7-3	.	H	1502;1502;1352	ENSP00000298047:D1502H;ENSP00000387040:D1502H;ENSP00000432586:D1352H	ENSP00000298047:D1502H	D	+	1	0	FAT3	92162925	1.000000	0.71417	0.797000	0.32132	0.541000	0.35023	9.787000	0.99055	2.941000	0.99782	0.655000	0.94253	GAC		0.507	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		20	182	0	0	0	0	20	182				
FAT3	120114	broad.mit.edu	37	11	92534060	92534060	+	Silent	SNP	C	C	T	rs372331075		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:92534060C>T	ENST00000298047.6	+	9	7898	c.7881C>T	c.(7879-7881)ccC>ccT	p.P2627P	FAT3_ENST00000525166.1_Silent_p.P2477P|FAT3_ENST00000409404.2_Silent_p.P2627P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2627	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCATAGATCCCGATGATGGAG	0.498										TCGA Ovarian(4;0.039)			C|||	1	0.000199681	0.0	0.0	5008	,	,		20023	0.001		0.0	False		,,,				2504	0.0					uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(7879-7881)CCC>CCT		FAT tumor suppressor homolog 3		C		0,3886		0,0,1943	41.0	40.0	41.0		7881	-8.9	1.0	11		41	3,8291		0,3,4144	no	coding-synonymous	FAT3	NM_001008781.2		0,3,6087	TT,TC,CC		0.0362,0.0,0.0246		2627/4558	92534060	3,12177	1943	4147	6090	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534060C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7881C>T	11.37:g.92534060C>T		TCGA Ovarian(4;0.039)					p.P2627P	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	7898	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2627			Cadherin 24.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.7881C>T																																																																																					0.498	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		9	20	0	0	0	0	9	20				
CNTN5	53942	broad.mit.edu	37	11	99690441	99690441	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:99690441G>A	ENST00000524871.1	+	4	512	c.222G>A	c.(220-222)caG>caA	p.Q74Q	CNTN5_ENST00000528682.1_Silent_p.Q74Q|CNTN5_ENST00000527185.1_Silent_p.Q74Q|CNTN5_ENST00000279463.3_Silent_p.Q74Q|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	74					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGGCAGCTCAGAATTATTATT	0.443																																						uc001pga.2		NA																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(220-222)CAG>CAA		contactin 5 isoform long							66.0	65.0	66.0					11																	99690441		1899	4100	5999	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99690441G>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.222G>A	11.37:g.99690441G>A						CNTN5_uc009ywv.1_Silent_p.Q74Q|CNTN5_uc001pfz.2_Silent_p.Q74Q|CNTN5_uc001pgb.2_Intron	p.Q74Q	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	4	561	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	74					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.222G>A	CCDS53696.1																																																																																				0.443	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		3	28	0	0	0	0	3	28				
NXPE1	120400	broad.mit.edu	37	11	114392969	114392969	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:114392969G>A	ENST00000424269.1	-	5	1364	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	NXPE1_ENST00000536271.1_Silent_p.I171I|NXPE1_ENST00000251921.2_Silent_p.I313I			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	455						extracellular region (GO:0005576)											TTTGAACACCGATGGCCCTGC	0.433																																						uc001ppa.2		NA																	0					0						c.(937-939)ATC>ATT		hypothetical protein LOC120400							137.0	128.0	131.0					11																	114392969		2201	4296	6497	SO:0001819	synonymous_variant	120400					extracellular region		g.chr11:114392969G>A	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1365C>T	11.37:g.114392969G>A						FAM55A_uc010rxd.1_Silent_p.I162I	p.I313I	NM_152315	NP_689528	Q8N323	FA55A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)	6	1356	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	455					B0YJ13	Silent	SNP	ENST00000424269.1	37	c.939C>T																																																																																					0.433	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		10	89	0	0	0	0	10	89				
PKNOX2	63876	broad.mit.edu	37	11	125301235	125301235	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:125301235C>T	ENST00000298282.9	+	13	1637	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Nonsense_Mutation_p.Q392*	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	456					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CGACGAGCTGCAGACGACAAA	0.577																																						uc001qbu.2		NA																	0				ovary(3)	3						c.(1366-1368)CAG>TAG		PBX/knotted 1 homeobox 2							52.0	59.0	57.0					11																	125301235		2172	4260	6432	SO:0001587	stop_gained	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125301235C>T	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1366C>T	11.37:g.125301235C>T	ENSP00000298282:p.Gln456*					PKNOX2_uc010saz.1_Nonsense_Mutation_p.Q427*|PKNOX2_uc010sba.1_Nonsense_Mutation_p.Q427*|PKNOX2_uc010sbb.1_Nonsense_Mutation_p.Q392*|PKNOX2_uc001qbv.2_Nonsense_Mutation_p.Q221*	p.Q456*	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	13	1680	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	456					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Nonsense_Mutation	SNP	ENST00000298282.9	37	c.1366C>T	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	C	36	5.674955	0.96764	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	.	.	.	4.56	4.56	0.56223	.	0.333550	0.29178	N	0.012906	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-10.2361	17.4841	0.87682	0.0:1.0:0.0:0.0	.	.	.	.	X	427;427;456;392	.	ENSP00000298282:Q456X	Q	+	1	0	PKNOX2	124806445	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.408000	0.44574	2.517000	0.84864	0.655000	0.94253	CAG		0.577	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			4	41	0	0	0	0	4	41				
SRPR	6734	broad.mit.edu	37	11	126137475	126137475	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:126137475C>G	ENST00000332118.6	-	3	488	c.334G>C	c.(334-336)Gat>Cat	p.D112H	FOXRED1_ENST00000532125.1_5'Flank|FOXRED1_ENST00000263578.5_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.D84H|FOXRED1_ENST00000442061.2_5'Flank|SRPR_ENST00000530680.1_5'UTR	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	112					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TTTTGGAAATCAAAAGTGCCA	0.418																																						uc001qdh.2		NA																	0					0						c.(334-336)GAT>CAT		signal recognition particle receptor							59.0	65.0	63.0					11																	126137475		2201	4298	6499	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126137475C>G	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.334G>C	11.37:g.126137475C>G	ENSP00000328023:p.Asp112His					SRPR_uc010sbm.1_Missense_Mutation_p.D84H|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	p.D112H	NM_003139	NP_003130	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	3	385	-	all_hematologic(175;0.145)		112					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.334G>C	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.474910	0.63737	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	4.51	4.51	0.55191	Longin-like (1);Signal recognition particle receptor, alpha subunit, N-terminal (1);	0.169079	0.51477	D	0.000098	T	0.65144	0.2663	L	0.34521	1.04	0.80722	D	1	P;D	0.60575	0.916;0.988	P;P	0.61874	0.895;0.836	T	0.69859	-0.5031	9	0.72032	D	0.01	-12.9419	17.4183	0.87507	0.0:1.0:0.0:0.0	.	84;112	E9PJS4;P08240	.;SRPR_HUMAN	H	112;84	.	ENSP00000328023:D112H	D	-	1	0	SRPR	125642685	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.677000	0.61634	2.324000	0.78689	0.484000	0.47621	GAT		0.418	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		10	106	0	0	0	0	10	106				
IQSEC3	440073	broad.mit.edu	37	12	247993	247993	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:247993C>T	ENST00000538872.1	+	4	1582	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V	IQSEC3_ENST00000326261.4_Silent_p.V488V|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000382841.2_Silent_p.V185V|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	488					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TCCGGGACGTCACGGTGCAGA	0.726																																						uc001qhw.1		NA																	0				central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(553-555)GTC>GTT		IQ motif and Sec7 domain 3							39.0	35.0	36.0					12																	247993		2203	4300	6503	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247993C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1464C>T	12.37:g.247993C>T						IQSEC3_uc001qhu.1_Silent_p.V185V|IQSEC3_uc001qht.1_Silent_p.V270V|uc001qhv.1_Intron	p.V185V	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	561	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		488					A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.555C>T	CCDS53728.1																																																																																				0.726	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		5	19	0	0	0	0	5	19				
CACNA1C	775	broad.mit.edu	37	12	2659197	2659197	+	Silent	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:2659197G>T	ENST00000347598.4	+	10	1479	c.1479G>T	c.(1477-1479)ctG>ctT	p.L493L	CACNA1C_ENST00000399601.1_Silent_p.L493L|CACNA1C_ENST00000402845.3_Silent_p.L493L|CACNA1C_ENST00000399591.1_Silent_p.L493L|CACNA1C_ENST00000480911.1_Silent_p.L493L|CACNA1C_ENST00000406454.3_Silent_p.L493L|CACNA1C_ENST00000399641.1_Silent_p.L493L|CACNA1C_ENST00000399597.1_Silent_p.L493L|CACNA1C_ENST00000399637.1_Silent_p.L493L|CACNA1C_ENST00000399655.1_Silent_p.L493L|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000335762.5_Silent_p.L518L|CACNA1C_ENST00000327702.7_Silent_p.L493L|CACNA1C_ENST00000399634.1_Silent_p.L493L|CACNA1C_ENST00000399603.1_Silent_p.L493L|CACNA1C_ENST00000399606.1_Silent_p.L493L|CACNA1C_ENST00000399621.1_Silent_p.L493L|CACNA1C_ENST00000399644.1_Silent_p.L493L|CACNA1C_ENST00000399649.1_Silent_p.L493L|CACNA1C_ENST00000399595.1_Silent_p.L493L|CACNA1C_ENST00000344100.3_Silent_p.L493L|CACNA1C_ENST00000399629.1_Silent_p.L493L|CACNA1C_ENST00000399638.1_Silent_p.L493L|CACNA1C_ENST00000399617.1_Silent_p.L493L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	493					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGCCAGGCTGGCGTGAGTAG	0.592																																						uc009zdu.1		NA																	0				ovary(10)|central_nervous_system(1)	11						c.(1477-1479)CTG>CTT		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						35.0	39.0	38.0					12																	2659197		2005	4171	6176	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2659197G>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1479G>T	12.37:g.2659197G>T						CACNA1C_uc009zdv.1_Silent_p.L490L|CACNA1C_uc001qkb.2_Silent_p.L493L|CACNA1C_uc001qkc.2_Silent_p.L493L|CACNA1C_uc001qke.2_Silent_p.L493L|CACNA1C_uc001qkf.2_Silent_p.L493L|CACNA1C_uc001qjz.2_Silent_p.L493L|CACNA1C_uc001qkd.2_Silent_p.L493L|CACNA1C_uc001qkg.2_Silent_p.L493L|CACNA1C_uc009zdw.1_Silent_p.L493L|CACNA1C_uc001qkh.2_Silent_p.L493L|CACNA1C_uc001qkl.2_Silent_p.L493L|CACNA1C_uc001qkn.2_Silent_p.L493L|CACNA1C_uc001qko.2_Silent_p.L493L|CACNA1C_uc001qkp.2_Silent_p.L493L|CACNA1C_uc001qkr.2_Silent_p.L493L|CACNA1C_uc001qku.2_Silent_p.L493L|CACNA1C_uc001qkq.2_Silent_p.L493L|CACNA1C_uc001qks.2_Silent_p.L493L|CACNA1C_uc001qkt.2_Silent_p.L493L|CACNA1C_uc001qka.1_Silent_p.L28L|CACNA1C_uc001qki.1_Silent_p.L229L|CACNA1C_uc001qkj.1_Silent_p.L229L|CACNA1C_uc001qkk.1_Silent_p.L229L|CACNA1C_uc001qkm.1_Silent_p.L229L|CACNA1C_uc009zdy.1_Silent_p.L118L|CACNA1C_uc001qkv.1_Silent_p.L63L	p.L493L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	10	1792	+			493			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.1479G>T	CCDS44788.1																																																																																				0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		9	10	1	0	4.69e-08	5.07e-08	9	10				
SLC2A3	6515	broad.mit.edu	37	12	8075605	8075605	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:8075605T>A	ENST00000075120.7	-	9	1324	c.1084A>T	c.(1084-1086)Atg>Ttg	p.M362L		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	362					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		ACAAAGCTCATCCCATTATAG	0.423																																					Colon(96;424 1461 14416 20933 23688)	uc001qtr.2		NA																	0				ovary(3)|pancreas(1)	4						c.(1084-1086)ATG>TTG		solute carrier family 2 (facilitated glucose							37.0	36.0	36.0					12																	8075605		2203	4300	6503	SO:0001583	missense	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8075605T>A	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.1084A>T	12.37:g.8075605T>A	ENSP00000075120:p.Met362Leu						p.M362L	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	9	1346	-			362			Extracellular (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.1084A>T	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	T	8.352	0.831126	0.16820	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.74106	-0.81	4.34	4.34	0.51931	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.217055	0.50627	D	0.000113	T	0.54046	0.1834	N	0.11698	0.16	0.39208	D	0.96326	B	0.11235	0.004	B	0.23150	0.044	T	0.52682	-0.8543	10	0.33940	T	0.23	.	7.3637	0.26760	0.1946:0.0:0.0:0.8053	.	362	P11169	GTR3_HUMAN	L	362;288	ENSP00000075120:M362L	ENSP00000075120:M362L	M	-	1	0	SLC2A3	7966872	1.000000	0.71417	0.910000	0.35882	0.057000	0.15508	4.047000	0.57383	1.943000	0.56356	0.533000	0.62120	ATG		0.423	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		8	40	0	0	0	0	8	40				
SENP1	29843	broad.mit.edu	37	12	48457609	48457609	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:48457609T>A	ENST00000004980.5	-	13	1769	c.1291A>T	c.(1291-1293)Ata>Tta	p.I431L	SENP1_ENST00000551330.1_Missense_Mutation_p.I431L|SENP1_ENST00000448372.1_Missense_Mutation_p.I431L|SENP1_ENST00000549518.1_Missense_Mutation_p.I431L|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549595.1_Missense_Mutation_p.I431L			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	431					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				ACATTCTTTATTTCTTTCTCC	0.383																																						uc001rqx.2		NA																	0				pancreas(2)|lung(1)	3						c.(1291-1293)ATA>TTA		sentrin/SUMO-specific protease 1							94.0	87.0	89.0					12																	48457609		1857	4110	5967	SO:0001583	missense	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48457609T>A	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.1291A>T	12.37:g.48457609T>A	ENSP00000004980:p.Ile431Leu					SENP1_uc001rqw.2_Missense_Mutation_p.I431L|SENP1_uc001rqy.2_Missense_Mutation_p.I232L|SENP1_uc001rqz.2_Missense_Mutation_p.I232L|SENP1_uc009zkx.2_Missense_Mutation_p.I431L	p.I431L	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN			13	1737	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	431					A8K7P5|Q86XC8	Missense_Mutation	SNP	ENST00000004980.5	37	c.1291A>T	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	T	24.9	4.581453	0.86748	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.42513	0.97;1.6;0.97;1.6;0.97	5.24	5.24	0.73138	.	0.051525	0.85682	D	0.000000	T	0.47581	0.1453	N	0.24115	0.695	0.80722	D	1	P;P	0.42123	0.608;0.771	P;P	0.56088	0.772;0.791	T	0.51772	-0.8663	10	0.72032	D	0.01	-16.2348	15.108	0.72334	0.0:0.0:0.0:1.0	.	431;431	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	L	431	ENSP00000004980:I431L;ENSP00000394791:I431L;ENSP00000446681:I431L;ENSP00000450076:I431L;ENSP00000447328:I431L	ENSP00000004980:I431L	I	-	1	0	SENP1	46743876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.932000	0.63476	2.114000	0.64651	0.533000	0.62120	ATA		0.383	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		10	22	0	0	0	0	10	22				
STAC3	246329	broad.mit.edu	37	12	57640593	57640593	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:57640593C>G	ENST00000332782.2	-	6	798	c.597G>C	c.(595-597)aaG>aaC	p.K199N	STAC3_ENST00000546246.2_Missense_Mutation_p.K13N|STAC3_ENST00000554578.1_Missense_Mutation_p.K160N	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	199					intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						TCACATTTTTCTTATCTGCCT	0.498																																						uc001snp.2		NA																	0				ovary(2)|skin(1)	3						c.(595-597)AAG>AAC		SH3 and cysteine rich domain 3							273.0	213.0	233.0					12																	57640593		2203	4300	6503	SO:0001583	missense	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57640593C>G	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.597G>C	12.37:g.57640593C>G	ENSP00000329200:p.Lys199Asn					STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Missense_Mutation_p.K160N|STAC3_uc010srm.1_Missense_Mutation_p.K13N	p.K199N	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN			6	792	-			199					B4DUK9|Q96HU5	Missense_Mutation	SNP	ENST00000332782.2	37	c.597G>C	CCDS8936.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521062	0.44866	.	.	ENSG00000185482	ENST00000554578;ENST00000332782;ENST00000546246	D;D;T	0.81996	-1.54;-1.56;-0.16	5.0	0.00427	0.14057	.	0.000000	0.85682	D	0.000000	D	0.85177	0.5637	L	0.51422	1.61	0.51012	D	0.999904	D	0.71674	0.998	D	0.73708	0.981	T	0.80034	-0.1551	10	0.25751	T	0.34	-24.1852	11.1535	0.48473	0.0:0.5778:0.0:0.4222	.	199	Q96MF2	STAC3_HUMAN	N	160;199;13	ENSP00000452068:K160N;ENSP00000329200:K199N;ENSP00000441515:K13N	ENSP00000329200:K199N	K	-	3	2	STAC3	55926860	1.000000	0.71417	0.996000	0.52242	0.831000	0.47069	0.813000	0.27225	-0.097000	0.12307	-1.847000	0.00572	AAG		0.498	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		23	325	0	0	0	0	23	325				
HELB	92797	broad.mit.edu	37	12	66696407	66696408	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:66696407_66696408GC>TT	ENST00000247815.4	+	1	83_84	c.24_25GC>TT	c.(22-27)ctGCgc>ctTTgc	p.R9C		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	9					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTCCGTACCTGCGCCAACTTCA	0.55																																						uc001sti.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(22-27)CTGCGC>CTTTGC		helicase (DNA) B																																				SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66696407_66696408GC>TT	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	Exception_encountered	12.37:g.66696407_66696408delinsTT	ENSP00000247815:p.Arg9Cys					HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	p.R9C	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	1	52_53	+			9					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	DNP	ENST00000247815.4	37	c.24_25GC>TT	CCDS8976.1																																																																																				0.550	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			17	91	0	0	0	0	17	91				
NBEA	26960	broad.mit.edu	37	13	36129126	36129126	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr13:36129126G>A	ENST00000400445.3	+	44	7343	c.6809G>A	c.(6808-6810)aGg>aAg	p.R2270K	NBEA_ENST00000310336.4_Missense_Mutation_p.R2270K|NBEA_ENST00000540320.1_Missense_Mutation_p.R2270K|NBEA_ENST00000537702.1_Missense_Mutation_p.R63K|NBEA_ENST00000379939.2_Missense_Mutation_p.R2267K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2270					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATTGCTAGGAGGATATCATTG	0.318																																						uc001uvb.2		NA																	0				ovary(9)|large_intestine(2)	11						c.(6808-6810)AGG>AAG		neurobeachin							84.0	78.0	80.0					13																	36129126		1845	4086	5931	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36129126G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6809G>A	13.37:g.36129126G>A	ENSP00000383295:p.Arg2270Lys					NBEA_uc010abi.2_Missense_Mutation_p.R926K|NBEA_uc010tee.1_Missense_Mutation_p.R63K|NBEA_uc010tef.1_Missense_Mutation_p.R63K|NBEA_uc010teg.1_Missense_Mutation_p.R63K	p.R2270K	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	44	7015	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2270					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.6809G>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965797	0.53507	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000543274;ENST00000537702	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	4.84	3.97	0.46021	BEACH domain (1);	0.090824	0.85682	D	0.000000	T	0.56001	0.1956	L	0.50333	1.59	0.58432	D	0.999999	B;B	0.13145	0.001;0.007	B;B	0.18263	0.009;0.021	T	0.50516	-0.8819	10	0.24483	T	0.36	.	14.886	0.70570	0.0:0.1444:0.8556:0.0	.	2270;2267	Q8NFP9;Q5T321	NBEA_HUMAN;.	K	2270;2270;2267;2270;897;63;63	ENSP00000440951:R2270K;ENSP00000383295:R2270K;ENSP00000369271:R2267K;ENSP00000308534:R2270K;ENSP00000440233:R63K	ENSP00000308534:R2270K	R	+	2	0	NBEA	35027126	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.756000	0.98918	0.972000	0.38314	0.655000	0.94253	AGG		0.318	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		6	45	0	0	0	0	6	45				
CCDC70	83446	broad.mit.edu	37	13	52439668	52439668	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr13:52439668C>T	ENST00000242819.4	+	2	450	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	52						extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R52C(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AAAGGCTTTTCGCGAAGAGAT	0.517																																						uc001vfu.3		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(154-156)CGC>TGC		coiled-coil domain containing 70 precursor							67.0	69.0	68.0					13																	52439668		2203	4300	6503	SO:0001583	missense	83446					extracellular region|plasma membrane		g.chr13:52439668C>T		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.154C>T	13.37:g.52439668C>T	ENSP00000242819:p.Arg52Cys					uc010tgr.1_RNA	p.R52C	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	450	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	52					Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	c.154C>T	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641014	0.29157	.	.	ENSG00000123171	ENST00000242819	T	0.22336	1.96	5.55	1.83	0.25207	.	0.233858	0.30134	N	0.010334	T	0.31702	0.0805	M	0.70595	2.14	0.09310	N	1	D	0.71674	0.998	P	0.56700	0.804	T	0.12553	-1.0543	10	0.87932	D	0	-3.7611	4.4143	0.11448	0.1466:0.5351:0.0:0.3183	.	52	Q6NSX1	CCD70_HUMAN	C	52	ENSP00000242819:R52C	ENSP00000242819:R52C	R	+	1	0	CCDC70	51337669	0.015000	0.18098	0.000000	0.03702	0.008000	0.06430	0.565000	0.23578	0.297000	0.22615	-0.251000	0.11542	CGC		0.517	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		26	173	0	0	0	0	26	173				
NEK5	341676	broad.mit.edu	37	13	52660423	52660423	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr13:52660423C>G	ENST00000355568.4	-	16	1608	c.1469G>C	c.(1468-1470)aGa>aCa	p.R490T		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	490					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTCTGGTTCTCTCCCCATCTT	0.363																																						uc001vge.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1468-1470)AGA>ACA		NIMA-related kinase 5							200.0	164.0	176.0					13																	52660423		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52660423C>G	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1469G>C	13.37:g.52660423C>G	ENSP00000347767:p.Arg490Thr						p.R490T	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	16	1609	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	490					Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.1469G>C	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	6.205	0.406022	0.11754	.	.	ENSG00000197168	ENST00000355568	T	0.71341	-0.56	5.64	4.79	0.61399	.	0.500084	0.18952	N	0.126665	T	0.55242	0.1908	N	0.24115	0.695	0.23991	N	0.996242	B	0.14438	0.01	B	0.10450	0.005	T	0.46527	-0.9185	10	0.39692	T	0.17	.	9.5069	0.39053	0.1616:0.6825:0.1558:0.0	.	490	Q6P3R8	NEK5_HUMAN	T	490	ENSP00000347767:R490T	ENSP00000347767:R490T	R	-	2	0	NEK5	51558424	0.983000	0.35010	0.530000	0.27963	0.860000	0.49131	3.413000	0.52686	1.372000	0.46190	-0.181000	0.13052	AGA		0.363	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		17	215	0	0	0	0	17	215				
PCDH17	27253	broad.mit.edu	37	13	58207106	58207106	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr13:58207106G>A	ENST00000377918.3	+	1	452	c.426G>A	c.(424-426)tcG>tcA	p.S142S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	142	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S142S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGGACATCTCGGAGAACGCTG	0.617																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(424-426)TCG>TCA		protocadherin 17 precursor							90.0	75.0	80.0					13																	58207106		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207106G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.426G>A	13.37:g.58207106G>A						PCDH17_uc010aec.1_Silent_p.S142S	p.S142S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1318	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	142			Extracellular (Potential).|Cadherin 2.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.426G>A	CCDS31986.1																																																																																				0.617	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		21	24	0	0	0	0	21	24				
EFS	10278	broad.mit.edu	37	14	23826643	23826643	+	Missense_Mutation	SNP	C	C	T	rs368461770		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr14:23826643C>T	ENST00000216733.3	-	6	2085	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q	EFS_ENST00000351354.3_Missense_Mutation_p.R400Q|RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000429593.2_Missense_Mutation_p.R324Q	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	493					cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGCTGCCAGCCGGCCCAGGGT	0.657																																						uc001wjo.2		NA																	0				large_intestine(1)	1						c.(1477-1479)CGG>CAG		embryonal Fyn-associated substrate isoform 1		C	GLN/ARG,GLN/ARG	0,4392		0,0,2196	25.0	29.0	28.0		1478,1199	4.7	1.0	14		28	1,8571		0,1,4285	no	missense,missense	EFS	NM_005864.2,NM_032459.1	43,43	0,1,6481	TT,TC,CC		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	493/562,400/469	23826643	1,12963	2196	4286	6482	SO:0001583	missense	10278				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23826643C>T	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1478G>A	14.37:g.23826643C>T	ENSP00000216733:p.Arg493Gln					EFS_uc001wjp.2_Missense_Mutation_p.R400Q|EFS_uc010tnm.1_Missense_Mutation_p.R324Q	p.R493Q	NM_005864	NP_005855	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	6	2086	-	all_cancers(95;7.12e-06)		493					B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.1478G>A	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	C	31	5.073507	0.94000	0.0	1.17E-4	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.27720	1.65;1.65;1.65	4.69	4.69	0.59074	CAS family, DUF3513 (1);	0.067752	0.64402	D	0.000016	T	0.54175	0.1842	M	0.66439	2.03	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.55405	-0.8146	10	0.51188	T	0.08	-18.9478	16.5723	0.84622	0.0:1.0:0.0:0.0	.	324;400;493	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	Q	493;400;324	ENSP00000216733:R493Q;ENSP00000340607:R400Q;ENSP00000416684:R324Q	ENSP00000216733:R493Q	R	-	2	0	EFS	22896483	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.799000	0.75160	2.424000	0.82194	0.655000	0.94253	CGG		0.657	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			19	42	0	0	0	0	19	42				
AKAP6	9472	broad.mit.edu	37	14	33147632	33147632	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr14:33147632A>T	ENST00000280979.4	+	8	3016	c.2846A>T	c.(2845-2847)gAt>gTt	p.D949V	AKAP6_ENST00000557354.1_Missense_Mutation_p.D949V|AKAP6_ENST00000557272.1_Missense_Mutation_p.D949V	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	949					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAGTTTGCTGATATGTCAAAA	0.413																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(2845-2847)GAT>GTT		A-kinase anchor protein 6							194.0	182.0	186.0					14																	33147632		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33147632A>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2846A>T	14.37:g.33147632A>T	ENSP00000280979:p.Asp949Val					AKAP6_uc010aml.2_Missense_Mutation_p.D946V	p.D949V	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	8	3016	+	Breast(36;0.0388)|Prostate(35;0.15)		949					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.2846A>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	A	18.39	3.614605	0.66672	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.19394	3.41;2.16;2.15	5.0	5.0	0.66597	.	0.084158	0.50627	D	0.000102	T	0.21022	0.0506	N	0.08118	0	0.58432	D	0.999998	D;D	0.60160	0.964;0.987	P;P	0.55871	0.601;0.786	T	0.14615	-1.0466	10	0.72032	D	0.01	-10.8844	13.565	0.61813	1.0:0.0:0.0:0.0	.	949;949	A7E242;Q13023	.;AKAP6_HUMAN	V	949	ENSP00000280979:D949V;ENSP00000450531:D949V;ENSP00000451247:D949V	ENSP00000280979:D949V	D	+	2	0	AKAP6	32217383	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.358000	0.73055	2.007000	0.58848	0.477000	0.44152	GAT		0.413	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		36	105	0	0	0	0	36	105				
FRMD6	122786	broad.mit.edu	37	14	52194513	52194513	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr14:52194513C>T	ENST00000344768.5	+	14	1831	c.1635C>T	c.(1633-1635)ctC>ctT	p.L545L	FRMD6_ENST00000553556.1_Silent_p.L187L|FRMD6_ENST00000554167.1_Silent_p.L468L|FRMD6_ENST00000395718.2_Silent_p.L537L|FRMD6_ENST00000356218.4_Silent_p.L537L			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	545					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GCTTGAGCCTCGATGACATCA	0.453																																						uc001wzd.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1633-1635)CTC>CTT		FERM domain containing 6							162.0	138.0	146.0					14																	52194513		2203	4300	6503	SO:0001819	synonymous_variant	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52194513C>T	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1635C>T	14.37:g.52194513C>T						FRMD6_uc001wzb.2_Silent_p.L537L|FRMD6_uc001wzc.2_Silent_p.L537L|FRMD6_uc001wze.2_Silent_p.L468L|FRMD6_uc001wzf.2_Silent_p.L238L|FRMD6_uc001wzg.2_Silent_p.L187L	p.L545L	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN			14	1920	+	all_epithelial(31;0.0163)|Breast(41;0.089)		545					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	37	c.1635C>T	CCDS58318.1																																																																																				0.453	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		10	148	0	0	0	0	10	148				
PIF1	80119	broad.mit.edu	37	15	65114583	65114583	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr15:65114583C>T	ENST00000268043.4	-	4	793	c.699G>A	c.(697-699)ggG>ggA	p.G233G	PIF1_ENST00000333425.6_Silent_p.G233G|PIF1_ENST00000559239.1_Silent_p.G233G					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						GATATGACTTCCCTGTTCCTG	0.617																																						uc002ant.2		NA																	0					0						c.(697-699)GGG>GGA		DNA helicase homolog PIF1							62.0	61.0	61.0					15																	65114583		2202	4299	6501	SO:0001819	synonymous_variant	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65114583C>T	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"""chromosome 15 open reading frame 20"", ""PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"""	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.699G>A	15.37:g.65114583C>T						PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Silent_p.G233G|PIF1_uc002anu.2_Missense_Mutation_p.G262E	p.G233G	NM_025049	NP_079325	Q9H611	PIF1_HUMAN			4	765	-			233			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.|ATP (Potential).			Silent	SNP	ENST00000268043.4	37	c.699G>A	CCDS10195.2																																																																																				0.617	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		38	72	0	0	0	0	38	72				
UACA	55075	broad.mit.edu	37	15	70960340	70960340	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr15:70960340G>C	ENST00000322954.6	-	16	2868	c.2683C>G	c.(2683-2685)Cag>Gag	p.Q895E	UACA_ENST00000560441.1_Missense_Mutation_p.Q880E|UACA_ENST00000539319.1_Missense_Mutation_p.Q786E|UACA_ENST00000379983.2_Missense_Mutation_p.Q882E	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	895					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ACAAATTCCTGATTTATATCT	0.308																																						uc002asr.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2683-2685)CAG>GAG		uveal autoantigen with coiled-coil domains and							26.0	26.0	26.0					15																	70960340		2182	4292	6474	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70960340G>C	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2683C>G	15.37:g.70960340G>C	ENSP00000314556:p.Gln895Glu					UACA_uc010uke.1_Missense_Mutation_p.Q786E|UACA_uc002asq.2_Missense_Mutation_p.Q882E|UACA_uc010bin.1_Missense_Mutation_p.Q870E	p.Q895E	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			16	2787	-			895			Potential.		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.2683C>G	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	0.145	-1.098173	0.01843	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.77750	-1.12;-1.12;-1.12	5.5	3.5	0.40072	.	0.425662	0.22155	N	0.063864	T	0.70219	0.3199	L	0.45137	1.4	0.09310	N	1	B;B;B;B	0.29481	0.239;0.154;0.245;0.11	B;B;B;B	0.33042	0.108;0.05;0.05;0.157	T	0.56902	-0.7902	10	0.18710	T	0.47	-12.645	13.7038	0.62624	0.0:0.0:0.7232:0.2768	.	786;895;895;882	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	E	895;882;786	ENSP00000314556:Q895E;ENSP00000369319:Q882E;ENSP00000438667:Q786E	ENSP00000314556:Q895E	Q	-	1	0	UACA	68747394	0.992000	0.36948	0.005000	0.12908	0.312000	0.27988	3.458000	0.53014	1.426000	0.47256	0.655000	0.94253	CAG		0.308	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			11	33	0	0	0	0	11	33				
SEMA7A	8482	broad.mit.edu	37	15	74707066	74707066	+	Silent	SNP	C	C	T	rs533725561	byFrequency	TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr15:74707066C>T	ENST00000261918.4	-	10	1664	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P	SEMA7A_ENST00000542748.1_Silent_p.P207P|SEMA7A_ENST00000543145.2_Silent_p.P358P	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	372	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CTGTGGGTATCGGCTGCTGGT	0.652													C|||	4	0.000798722	0.0	0.0	5008	,	,		18825	0.0		0.0	False		,,,				2504	0.0041					uc002axv.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1114-1116)CCG>CCA		semaphorin 7A isoform 1 preproprotein							55.0	64.0	61.0					15																	74707066		2197	4296	6493	SO:0001819	synonymous_variant	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74707066C>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1116G>A	15.37:g.74707066C>T						SEMA7A_uc010ulk.1_Silent_p.P207P|SEMA7A_uc010ull.1_Silent_p.P358P	p.P372P	NM_003612	NP_003603	O75326	SEM7A_HUMAN			10	1156	-			372			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	ENST00000261918.4	37	c.1116G>A	CCDS10262.1																																																																																				0.652	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		42	117	0	0	0	0	42	117				
CTSH	1512	broad.mit.edu	37	15	79231500	79231500	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr15:79231500G>A	ENST00000220166.5	-	2	214	c.105C>T	c.(103-105)ttC>ttT	p.F35F	CTSH_ENST00000534533.1_5'Flank	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	35					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TCCATGACTTGAAGTGAAACT	0.368																																						uc002ben.2		NA																	0				central_nervous_system(2)|large_intestine(1)	3						c.(67-69)TTC>TTT		cathepsin H isoform b precursor							54.0	58.0	56.0					15																	79231500		2196	4293	6489	SO:0001819	synonymous_variant	1512				protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr15:79231500G>A	X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"""Cathepsins"""	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.105C>T	15.37:g.79231500G>A						CTSH_uc010unf.1_RNA|CTSH_uc010bll.1_Intron|CTSH_uc010ung.1_Silent_p.F35F	p.F23F	NM_148979	NP_683880	P09668	CATH_HUMAN			3	166	-			35					B2RBK0|Q96NY6|Q9BUM7	Silent	SNP	ENST00000220166.5	37	c.69C>T	CCDS10308.1																																																																																				0.368	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291370.1	NM_004390		9	60	0	0	0	0	9	60				
CEMIP	57214	broad.mit.edu	37	15	81224351	81224351	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr15:81224351G>A	ENST00000394685.3	+	22	3183	c.2764G>A	c.(2764-2766)Gtg>Atg	p.V922M	KIAA1199_ENST00000220244.3_Missense_Mutation_p.V922M|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.V922M			Q8WUJ3	CEMIP_HUMAN		922					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCATAACAACGTGACCGGCAT	0.602																																						uc002bfw.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2764-2766)GTG>ATG		KIAA1199 precursor							78.0	86.0	83.0					15																	81224351		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81224351G>A																												ENST00000394685.3:c.2764G>A	15.37:g.81224351G>A	ENSP00000378177:p.Val922Met					KIAA1199_uc010unn.1_Missense_Mutation_p.V922M	p.V922M	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN			21	3024	+			922					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.2764G>A	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363229	0.41902	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	D;D;D	0.82167	-1.58;-1.58;-1.58	4.96	4.96	0.65561	Pectin lyase fold/virulence factor (1);	0.072532	0.53938	D	0.000046	T	0.69106	0.3074	L	0.35288	1.05	0.35485	D	0.798509	P	0.47253	0.892	B	0.31442	0.13	T	0.77461	-0.2579	10	0.38643	T	0.18	-29.319	11.8181	0.52222	0.0798:0.0:0.9202:0.0	.	922	Q8WUJ3	K1199_HUMAN	M	922	ENSP00000220244:V922M;ENSP00000378177:V922M;ENSP00000348583:V922M	ENSP00000220244:V922M	V	+	1	0	KIAA1199	79011406	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	5.679000	0.68160	2.593000	0.87608	0.563000	0.77884	GTG		0.602	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			52	217	0	0	0	0	52	217				
PEX11A	8800	broad.mit.edu	37	15	90229778	90229778	+	Splice_Site	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr15:90229778C>G	ENST00000300056.3	-	2	206		c.e2-1		PEX11A_ENST00000561224.1_Splice_Site|PEX11A_ENST00000559170.1_Intron|PEX11A_ENST00000561257.1_Splice_Site|PEX11A_ENST00000557982.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha						brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGAGTGGCTCTGAAATGGAA	0.378																																						uc002boi.2		NA																	0					0						c.e2-1		peroxisomal biogenesis factor 11 alpha							111.0	106.0	108.0					15																	90229778		2200	4299	6499	SO:0001630	splice_region_variant	8800				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		g.chr15:90229778C>G	AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"""peroxisomal biogenesis factor 11A"""			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.57-1G>C	15.37:g.90229778C>G						PEX11A_uc010upy.1_Intron	p.R19_splice	NM_003847	NP_003838	O75192	PX11A_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		2	152	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)							B4DV88	Splice_Site	SNP	ENST00000300056.3	37	c.57_splice	CCDS10354.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309605	0.81247	.	.	ENSG00000166821	ENST00000300056	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1242	0.93375	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PEX11A	88030782	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.252000	0.78309	2.763000	0.94921	0.650000	0.86243	.		0.378	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	NM_003847	Intron	15	169	0	0	0	0	15	169				
SH2B1	25970	broad.mit.edu	37	16	28856350	28856350	+	5'Flank	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr16:28856350G>A	ENST00000322610.8	+	0	0				TUFM_ENST00000313511.3_Silent_p.L147L|MIR4721_ENST00000577590.1_RNA			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.L147L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TGCAGCCGTCGAGGGGTGCAG	0.542																																						uc002drh.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(439-441)CTC>CTT		Tu translation elongation factor, mitochondrial							55.0	57.0	56.0					16																	28856350		2197	4300	6497	SO:0001631	upstream_gene_variant	7284					mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr16:28856350G>A	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28856350G>A	Exception_encountered					uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank	p.L147L	NM_003321	NP_003312	P49411	EFTU_HUMAN			4	580	-			144					A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Silent	SNP	ENST00000322610.8	37	c.441C>T	CCDS53996.1																																																																																				0.542	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		18	85	0	0	0	0	18	85				
NLRC5	84166	broad.mit.edu	37	16	57088721	57088721	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr16:57088721C>T	ENST00000262510.6	+	25	3790	c.3565C>T	c.(3565-3567)Ctg>Ttg	p.L1189L	RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000436936.1_Silent_p.L1189L|NLRC5_ENST00000308149.7_Silent_p.L1189L|NLRC5_ENST00000539144.1_Silent_p.L1189L	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1189					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CACCTTAAGCCTGTGTCCACG	0.577																																						uc002ekk.1		NA																	0				ovary(4)|skin(2)|breast(1)	7						c.(3565-3567)CTG>TTG		nucleotide-binding oligomerization domains 27							152.0	155.0	154.0					16																	57088721		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57088721C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3565C>T	16.37:g.57088721C>T						NLRC5_uc002ekn.2_Silent_p.L908L|NLRC5_uc002ekl.2_Silent_p.L994L|NLRC5_uc002ekm.2_Silent_p.L964L|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekp.1_Silent_p.L105L|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Silent_p.L105L	p.L1189L	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			25	3790	+		all_neural(199;0.225)	1189					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.3565C>T	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	0.049	-1.256558	0.01457	.	.	ENSG00000140853	ENST00000538805	.	.	.	4.74	0.146	0.14833	.	.	.	.	.	T	0.20251	0.0487	.	.	.	0.26530	N	0.974278	.	.	.	.	.	.	T	0.23297	-1.0192	4	.	.	.	.	0.9215	0.01316	0.1822:0.4135:0.1779:0.2264	.	.	.	.	L	941	.	.	P	+	2	0	NLRC5	55646222	0.651000	0.27340	0.184000	0.23157	0.057000	0.15508	0.350000	0.20079	-0.108000	0.12066	0.557000	0.71058	CCT		0.577	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		99	297	0	0	0	0	99	297				
ZNF319	57567	broad.mit.edu	37	16	58030907	58030907	+	Silent	SNP	G	G	A	rs150126886		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr16:58030907G>A	ENST00000299237.2	-	2	1885	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CGGCCGCGCCGGGCAGGCACT	0.662																																						uc002emx.1		NA																	0					0						c.(1261-1263)CCC>CCT		zinc finger protein 319		G		1,4391		0,1,2195	30.0	33.0	32.0		1263	-9.9	0.0	16	dbSNP_134	32	0,8598		0,0,4299	no	coding-synonymous	ZNF319	NM_020807.1		0,1,6494	AA,AG,GG		0.0,0.0228,0.0077		421/583	58030907	1,12989	2196	4299	6495	SO:0001819	synonymous_variant	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58030907G>A	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1263C>T	16.37:g.58030907G>A							p.P421P	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN			2	1886	-			421			C2H2-type 11; degenerate.		Q52LH8	Silent	SNP	ENST00000299237.2	37	c.1263C>T	CCDS32462.1																																																																																				0.662	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			7	55	0	0	0	0	7	55				
DDX19A	55308	broad.mit.edu	37	16	70398481	70398481	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr16:70398481C>A	ENST00000302243.7	+	6	585	c.422C>A	c.(421-423)aCt>aAt	p.T141N	DDX19A_ENST00000417604.2_Missense_Mutation_p.T110N|DDX19A_ENST00000443119.2_Missense_Mutation_p.T51N|RP11-529K1.3_ENST00000567706.1_Intron	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	141	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|N-terminal lobe. {ECO:0000250}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				CAGTCTGGCACTGGTAAAACA	0.498																																						uc002eyv.2		NA																	0					0						c.(421-423)ACT>AAT		DDX19-like protein							80.0	73.0	76.0					16																	70398481		2198	4300	6498	SO:0001583	missense	55308				mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr16:70398481C>A	AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"""DEAD-boxes"""	25628	protein-coding gene	gene with protein product			"""DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"""	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.422C>A	16.37:g.70398481C>A	ENSP00000306117:p.Thr141Asn					DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Missense_Mutation_p.T142N|DDX19A_uc010cfq.1_Intron|DDX19A_uc010cfr.2_Translation_Start_Site|DDX19A_uc010cfs.2_Translation_Start_Site|DDX19A_uc010vlz.1_Missense_Mutation_p.T110N|DDX19A_uc010vma.1_Missense_Mutation_p.T51N	p.T141N	NM_018332	NP_060802	Q9NUU7	DD19A_HUMAN			6	493	+		Ovarian(137;0.221)	141			ATP (By similarity).|Helicase ATP-binding.		B2RPL0|B4DRZ7|Q53FM0	Missense_Mutation	SNP	ENST00000302243.7	37	c.422C>A	CCDS10889.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487892	0.84854	.	.	ENSG00000168872	ENST00000302243;ENST00000302227;ENST00000417604;ENST00000443119	T;T;T	0.15603	2.41;2.41;2.41	4.83	4.83	0.62350	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53738	0.1815	H	0.94462	3.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.68625	-0.5359	10	0.87932	D	0	.	15.4295	0.75081	0.0:1.0:0.0:0.0	.	51;110;141;142	B4DRZ7;B4DS24;Q9NUU7;Q7Z4W5	.;.;DD19A_HUMAN;.	N	141;33;110;51	ENSP00000306117:T141N;ENSP00000410243:T110N;ENSP00000399208:T51N	ENSP00000306209:T33N	T	+	2	0	DDX19A	68955982	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.339000	0.79282	2.208000	0.71279	0.655000	0.94253	ACT		0.498	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268967.2	NM_018332		3	81	1	0	0.00909568	0.00929129	3	81				
PHLPP2	23035	broad.mit.edu	37	16	71710374	71710374	+	Missense_Mutation	SNP	G	G	A	rs377712192		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr16:71710374G>A	ENST00000568954.1	-	9	1825	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W	PHLPP2_ENST00000360429.3_Missense_Mutation_p.R483W|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R483W|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R518W|PHLPP2_ENST00000393524.2_Missense_Mutation_p.R483W			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	483					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TAGAGGGTCCGAAGGGAAAAG	0.502																																						uc002fax.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1447-1449)CGG>TGG		PH domain and leucine rich repeat protein		G	TRP/ARG	1,4395	2.1+/-5.4	0,1,2197	109.0	102.0	104.0		1447	3.4	1.0	16		104	0,8600		0,0,4300	no	missense	PHLPP2	NM_015020.2	101	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	483/1324	71710374	1,12995	2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71710374G>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.1447C>T	16.37:g.71710374G>A	ENSP00000457991:p.Arg483Trp					PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.R483W	p.R483W	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			8	1453	-			483			LRR 11.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.1447C>T	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163643	0.57476	2.27E-4	0.0	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T	0.36520	1.71;1.25;2.02	5.48	3.44	0.39384	.	0.060687	0.64402	D	0.000003	T	0.62600	0.2441	M	0.86502	2.82	0.41845	D	0.990144	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.936	T	0.68150	-0.5485	10	0.66056	D	0.02	-8.1195	12.6113	0.56552	0.0:0.0:0.5637:0.4363	.	483;483	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	W	290;483;483;483	ENSP00000353610:R483W;ENSP00000348611:R483W;ENSP00000377159:R483W	ENSP00000299971:R290W	R	-	1	2	PHLPP2	70267875	1.000000	0.71417	0.956000	0.39512	0.419000	0.31324	3.015000	0.49599	0.615000	0.30124	-0.181000	0.13052	CGG		0.502	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		7	51	0	0	0	0	7	51				
SMG6	23293	broad.mit.edu	37	17	2203496	2203496	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:2203496C>T	ENST00000263073.6	-	2	601	c.551G>A	c.(550-552)gGa>gAa	p.G184E	SMG6_ENST00000544865.1_Missense_Mutation_p.G153E	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	184	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CGCAACATTTCCCCTACACTC	0.502																																					Melanoma(59;28 1088 11621 25887 46638 50814)	uc002fub.1		NA																	0				central_nervous_system(2)|lung(1)|kidney(1)	4						c.(550-552)GGA>GAA		Smg-6 homolog, nonsense mediated mRNA decay							252.0	272.0	265.0					17																	2203496		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2203496C>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.551G>A	17.37:g.2203496C>T	ENSP00000263073:p.Gly184Glu					SMG6_uc002fud.1_Missense_Mutation_p.G153E	p.G184E	NM_017575	NP_060045	Q86US8	EST1A_HUMAN			2	606	-			184			Interaction with telomeric DNA.|Potential.		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.551G>A	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	C	0.901	-0.722208	0.03182	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.07688	3.17;3.17	5.33	0.546	0.17196	.	0.790897	0.12061	N	0.503105	T	0.04861	0.0131	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44742	-0.9308	10	0.19590	T	0.45	0.0731	3.8788	0.09069	0.1655:0.4127:0.0:0.4218	.	184	Q86US8	EST1A_HUMAN	E	184;153	ENSP00000263073:G184E;ENSP00000443920:G153E	ENSP00000263073:G184E	G	-	2	0	SMG6	2150246	0.042000	0.20092	0.229000	0.23960	0.080000	0.17528	0.622000	0.24433	0.251000	0.21505	-0.122000	0.15005	GGA		0.502	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			131	582	0	0	0	0	131	582				
OR1G1	8390	broad.mit.edu	37	17	3030782	3030782	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:3030782C>T	ENST00000328890.2	-	1	93	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	22					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TTCTGCTCCTCCAGCTGCTCA	0.493																																					Colon(127;1481 1654 8243 19426 50557)	uc002fvc.1		NA																	0					0						c.(64-66)GAG>AAG		olfactory receptor, family 1, subfamily G,							82.0	82.0	82.0					17																	3030782		2203	4300	6503	SO:0001583	missense	8390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3030782C>T	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"""GPCR / Class A : Olfactory receptors"""	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.64G>A	17.37:g.3030782C>T	ENSP00000331545:p.Glu22Lys						p.E22K	NM_003555	NP_003546	P47890	OR1G1_HUMAN			1	64	-			22			Extracellular (Potential).		Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP	ENST00000328890.2	37	c.64G>A	CCDS11020.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352638	0.61293	.	.	ENSG00000183024	ENST00000328890	T	0.00457	7.29	4.4	3.37	0.38596	.	.	.	.	.	T	0.00440	0.0014	L	0.47190	1.495	0.09310	N	1	B	0.30793	0.295	B	0.27608	0.081	T	0.47459	-0.9116	9	0.52906	T	0.07	.	12.7779	0.57459	0.0:0.5538:0.4462:0.0	.	22	P47890	OR1G1_HUMAN	K	22	ENSP00000331545:E22K	ENSP00000331545:E22K	E	-	1	0	OR1G1	2977532	0.000000	0.05858	0.039000	0.18376	0.961000	0.63080	0.009000	0.13219	0.942000	0.37525	0.530000	0.56133	GAG		0.493	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2			12	112	0	0	0	0	12	112				
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(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.(535-537)CAT>CGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	47.0	47.0					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	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.H179R|TP53_uc002gih.2_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.1_Missense_Mutation_p.H140R	p.H179R	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	730	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	53	0	0	0	0	21	53				
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000420246.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F	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	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (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.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)	ATGGCGCGGACGCGGGTGCCG	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	p.V157F(139)|p.V157I(10)|p.V157D(8)|p.V157G(7)|p.0?(7)|p.V157L(6)|p.V157V(5)|p.V157fs*13(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(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.(469-471)GTC>TTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	52.0	51.0					17																	7578461		2202	4300	6502	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578461C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe	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.V157F|TP53_uc002gih.2_Missense_Mutation_p.V157F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V25F|TP53_uc010cng.1_Missense_Mutation_p.V25F|TP53_uc002gii.1_Missense_Mutation_p.V25F|TP53_uc010cnh.1_Missense_Mutation_p.V157F|TP53_uc010cni.1_Missense_Mutation_p.V157F|TP53_uc002gij.2_Missense_Mutation_p.V157F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V64F|TP53_uc002gio.2_Missense_Mutation_p.V25F|TP53_uc010vug.1_Missense_Mutation_p.V118F	p.V157F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	663	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	157		V -> I (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).	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.469G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	63	1	0	2.71e-06	2.89e-06	22	63				
WRAP53	55135	broad.mit.edu	37	17	7604804	7604804	+	Silent	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:7604804G>T	ENST00000316024.5	+	5	3107	c.759G>T	c.(757-759)ccG>ccT	p.P253P	WRAP53_ENST00000534050.1_Silent_p.P220P|WRAP53_ENST00000396463.2_Silent_p.P253P|WRAP53_ENST00000457584.2_Silent_p.P253P|WRAP53_ENST00000431639.2_Silent_p.P253P			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	253					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GGGAGAACCCGATTCATATCT	0.607																																						uc010vuh.1		NA																	0					0						c.(757-759)CCG>CCT		WD repeat domain 79 isoform 2							84.0	84.0	84.0					17																	7604804		2203	4300	6503	SO:0001819	synonymous_variant	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	g.chr17:7604804G>T	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.759G>T	17.37:g.7604804G>T						WRAP53_uc010vui.1_Silent_p.P253P|WRAP53_uc002gip.2_Silent_p.P253P|WRAP53_uc002gir.2_Silent_p.P253P|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Silent_p.P220P|WRAP53_uc010vuj.1_Silent_p.P34P	p.P253P	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN			6	914	+			253			WD 2.		B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Silent	SNP	ENST00000316024.5	37	c.759G>T	CCDS11119.1																																																																																				0.607	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		40	119	1	0	3.43e-17	3.94e-17	40	119				
PER1	5187	broad.mit.edu	37	17	8049769	8049769	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:8049769G>A	ENST00000317276.4	-	16	2196	c.1959C>T	c.(1957-1959)tcC>tcT	p.S653S	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000354903.5_Silent_p.S637S|PER1_ENST00000581082.1_Silent_p.S633S	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	653	Poly-Ser.|Required for phosphorylation by CSNK1E. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGAGGAGGAGGAGGCACATT	0.587			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														uc002gkd.2		NA		Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		0				lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(1957-1959)TCC>TCT	Other_conserved_DNA_damage_response_genes	period 1							79.0	82.0	81.0					17																	8049769		2203	4300	6503	SO:0001819	synonymous_variant	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8049769G>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1959C>T	17.37:g.8049769G>A						PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Silent_p.S637S	p.S653S	NM_002616	NP_002607	O15534	PER1_HUMAN			16	2197	-			653			Poly-Ser.|CSNK1E binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	c.1959C>T	CCDS11131.1																																																																																				0.587	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			41	126	0	0	0	0	41	126				
LRRC75A	388341	broad.mit.edu	37	17	16347302	16347302	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:16347302G>T	ENST00000409083.3	-	3	681	c.519C>A	c.(517-519)caC>caA	p.H173Q	C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|FAM211A_ENST00000470794.1_Missense_Mutation_p.T212K|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000581913.1_RNA	NM_207387.3	NP_997270.2														lung(1)	1						CGTGAGGCCTGTGAAGCCCAG	0.657																																						uc010cph.1		NA																	0					0						c.(634-636)ACA>AAA		hypothetical protein LOC388341 isoform 1							74.0	60.0	65.0					17																	16347302		2203	4300	6503	SO:0001583	missense	388341							g.chr17:16347302G>T																												ENST00000409083.3:c.519C>A	17.37:g.16347302G>T	ENSP00000386504:p.His173Gln					C17orf76_uc002gqh.2_Missense_Mutation_p.H173Q|NCRNA00188_uc010vwl.1_Intron|NCRNA00188_uc010vwm.1_Intron|NCRNA00188_uc010vwn.1_Intron|NCRNA00188_uc010cpe.2_Intron|NCRNA00188_uc010vwo.1_Intron|NCRNA00188_uc010vwp.1_Intron|C17orf76_uc002gqg.1_3'UTR	p.T212K	NM_001113567	NP_001107039	Q8NAA5	CQ076_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)	4	811	-			212			LRR 1.			Missense_Mutation	SNP	ENST00000409083.3	37	c.635C>A	CCDS11178.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.472593|4.472593	0.84640|0.84640	.|.	.|.	ENSG00000181350|ENSG00000181350	ENST00000409083|ENST00000470794	.|T	.|0.53423	.|0.62	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.414762|.	0.26481|.	N|.	0.024128|.	T|T	0.69015|0.69015	0.3064|0.3064	.|.	.|.	.|.	0.45995|0.45995	D|D	0.998804|0.998804	B|D	0.22414|0.76494	0.069|0.999	B|D	0.24155|0.67382	0.051|0.951	T|T	0.72475|0.72475	-0.4282|-0.4282	8|8	0.87932|0.72032	D|D	0|0.01	.|.	16.9113|16.9113	0.86141|0.86141	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	173|212	Q8NAA5-2|Q8NAA5	.|CQ076_HUMAN	Q|K	173|212	.|ENSP00000419502:T212K	ENSP00000386504:H173Q|ENSP00000419502:T212K	H|T	-|-	3|2	2|0	C17orf76|C17orf76	16288027|16288027	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.994000|0.994000	0.84299|0.84299	7.479000|7.479000	0.81095|0.81095	2.680000|2.680000	0.91292|0.91292	0.561000|0.561000	0.74099|0.74099	CAC|ACA		0.657	FAM211A-001	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130461.2			18	55	1	0	5.01e-05	5.3e-05	18	55				
KRTAP4-5	85289	broad.mit.edu	37	17	39305733	39305733	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:39305733C>A	ENST00000343246.4	-	1	321	c.287G>T	c.(286-288)tGc>tTc	p.C96F		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	96	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gctggggcagcagcaggtggt	0.662																																						uc002hwb.2		NA																	0					0						c.(286-288)TGC>TTC		keratin associated protein 4-5							19.0	25.0	23.0					17																	39305733		2168	4257	6425	SO:0001583	missense	85289					keratin filament		g.chr17:39305733C>A	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.287G>T	17.37:g.39305733C>A	ENSP00000340546:p.Cys96Phe						p.C96F	NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	322	-		Breast(137;0.000496)	101			27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].|17.			Missense_Mutation	SNP	ENST00000343246.4	37	c.287G>T	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	15.52	2.858942	0.51376	.	.	ENSG00000198271	ENST00000343246	T	0.03004	4.08	3.99	3.99	0.46301	.	0.000000	0.40469	U	0.001083	T	0.23766	0.0575	H	0.96547	3.84	0.31979	N	0.606088	D	0.55172	0.97	P	0.58820	0.846	T	0.52026	-0.8630	10	0.87932	D	0	.	13.928	0.63975	0.0:1.0:0.0:0.0	.	101	Q9BYR2	KRA45_HUMAN	F	96	ENSP00000340546:C96F	ENSP00000340546:C96F	C	-	2	0	KRTAP4-5	36559259	0.004000	0.15560	0.971000	0.41717	0.386000	0.30323	0.993000	0.29680	2.194000	0.70268	0.491000	0.48974	TGC		0.662	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			14	39	1	0	2.35e-11	2.64e-11	14	39				
SLC4A1	6521	broad.mit.edu	37	17	42335957	42335957	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:42335957C>G	ENST00000262418.6	-	10	1066	c.911G>C	c.(910-912)cGa>cCa	p.R304P	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	304	Dimerization arm.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGCTCCCCTCGGCTCTGAGC	0.647																																						uc002igf.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(910-912)CGA>CCA		solute carrier family 4, anion exchanger, member							30.0	31.0	31.0					17																	42335957		2200	4297	6497	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42335957C>G		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.911G>C	17.37:g.42335957C>G	ENSP00000262418:p.Arg304Pro					SLC4A1_uc002igg.3_Missense_Mutation_p.R304P	p.R304P	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	10	1060	-		Breast(137;0.014)|Prostate(33;0.0181)	304			Cytoplasmic.		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.911G>C	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	N	12.13	1.846726	0.32606	.	.	ENSG00000004939	ENST00000262418	T	0.70516	-0.49	4.5	-2.83	0.05769	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.891618	0.09533	N	0.789286	T	0.78698	0.4324	M	0.86953	2.85	0.09310	N	0.999999	D;P	0.65815	0.995;0.886	P;P	0.58172	0.834;0.654	T	0.68394	-0.5420	10	0.87932	D	0	.	4.3078	0.10956	0.1114:0.6135:0.1092:0.166	.	304;304	E2RVJ0;P02730	.;B3AT_HUMAN	P	304	ENSP00000262418:R304P	ENSP00000262418:R304P	R	-	2	0	SLC4A1	39691483	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.342000	0.19926	-0.735000	0.04837	0.306000	0.20318	CGA		0.647	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		5	27	0	0	0	0	5	27				
RNF213	57674	broad.mit.edu	37	17	78321813	78321813	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:78321813C>T	ENST00000582970.1	+	29	9821	c.9678C>T	c.(9676-9678)tgC>tgT	p.C3226C	RNF213_ENST00000508628.2_Silent_p.C3275C|RNF213_ENST00000336301.6_Silent_p.C1299C	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3226					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGGACGCCTGCGCGTCTGTGG	0.562																																						uc002jyh.1		NA																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(3895-3897)TGC>TGT		ring finger protein 213							55.0	54.0	54.0					17																	78321813		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78321813C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9678C>T	17.37:g.78321813C>T							p.C1299C	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		4	4120	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.3897C>T	CCDS58606.1																																																																																				0.562	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		6	30	0	0	0	0	6	30				
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr18:14513734C>T	ENST00000358970.5	-	10	1459	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	487								p.G487E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTGATATTCCAGTGTTCTG	0.323																																						uc010dln.2		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	skin(3)	3						c.(1459-1461)GGA>GAA		ANKRD26-like family B, member 2							15.0	16.0	16.0					18																	14513734		681	1554	2235	SO:0001583	missense	388468							g.chr18:14513734C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1460G>A	18.37:g.14513734C>T	ENSP00000351856:p.Gly487Glu					POTEC_uc010xaj.1_RNA	p.G487E	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			10	1914	-			487						Missense_Mutation	SNP	ENST00000358970.5	37	c.1460G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.006144	0.00426	.	.	ENSG00000183206	ENST00000358970	T	0.27104	1.69	1.38	1.38	0.22167	.	.	.	.	.	T	0.18551	0.0445	L	0.44542	1.39	0.09310	N	1	P	0.50443	0.935	B	0.39094	0.29	T	0.16247	-1.0409	9	0.66056	D	0.02	.	6.1352	0.20227	0.0:1.0:0.0:0.0	.	487	B2RU33	POTEC_HUMAN	E	487	ENSP00000351856:G487E	ENSP00000351856:G487E	G	-	2	0	POTEC	14503734	0.983000	0.35010	0.019000	0.16419	0.011000	0.07611	2.828000	0.48120	1.049000	0.40321	0.205000	0.17691	GGA		0.323	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	109	0	0	0	0	5	109				
ROCK1	6093	broad.mit.edu	37	18	18534783	18534783	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr18:18534783G>T	ENST00000399799.2	-	31	4754	c.3814C>A	c.(3814-3816)Cac>Aac	p.H1272N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1272	Auto-inhibitory.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTATCTAAGTGATCTCTGTGG	0.393																																						uc002kte.2		NA																	0				lung(2)|breast(2)|central_nervous_system(1)	5						c.(3814-3816)CAC>AAC		Rho-associated, coiled-coil containing protein							74.0	69.0	71.0					18																	18534783		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18534783G>T		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3814C>A	18.37:g.18534783G>T	ENSP00000382697:p.His1272Asn						p.H1272N	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			31	4755	-	Melanoma(1;0.165)		1272			PH.|Auto-inhibitory.|Phorbol-ester/DAG-type.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.3814C>A	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	15.14	2.746178	0.49151	.	.	ENSG00000067900	ENST00000399799	T	0.29655	1.56	5.63	5.63	0.86233	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.60958	0.2309	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.64706	-0.6344	10	0.87932	D	0	.	19.6682	0.95900	0.0:0.0:1.0:0.0	.	1272	Q13464	ROCK1_HUMAN	N	1272	ENSP00000382697:H1272N	ENSP00000382697:H1272N	H	-	1	0	ROCK1	16788781	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.810000	0.99221	2.636000	0.89361	0.543000	0.68304	CAC		0.393	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		11	195	1	0	1.15e-07	1.24e-07	11	195				
CCDC102B	79839	broad.mit.edu	37	18	66541993	66541993	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr18:66541993G>A	ENST00000360242.5	+	5	1141	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	CCDC102B_ENST00000319445.6_Missense_Mutation_p.D342N|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D342N|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D342N	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	342										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AAACAGCAAAGACAGAGTGAT	0.333																																						uc002lkk.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(1024-1026)GAC>AAC		coiled-coil domain containing 102B							103.0	91.0	95.0					18																	66541993		2203	4300	6503	SO:0001583	missense	79839							g.chr18:66541993G>A	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1024G>A	18.37:g.66541993G>A	ENSP00000353377:p.Asp342Asn					CCDC102B_uc002lki.2_Missense_Mutation_p.D342N|CCDC102B_uc002lkj.1_Missense_Mutation_p.D342N	p.D342N	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN			7	1247	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	342					Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	c.1024G>A	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	g	3.729	-0.055935	0.07362	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.25414	2.33;1.8;2.33	4.44	3.56	0.40772	.	0.376195	0.22557	N	0.058508	T	0.26159	0.0638	M	0.69523	2.12	0.09310	N	1	B;B	0.27498	0.18;0.18	B;B	0.31442	0.13;0.13	T	0.21518	-1.0243	10	0.15066	T	0.55	-7.8424	8.5241	0.33293	0.1098:0.0:0.8901:0.0	.	342;342	Q68D86-3;Q68D86	.;C102B_HUMAN	N	342	ENSP00000316237:D342N;ENSP00000351479:D342N;ENSP00000353377:D342N	ENSP00000316237:D342N	D	+	1	0	CCDC102B	64692973	0.756000	0.28383	0.021000	0.16686	0.074000	0.17049	1.721000	0.38032	0.980000	0.38523	0.591000	0.81541	GAC		0.333	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		9	87	0	0	0	0	9	87				
CCDC102B	79839	broad.mit.edu	37	18	66564499	66564499	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr18:66564499G>T	ENST00000360242.5	+	6	1214	c.1097G>T	c.(1096-1098)aGg>aTg	p.R366M	CCDC102B_ENST00000319445.6_Missense_Mutation_p.R366M|CCDC102B_ENST00000584156.1_Missense_Mutation_p.R366M|RP11-861L17.3_ENST00000584226.1_5'Flank|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.R366M	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	366										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGGGACAAGAGGGAAATACTT	0.403																																						uc002lkk.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(1096-1098)AGG>ATG		coiled-coil domain containing 102B							109.0	118.0	115.0					18																	66564499		2203	4300	6503	SO:0001583	missense	79839							g.chr18:66564499G>T	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1097G>T	18.37:g.66564499G>T	ENSP00000353377:p.Arg366Met					CCDC102B_uc002lki.2_Missense_Mutation_p.R366M|CCDC102B_uc002lkj.1_Missense_Mutation_p.R366M	p.R366M	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN			8	1320	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	366			Potential.		Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	c.1097G>T	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008535	0.35415	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.58060	0.98;0.36;0.98	5.43	4.54	0.55810	.	0.088865	0.48767	D	0.000177	T	0.71056	0.3295	M	0.75085	2.285	0.30227	N	0.796277	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.72934	-0.4141	10	0.66056	D	0.02	-18.4184	13.7761	0.63055	0.0:0.1551:0.8449:0.0	.	366;366	Q68D86-3;Q68D86	.;C102B_HUMAN	M	366	ENSP00000316237:R366M;ENSP00000351479:R366M;ENSP00000353377:R366M	ENSP00000316237:R366M	R	+	2	0	CCDC102B	64715479	1.000000	0.71417	0.993000	0.49108	0.961000	0.63080	3.589000	0.53972	1.262000	0.44165	0.561000	0.74099	AGG		0.403	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		24	105	1	0	1.66e-10	1.84e-10	24	105				
TSHZ1	10194	broad.mit.edu	37	18	72999255	72999255	+	Silent	SNP	G	G	A	rs145239521		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr18:72999255G>A	ENST00000580243.1	+	2	2241	c.1893G>A	c.(1891-1893)ccG>ccA	p.P631P	TSHZ1_ENST00000322038.5_Silent_p.P586P			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	631					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGCCCCCACCGCACAAGAGCA	0.632																																						uc002lly.2		NA																	0					0						c.(1756-1758)CCG>CCA		teashirt family zinc finger 1		G		1,4401	2.1+/-5.4	0,1,2200	62.0	52.0	56.0		1758	-4.8	1.0	18	dbSNP_134	56	0,8590		0,0,4295	no	coding-synonymous	TSHZ1	NM_005786.4		0,1,6495	AA,AG,GG		0.0,0.0227,0.0077		586/1033	72999255	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999255G>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1893G>A	18.37:g.72999255G>A							p.P586P	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2321	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	631					O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.1758G>A																																																																																					0.632	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		3	60	0	0	0	0	3	60				
ISYNA1	51477	broad.mit.edu	37	19	18546863	18546863	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:18546863G>T	ENST00000338128.8	-	7	1171	c.954C>A	c.(952-954)ttC>ttA	p.F318L	ISYNA1_ENST00000457269.4_Missense_Mutation_p.F264L|ISYNA1_ENST00000317018.6_Missense_Mutation_p.F116L|ISYNA1_ENST00000545187.1_Missense_Mutation_p.F168L|ISYNA1_ENST00000578963.1_Missense_Mutation_p.F190L	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	318					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						AGCCAATGAGGAAGTCCACAA	0.652																																						uc002njd.1		NA																	0				ovary(1)|pancreas(1)	2						c.(952-954)TTC>TTA		inositol-3-phosphate synthase 1							33.0	38.0	36.0					19																	18546863		2202	4300	6502	SO:0001583	missense	51477				inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	g.chr19:18546863G>T		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"""myo-inositol 1-phosphate synthase"""	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.954C>A	19.37:g.18546863G>T	ENSP00000337746:p.Phe318Leu					ISYNA1_uc002nja.1_Missense_Mutation_p.F190L|ISYNA1_uc002njb.1_Missense_Mutation_p.F236L|ISYNA1_uc002njc.1_Missense_Mutation_p.F168L|ISYNA1_uc010xqh.1_Missense_Mutation_p.F116L|ISYNA1_uc002nje.1_Missense_Mutation_p.F264L|ISYNA1_uc002njf.1_Missense_Mutation_p.F168L	p.F318L	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN			7	1004	-			318					B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Missense_Mutation	SNP	ENST00000338128.8	37	c.954C>A	CCDS12379.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085007	0.36758	.	.	ENSG00000105655	ENST00000338128;ENST00000457269;ENST00000545187;ENST00000317018	.	.	.	4.26	2.12	0.27331	Myo-inositol-1-phosphate synthase, GAPDH-like (1);	0.000000	0.85682	D	0.000000	T	0.77458	0.4133	M	0.87682	2.9	0.53688	D	0.999978	D;P;D;D	0.76494	0.978;0.851;0.999;0.972	D;P;D;P	0.74674	0.913;0.733;0.984;0.771	T	0.77040	-0.2735	9	0.72032	D	0.01	-31.874	7.9782	0.30168	0.2043:0.0:0.7957:0.0	.	116;264;318;168	B7Z3K3;G5E9U0;Q9NPH2;G3V1R9	.;.;INO1_HUMAN;.	L	318;264;168;116	.	ENSP00000315147:F116L	F	-	3	2	ISYNA1	18407863	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.799000	0.47892	0.554000	0.29061	0.561000	0.74099	TTC		0.652	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368		12	35	1	0	7.04e-09	7.63e-09	12	35				
ZNF708	7562	broad.mit.edu	37	19	21476477	21476477	+	Missense_Mutation	SNP	T	T	C	rs149009596		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:21476477T>C	ENST00000356929.3	-	4	1488	c.1291A>G	c.(1291-1293)Ata>Gta	p.I431V		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	367					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(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ATTGAGAATATACTAAAGGCT	0.328																																						uc002npq.1		NA																	0				central_nervous_system(4)|skin(2)	6						c.(1291-1293)ATA>GTA		zinc finger protein 708		T	VAL/ILE	1,4401		0,1,2200	42.0	44.0	43.0		1291	-2.1	0.0	19	dbSNP_134	43	0,8594		0,0,4297	no	missense	ZNF708	NM_021269.2	29	0,1,6497	CC,CT,TT		0.0,0.0227,0.0077	benign	431/564	21476477	1,12995	2201	4297	6498	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476477T>C	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1291A>G	19.37:g.21476477T>C	ENSP00000349401:p.Ile431Val					ZNF708_uc002npr.1_Missense_Mutation_p.I367V|ZNF708_uc010ecs.1_Missense_Mutation_p.I367V	p.I431V	NM_021269	NP_067092	P17019	ZN708_HUMAN			4	1489	-			431			C2H2-type 11.		Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.1291A>G	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.142754	0.00332	2.27E-4	0.0	ENSG00000182141	ENST00000356929	T	0.35605	1.3	1.05	-2.1	0.07210	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11965	0.0291	N	0.03224	-0.385	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.18777	-1.0326	9	0.16420	T	0.52	.	2.4692	0.04560	0.4583:0.0:0.2297:0.312	.	431	P17019	ZN708_HUMAN	V	431	ENSP00000349401:I431V	ENSP00000349401:I431V	I	-	1	0	ZNF708	21268317	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.643000	0.00405	-1.801000	0.01245	-1.974000	0.00461	ATA		0.328	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		20	70	0	0	0	0	20	70				
ZBTB32	27033	broad.mit.edu	37	19	36207617	36207617	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:36207617C>T	ENST00000392197.2	+	7	1745	c.1427C>T	c.(1426-1428)tCg>tTg	p.S476L	KMT2B_ENST00000222270.7_5'Flank|KMT2B_ENST00000341701.1_5'Flank|KMT2B_ENST00000420124.1_5'Flank|ZBTB32_ENST00000262630.3_Missense_Mutation_p.S476L|KMT2B_ENST00000607650.1_RNA			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	476					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTCGGCCCTCGACCTCTCCC	0.632											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002oay.2		NA																	0				ovary(1)|skin(1)	2						c.(1426-1428)TCG>TTG		zinc finger and BTB domain containing 32							96.0	88.0	90.0					19																	36207617		2203	4300	6503	SO:0001583	missense	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36207617C>T	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.1427C>T	19.37:g.36207617C>T	ENSP00000376035:p.Ser476Leu		OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861	ZBTB32_uc002oaz.2_RNA|MLL4_uc010eei.2_5'Flank	p.S476L	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	1637	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		476					Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	37	c.1427C>T	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119462	0.77323	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.09723	2.95;2.95	4.34	2.21	0.28008	.	0.875698	0.09545	N	0.787804	T	0.05090	0.0136	N	0.24115	0.695	0.21064	N	0.999799	P	0.43662	0.814	B	0.24269	0.052	T	0.35968	-0.9767	10	0.36615	T	0.2	-0.3384	6.4038	0.21652	0.0:0.7765:0.0:0.2235	.	476	Q9Y2Y4	ZBT32_HUMAN	L	476	ENSP00000262630:S476L;ENSP00000376035:S476L	ENSP00000262630:S476L	S	+	2	0	ZBTB32	40899457	0.423000	0.25482	0.094000	0.20943	0.776000	0.43924	0.808000	0.27154	0.565000	0.29255	0.462000	0.41574	TCG		0.632	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		21	158	0	0	0	0	21	158				
ZFP82	284406	broad.mit.edu	37	19	36883703	36883703	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:36883703C>T	ENST00000392161.3	-	5	1781	c.1539G>A	c.(1537-1539)aaG>aaA	p.K513K	ZFP82_ENST00000392171.1_Silent_p.K513K	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	513					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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCCTAAAGGCCTTCTTACATT	0.338																																						uc002ody.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1537-1539)AAG>AAA		zinc finger protein 82 homolog							60.0	60.0	60.0					19																	36883703		2203	4300	6503	SO:0001819	synonymous_variant	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36883703C>T	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1539G>A	19.37:g.36883703C>T							p.K513K	NM_133466	NP_597723	Q8N141	ZFP82_HUMAN			5	1774	-			513			C2H2-type 13.		Q8NC63|Q8TF53	Silent	SNP	ENST00000392161.3	37	c.1539G>A	CCDS12493.1																																																																																				0.338	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		19	79	0	0	0	0	19	79				
HKR1	284459	broad.mit.edu	37	19	37853704	37853704	+	Missense_Mutation	SNP	G	G	A	rs200183559		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:37853704G>A	ENST00000324411.4	+	6	1276	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	HKR1_ENST00000392153.3_Missense_Mutation_p.R317Q|HKR1_ENST00000544914.1_Missense_Mutation_p.R63Q|HKR1_ENST00000541583.2_Missense_Mutation_p.R275Q|HKR1_ENST00000589392.1_Missense_Mutation_p.R318Q|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000591471.1_Missense_Mutation_p.R63Q	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	336					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATTGTGGACGAGGCTTTACT	0.507																																						uc002ogb.2		NA																	0				ovary(2)	2						c.(1006-1008)CGA>CAA		GLI-Kruppel family member HKR1							104.0	97.0	99.0					19																	37853704		2203	4300	6503	SO:0001583	missense	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37853704G>A	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1007G>A	19.37:g.37853704G>A	ENSP00000315505:p.Arg336Gln					HKR1_uc002ofx.2_Missense_Mutation_p.R52Q|HKR1_uc002ofy.2_Missense_Mutation_p.R52Q|HKR1_uc002oga.2_Missense_Mutation_p.R318Q|HKR1_uc010xto.1_Missense_Mutation_p.R318Q|HKR1_uc002ogc.2_Missense_Mutation_p.R317Q|HKR1_uc010xtp.1_Missense_Mutation_p.R275Q|HKR1_uc002ogd.2_Missense_Mutation_p.R275Q	p.R336Q	NM_181786	NP_861451	P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1276	+			336			C2H2-type 2.		A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	c.1007G>A	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530001	0.64860	.	.	ENSG00000181666	ENST00000544914;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	3.05	0.88	0.19161	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31136	0.0787	L	0.52266	1.64	0.80722	D	1	D;D;B;P	0.65815	0.995;0.994;0.302;0.822	P;P;B;B	0.62649	0.905;0.842;0.032;0.259	T	0.08806	-1.0704	9	0.72032	D	0.01	-3.1516	6.3066	0.21141	0.3555:0.0:0.6445:0.0	.	275;317;336;318	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	Q	63;317;372;336;275	ENSP00000437774:R63Q;ENSP00000375994:R317Q;ENSP00000315505:R336Q;ENSP00000438261:R275Q	ENSP00000315505:R336Q	R	+	2	0	HKR1	42545544	0.003000	0.15002	0.996000	0.52242	0.996000	0.88848	1.282000	0.33226	0.607000	0.29982	0.650000	0.86243	CGA		0.507	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		14	118	0	0	0	0	14	118				
HNRNPL	3191	broad.mit.edu	37	19	39340525	39340525	+	Missense_Mutation	SNP	G	G	C	rs371221066	byFrequency	TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:39340525G>C	ENST00000221419.5	-	1	448	c.82C>G	c.(82-84)Cgg>Ggg	p.R28G	HNRNPL_ENST00000600873.1_Intron	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	28					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GCTCCCGACCGCCTCCGCTGC	0.771																																						uc010xul.1		NA																	0					0						c.(82-84)CGG>GGG		heterogeneous nuclear ribonucleoprotein L							3.0	4.0	4.0					19																	39340525		1231	2741	3972	SO:0001583	missense	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39340525G>C	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.82C>G	19.37:g.39340525G>C	ENSP00000221419:p.Arg28Gly					HNRNPL_uc010xum.1_Intron	p.R28G	NM_001533	NP_001524	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		1	93	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		28					A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	37	c.82C>G	CCDS33015.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457570	0.63401	.	.	ENSG00000104824	ENST00000221419	.	.	.	4.37	4.37	0.52481	.	0.000000	0.30085	N	0.010449	T	0.28101	0.0693	N	0.08118	0	0.80722	D	1	P	0.39748	0.686	B	0.37451	0.25	T	0.25047	-1.0143	9	0.59425	D	0.04	.	12.2833	0.54776	0.0:0.0:1.0:0.0	.	28	P14866	HNRPL_HUMAN	G	28	.	ENSP00000221419:R28G	R	-	1	2	HNRNPL	44032365	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.341000	0.59335	2.265000	0.75225	0.462000	0.41574	CGG		0.771	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			3	1	0	0	0	0	3	1				
FCGBP	8857	broad.mit.edu	37	19	40357679	40357679	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:40357679C>G	ENST00000221347.6	-	34	15641	c.15634G>C	c.(15634-15636)Ggc>Cgc	p.G5212R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5212	Cys-rich.					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)			GGTGGGCAGCCAGCTGCCTGG	0.622																																						uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(15634-15636)GGC>CGC		Fc fragment of IgG binding protein precursor							73.0	58.0	63.0					19																	40357679		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40357679C>G	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.15634G>C	19.37:g.40357679C>G	ENSP00000221347:p.Gly5212Arg						p.G5212R	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		34	15642	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5212			Cys-rich.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.15634G>C	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413641	0.83449	.	.	ENSG00000090920	ENST00000221347	T	0.04360	3.64	4.69	-3.25	0.05079	Follistatin-like, N-terminal (1);	0.886075	0.09591	U	0.781466	T	0.09730	0.0239	M	0.68952	2.095	0.09310	N	1	P	0.50156	0.932	P	0.52758	0.708	T	0.29274	-1.0017	10	0.18276	T	0.48	.	9.3881	0.38356	0.0:0.3053:0.0:0.6947	.	5212	Q9Y6R7	FCGBP_HUMAN	R	5212	ENSP00000221347:G5212R	ENSP00000221347:G5212R	G	-	1	0	FCGBP	45049519	0.000000	0.05858	0.017000	0.16124	0.984000	0.73092	-1.108000	0.03313	-0.341000	0.08376	0.655000	0.94253	GGC		0.622	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		19	72	0	0	0	0	19	72				
GIPR	2696	broad.mit.edu	37	19	46185005	46185005	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:46185005C>G	ENST00000590918.1	+	14	1312	c.1213C>G	c.(1213-1215)Cgt>Ggt	p.R405G	GIPR_ENST00000263281.3_3'UTR|GIPR_ENST00000304207.8_Missense_Mutation_p.R369G	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	405					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GGAGATCCGCCGTGGCTGGCA	0.776																																						uc002pcu.1		NA																	0				skin(1)	1						c.(1213-1215)CGT>GGT		gastric inhibitory polypeptide receptor							8.0	10.0	9.0					19																	46185005		2102	4142	6244	SO:0001583	missense	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46185005C>G		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.1213C>G	19.37:g.46185005C>G	ENSP00000467494:p.Arg405Gly					GIPR_uc002pct.1_3'UTR|GIPR_uc010xxp.1_Missense_Mutation_p.R369G|GIPR_uc010xxq.1_RNA	p.R405G	NM_000164	NP_000155	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	14	1312	+		Ovarian(192;0.051)|all_neural(266;0.112)	405			Cytoplasmic (Potential).		B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	ENST00000590918.1	37	c.1213C>G	CCDS12671.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464481	0.63513	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	T	0.65732	-0.17	5.2	4.12	0.48240	.	0.390532	0.19015	N	0.124969	T	0.59500	0.2198	M	0.77820	2.39	0.27808	N	0.942238	B;P	0.44090	0.04;0.826	B;B	0.37346	0.052;0.247	T	0.65092	-0.6252	10	0.87932	D	0	.	10.0439	0.42175	0.2148:0.7852:0.0:0.0	.	369;405	B7WP14;P48546	.;GIPR_HUMAN	G	405;369	ENSP00000305321:R369G	ENSP00000263281:R405G	R	+	1	0	GIPR	50876845	0.999000	0.42202	0.959000	0.39883	0.984000	0.73092	2.398000	0.44486	2.705000	0.92388	0.561000	0.74099	CGT		0.776	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			7	7	0	0	0	0	7	7				
DMPK	1760	broad.mit.edu	37	19	46281829	46281829	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:46281829G>A	ENST00000291270.4	-	5	628	c.503C>T	c.(502-504)cCg>cTg	p.P168L	DMPK_ENST00000343373.4_Missense_Mutation_p.P178L|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000447742.2_Missense_Mutation_p.P168L|DMPK_ENST00000354227.5_Missense_Mutation_p.P168L|DMPK_ENST00000458663.2_Missense_Mutation_p.P168L|DMPK_ENST00000600757.1_Missense_Mutation_p.P178L	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	168	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CATCTCGGCCGGAATCCGCTC	0.612																																					Esophageal Squamous(35;307 869 9153 24033 28903)	uc002pdd.1		NA																	0				lung(3)	3						c.(532-534)CCG>CTG		myotonic dystrophy protein kinase isoform 1							80.0	71.0	74.0					19																	46281829		2203	4300	6503	SO:0001583	missense	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46281829G>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.503C>T	19.37:g.46281829G>A	ENSP00000291270:p.Pro168Leu					DMPK_uc010xxs.1_Missense_Mutation_p.P79L|DMPK_uc002pde.1_Missense_Mutation_p.P178L|DMPK_uc002pdf.1_Missense_Mutation_p.P168L|DMPK_uc002pdg.1_Missense_Mutation_p.P168L|DMPK_uc002pdh.1_Missense_Mutation_p.P168L|DMPK_uc002pdi.1_Missense_Mutation_p.P194L|DMPK_uc010xxt.1_Missense_Mutation_p.P168L|DMPK_uc010xxu.1_3'UTR	p.P178L	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	4	1077	-		Ovarian(192;0.0308)|all_neural(266;0.112)	178			Protein kinase.		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	c.533C>T	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	g	34	5.294184	0.95546	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.98	4.98	0.66077	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	0.41938	D	0.000793	T	0.62208	0.2409	M	0.62266	1.93	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.95;0.999;0.999;1.0;1.0;1.0;1.0;1.0	T	0.65022	-0.6269	10	0.87932	D	0	.	15.7624	0.78096	0.0:0.0:1.0:0.0	.	168;168;194;168;168;168;215;178	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	L	168;194;168;168;168;178;178;168	ENSP00000401753:P168L;ENSP00000291270:P168L;ENSP00000413417:P168L;ENSP00000345997:P178L;ENSP00000346168:P168L	ENSP00000291270:P168L	P	-	2	0	DMPK	50973669	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	9.411000	0.97342	2.579000	0.87056	0.655000	0.94253	CCG		0.612	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		3	66	0	0	0	0	3	66				
ZNF264	9422	broad.mit.edu	37	19	57724189	57724189	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:57724189C>A	ENST00000263095.6	+	4	2138	c.1724C>A	c.(1723-1725)cCt>cAt	p.P575H	ZNF264_ENST00000536056.1_Missense_Mutation_p.P575H	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	575					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(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GTGGGAAGACCTTTTACAAGT	0.443																																						uc002qob.2		NA																	0				ovary(2)	2						c.(1723-1725)CCT>CAT		zinc finger protein 264							107.0	104.0	105.0					19																	57724189		2203	4300	6503	SO:0001583	missense	9422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57724189C>A	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1724C>A	19.37:g.57724189C>A	ENSP00000263095:p.Pro575His						p.P575H	NM_003417	NP_003408	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	4	2137	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	575					A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	c.1724C>A	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861426	0.51482	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.05717	3.4;3.4	2.35	2.35	0.29111	.	.	.	.	.	T	0.07638	0.0192	N	0.13140	0.3	0.25309	N	0.989213	D	0.63046	0.992	P	0.52710	0.707	T	0.34850	-0.9812	9	0.66056	D	0.02	.	10.7906	0.46429	0.0:1.0:0.0:0.0	.	575	O43296	ZN264_HUMAN	H	575	ENSP00000263095:P575H;ENSP00000440376:P575H	ENSP00000263095:P575H	P	+	2	0	ZNF264	62416001	0.000000	0.05858	0.007000	0.13788	0.212000	0.24457	-0.119000	0.10676	1.644000	0.50603	0.491000	0.48974	CCT		0.443	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			32	129	1	0	1.63e-12	1.84e-12	32	129				
ZNF547	284306	broad.mit.edu	37	19	57889289	57889289	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:57889289G>C	ENST00000282282.3	+	4	1095	c.945G>C	c.(943-945)caG>caC	p.Q315H	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	315					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(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTAGACATCAGAGAGTTCACA	0.413																																						uc002qol.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(943-945)CAG>CAC		zinc finger protein 547							108.0	106.0	107.0					19																	57889289		2203	4300	6503	SO:0001583	missense	284306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57889289G>C	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.945G>C	19.37:g.57889289G>C	ENSP00000282282:p.Gln315His					ZNF547_uc002qpm.3_Missense_Mutation_p.Q241H|ZNF547_uc010ygx.1_Missense_Mutation_p.Q315H	p.Q315H	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1138	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	315			C2H2-type 7.		A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	c.945G>C	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804978	0.50315	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.18502	2.21	1.76	-0.581	0.11713	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22898	0.0553	L	0.33189	0.99	0.09310	N	1	B;D;D	0.71674	0.369;0.996;0.998	B;P;D	0.79108	0.046;0.908;0.992	T	0.13522	-1.0506	9	0.59425	D	0.04	.	2.8569	0.05575	0.2841:0.0:0.4948:0.2212	.	315;315;315	Q8IVP9-2;C9JTQ3;Q8IVP9	.;.;ZN547_HUMAN	H	315	ENSP00000282282:Q315H	ENSP00000282282:Q315H	Q	+	3	2	ZNF547	62581101	0.000000	0.05858	0.003000	0.11579	0.963000	0.63663	-0.100000	0.10990	-0.071000	0.12886	0.484000	0.47621	CAG		0.413	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		17	142	0	0	0	0	17	142				
ZNF544	27300	broad.mit.edu	37	19	58772562	58772562	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:58772562A>G	ENST00000596652.1	+	6	824	c.590A>G	c.(589-591)aAt>aGt	p.N197S	ZNF544_ENST00000600220.1_Missense_Mutation_p.N169S|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000269829.4_Missense_Mutation_p.N197S|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.N169S|ZNF544_ENST00000599953.1_Missense_Mutation_p.N55S|ZNF544_ENST00000599227.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.N169S|ZNF544_ENST00000595981.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TTGAAACAAAATTCAGCTTTC	0.383																																						uc010euo.2		NA																	0				pancreas(1)	1						c.(589-591)AAT>AGT		zinc finger protein 544							60.0	58.0	58.0					19																	58772562		2203	4299	6502	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58772562A>G	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.590A>G	19.37:g.58772562A>G	ENSP00000469635:p.Asn197Ser					ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.N169S|ZNF544_uc010yhy.1_Missense_Mutation_p.N169S|ZNF544_uc002qrt.3_Missense_Mutation_p.N55S|ZNF544_uc002qru.3_Missense_Mutation_p.N55S|uc002qrx.1_Intron	p.N197S	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	1064	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	197					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.590A>G	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	A	0.092	-1.164903	0.01673	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.08282	3.12;3.11	3.37	1.07	0.20283	.	.	.	.	.	T	0.03095	0.0091	N	0.04669	-0.19	0.09310	N	1	B;B;B	0.22800	0.075;0.011;0.005	B;B;B	0.19148	0.019;0.014;0.024	T	0.47275	-0.9130	9	0.18710	T	0.47	.	3.8725	0.09042	0.4257:0.1949:0.0:0.3794	.	169;169;197	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	S	197;169	ENSP00000269829:N197S;ENSP00000394341:N169S	ENSP00000269829:N197S	N	+	2	0	ZNF544	63464374	0.000000	0.05858	0.005000	0.12908	0.018000	0.09664	0.269000	0.18589	0.025000	0.15241	-0.291000	0.09656	AAT		0.383	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		17	88	0	0	0	0	17	88				
DNMT3A	1788	broad.mit.edu	37	2	25468890	25468890	+	Splice_Site	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:25468890C>G	ENST00000264709.3	-	12	1810	c.1473G>C	c.(1471-1473)gaG>gaC	p.E491D	DNMT3A_ENST00000402667.1_Splice_Site_p.E268D|DNMT3A_ENST00000380746.4_Splice_Site_p.E302D|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Splice_Site_p.E491D	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	491	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAACTTACCCTCAATGTTCC	0.607			"""Mis, F, N, S"""		AML																																	uc002rgc.2		NA		Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(1471-1473)GAG>GAC		DNA cytosine methyltransferase 3 alpha isoform							131.0	101.0	111.0					2																	25468890		2203	4300	6503	SO:0001630	splice_region_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25468890C>G		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1474+1G>C	2.37:g.25468890C>G						DNMT3A_uc002rgd.2_Missense_Mutation_p.E491D|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.E302D	p.E491D	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			12	1730	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		491			ADD.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1473G>C	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700882	0.30142	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.26	0.655	0.17839	.	0.000000	0.85682	D	0.000000	T	0.33527	0.0866	M	0.76727	2.345	0.80722	D	1	B;B	0.15473	0.013;0.001	B;B	0.12837	0.008;0.001	T	0.13845	-1.0494	10	0.46703	T	0.11	-15.1036	7.0024	0.24817	0.0:0.4367:0.0:0.5633	.	491;302	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	D	302;491;491;268	ENSP00000370122:E302D;ENSP00000324375:E491D;ENSP00000264709:E491D;ENSP00000384237:E268D	ENSP00000264709:E491D	E	-	3	2	DNMT3A	25322394	0.821000	0.29204	0.997000	0.53966	0.257000	0.26127	-0.078000	0.11375	0.267000	0.21916	-0.345000	0.07892	GAG		0.607	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	Missense_Mutation	11	79	0	0	0	0	11	79				
FAM179A	165186	broad.mit.edu	37	2	29249763	29249763	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:29249763C>G	ENST00000379558.4	+	14	2249	c.1898C>G	c.(1897-1899)tCa>tGa	p.S633*	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Nonsense_Mutation_p.S578*	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	633										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGCACCTCTCAGCTGTGCTG	0.597																																						uc010ezl.2		NA																	0				ovary(3)|skin(1)	4						c.(1897-1899)TCA>TGA		hypothetical protein LOC165186							27.0	30.0	29.0					2																	29249763		1968	4135	6103	SO:0001587	stop_gained	165186						binding	g.chr2:29249763C>G	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1898C>G	2.37:g.29249763C>G	ENSP00000368876:p.Ser633*					FAM179A_uc010ymm.1_Nonsense_Mutation_p.S578*|FAM179A_uc002rmr.3_Nonsense_Mutation_p.S160*	p.S633*	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN			14	2249	+			633					Q6ZUF5	Nonsense_Mutation	SNP	ENST00000379558.4	37	c.1898C>G	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196039	0.38806	.	.	ENSG00000189350	ENST00000401723;ENST00000379558;ENST00000403861	.	.	.	4.81	-0.858	0.10689	.	1.294930	0.05506	N	0.559268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	5.8658	0.18775	0.0:0.3178:0.2595:0.4227	.	.	.	.	X	68;633;578	.	ENSP00000368876:S633X	S	+	2	0	FAM179A	29103267	0.000000	0.05858	0.009000	0.14445	0.007000	0.05969	0.423000	0.21313	-0.095000	0.12351	-1.064000	0.02280	TCA		0.597	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		4	10	0	0	0	0	4	10				
BIRC6	57448	broad.mit.edu	37	2	32664671	32664671	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:32664671G>T	ENST00000421745.2	+	16	3861	c.3727G>T	c.(3727-3729)Gta>Tta	p.V1243L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1243					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TATGCGTCCTGTAGTAAGGCT	0.413																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(3727-3729)GTA>TTA		baculoviral IAP repeat-containing 6							123.0	101.0	108.0					2																	32664671		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32664671G>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.3727G>T	2.37:g.32664671G>T	ENSP00000393596:p.Val1243Leu						p.V1243L	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			16	3861	+	Acute lymphoblastic leukemia(172;0.155)		1243					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.3727G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912243	0.92178	.	.	ENSG00000115760	ENST00000421745;ENST00000444173	T	0.74002	-0.8	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	T	0.65964	0.2742	N	0.25647	0.755	0.52501	D	0.999951	B	0.23316	0.083	B	0.21917	0.037	T	0.60125	-0.7324	10	0.35671	T	0.21	.	19.5729	0.95428	0.0:0.0:1.0:0.0	.	1243	Q9NR09	BIRC6_HUMAN	L	1243;129	ENSP00000393596:V1243L	ENSP00000393596:V1243L	V	+	1	0	BIRC6	32518175	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	6.546000	0.73887	2.684000	0.91462	0.650000	0.86243	GTA		0.413	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		3	65	1	0	0.00909568	0.00929129	3	65				
CYP26B1	56603	broad.mit.edu	37	2	72361996	72361996	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:72361996C>T	ENST00000001146.2	-	4	958	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	CYP26B1_ENST00000546307.1_Missense_Mutation_p.R177Q|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R61Q	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	252					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAGCTTCTCCCGGATGGCCTT	0.602																																						uc002sih.1		NA																	0				skin(2)	2						c.(754-756)CGG>CAG		cytochrome P450, family 26, subfamily b,							151.0	120.0	131.0					2																	72361996		2203	4300	6503	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72361996C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.755G>A	2.37:g.72361996C>T	ENSP00000001146:p.Arg252Gln					CYP26B1_uc010yra.1_Missense_Mutation_p.R235Q|CYP26B1_uc010yrb.1_Missense_Mutation_p.R177Q	p.R252Q	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN			4	755	-			252					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.755G>A	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493736	0.64186	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307;ENST00000474509	T;T;T;T	0.68331	-0.27;-0.27;-0.27;-0.32	5.11	5.11	0.69529	.	0.116264	0.56097	D	0.000021	T	0.46964	0.1420	N	0.17379	0.485	0.41508	D	0.988322	B;B;B	0.15719	0.008;0.014;0.001	B;B;B	0.13407	0.009;0.007;0.004	T	0.41980	-0.9478	10	0.30854	T	0.27	-11.7251	8.2972	0.31993	0.0:0.8309:0.0:0.1691	.	177;235;252	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	Q	252;61;177;177	ENSP00000001146:R252Q;ENSP00000401465:R61Q;ENSP00000443304:R177Q;ENSP00000430888:R177Q	ENSP00000001146:R252Q	R	-	2	0	CYP26B1	72215504	0.973000	0.33851	1.000000	0.80357	0.998000	0.95712	2.065000	0.41442	2.544000	0.85801	0.655000	0.94253	CGG		0.602	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		18	70	0	0	0	0	18	70				
GPAT2	150763	broad.mit.edu	37	2	96690176	96690176	+	Splice_Site	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:96690176G>A	ENST00000434632.1	-	16	2127	c.1668C>T	c.(1666-1668)ggC>ggT	p.G556G	GPAT2_ENST00000453542.1_Splice_Site_p.G485G|GPAT2_ENST00000359548.4_Splice_Site_p.G556G|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000377137.3_Splice_Site_p.G556G			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	556					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						AAGACTCACCGCCCACAGCCT	0.632																																						uc002svf.2		NA																	0					0						c.(1666-1668)GGC>GGT		glycerol-3-phosphate acyltransferase 2,							49.0	54.0	53.0					2																	96690176		2144	4225	6369	SO:0001630	splice_region_variant	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96690176G>A	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1669+1C>T	2.37:g.96690176G>A						GPAT2_uc002svd.2_Silent_p.G375G|GPAT2_uc002sve.2_Silent_p.G358G|GPAT2_uc002svg.2_Silent_p.G435G|GPAT2_uc010yuh.1_Silent_p.G485G|GPAT2_uc002svh.2_Silent_p.G556G	p.G556G	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN			15	1891	-			556					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Silent	SNP	ENST00000434632.1	37	c.1668C>T	CCDS42714.1																																																																																				0.632	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328	Silent	9	61	0	0	0	0	9	61				
NCK2	8440	broad.mit.edu	37	2	106497993	106497993	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:106497993G>A	ENST00000233154.4	+	4	878	c.436G>A	c.(436-438)Gac>Aac	p.D146N	NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.D146N|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	146	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						GAAGTGCAGCGACGGTTGGTG	0.637																																						uc002tdg.2		NA																	0				ovary(1)|lung(1)	2						c.(436-438)GAC>AAC		NCK adaptor protein 2 isoform A							81.0	70.0	74.0					2																	106497993		2203	4300	6503	SO:0001583	missense	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106497993G>A	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.436G>A	2.37:g.106497993G>A	ENSP00000233154:p.Asp146Asn					NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.D146N	p.D146N	NM_003581	NP_003572	O43639	NCK2_HUMAN			4	878	+			146			SH3 2.		D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	37	c.436G>A	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637170	0.96693	.	.	ENSG00000071051	ENST00000233154;ENST00000393349	T;T	0.55052	0.54;0.54	5.41	5.41	0.78517	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.71117	0.3302	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72137	-0.4381	10	0.66056	D	0.02	.	19.5465	0.95299	0.0:0.0:1.0:0.0	.	146	O43639	NCK2_HUMAN	N	146	ENSP00000233154:D146N;ENSP00000377018:D146N	ENSP00000233154:D146N	D	+	1	0	NCK2	105864425	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.405000	0.97313	2.700000	0.92200	0.462000	0.41574	GAC		0.637	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		23	40	0	0	0	0	23	40				
GCC2	9648	broad.mit.edu	37	2	109085540	109085540	+	Splice_Site	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:109085540G>C	ENST00000309863.6	+	5	1035	c.321G>C	c.(319-321)gaG>gaC	p.E107D		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	107					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAGAGGTTGAGGTAAGTCAAT	0.303																																						uc002tec.2		NA																	0				ovary(1)	1						c.(319-321)GAG>GAC		GRIP and coiled-coil domain-containing 2							68.0	75.0	73.0					2																	109085540		2203	4300	6503	SO:0001630	splice_region_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109085540G>C	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.321+1G>C	2.37:g.109085540G>C						GCC2_uc002ted.2_Missense_Mutation_p.E6D	p.E107D	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			5	475	+			107					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.321G>C	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979491	0.53827	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409821;ENST00000409896	T	0.35048	1.33	4.67	2.86	0.33363	.	0.190048	0.45606	D	0.000357	T	0.30166	0.0756	L	0.36672	1.1	0.44110	D	0.996881	P	0.46784	0.884	B	0.43838	0.433	T	0.06285	-1.0835	10	0.41790	T	0.15	.	11.3777	0.49737	0.1567:0.0:0.8433:0.0	.	107	Q8IWJ2	GCC2_HUMAN	D	107;107;110;70	ENSP00000307939:E107D	ENSP00000307939:E107D	E	+	3	2	GCC2	108451972	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.775000	0.38584	1.315000	0.45114	0.460000	0.39030	GAG		0.303	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	Missense_Mutation	19	97	0	0	0	0	19	97				
IL36G	56300	broad.mit.edu	37	2	113737637	113737637	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:113737637G>C	ENST00000259205.4	+	4	281	c.212G>C	c.(211-213)aGa>aCa	p.R71T	IL36G_ENST00000376489.2_Missense_Mutation_p.R36T	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	71					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GAGCAAGGCAGAGGGGATCCC	0.423																																						uc002tio.1		NA																	0					0						c.(211-213)AGA>ACA		interleukin 1 family, member 9							94.0	92.0	93.0					2																	113737637		2203	4300	6503	SO:0001583	missense	56300				cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113737637G>C	AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"""Interleukins and interleukin receptors"""	15741	protein-coding gene	gene with protein product	"""interleukin-1 homolog 1"", ""interleukin 1-related protein 2"", ""interleukin-1 epsilon"""	605542	"""interleukin 1 family, member 9"""	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.212G>C	2.37:g.113737637G>C	ENSP00000259205:p.Arg71Thr					IL1F9_uc010fkr.1_Missense_Mutation_p.R36T	p.R71T	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN			4	281	+			71					Q56B91|Q6UVX7|Q7RTZ9	Missense_Mutation	SNP	ENST00000259205.4	37	c.212G>C	CCDS2108.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390804	0.42410	.	.	ENSG00000136688	ENST00000376489;ENST00000259205	T;T	0.56103	2.27;0.48	5.08	-2.0	0.07433	.	0.398820	0.24162	N	0.040968	T	0.42988	0.1227	L	0.44542	1.39	0.09310	N	1	P;B	0.41848	0.763;0.1	P;B	0.44897	0.463;0.102	T	0.41305	-0.9516	10	0.33141	T	0.24	-5.6339	9.1344	0.36866	0.5149:0.0:0.4851:0.0	.	36;71	Q9NZH8-2;Q9NZH8	.;IL36G_HUMAN	T	36;71	ENSP00000365672:R36T;ENSP00000259205:R71T	ENSP00000259205:R71T	R	+	2	0	IL36G	113454108	0.288000	0.24324	0.027000	0.17364	0.442000	0.32017	0.218000	0.17622	-0.424000	0.07382	-0.300000	0.09419	AGA		0.423	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330713.2	NM_019618		13	93	0	0	0	0	13	93				
BIN1	274	broad.mit.edu	37	2	127821184	127821184	+	Missense_Mutation	SNP	G	G	A	rs375697182		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:127821184G>A	ENST00000316724.5	-	9	1148	c.737C>T	c.(736-738)gCg>gTg	p.A246V	BIN1_ENST00000357970.3_Missense_Mutation_p.A246V|BIN1_ENST00000409400.1_Missense_Mutation_p.A215V|BIN1_ENST00000352848.3_Missense_Mutation_p.A215V|BIN1_ENST00000393040.3_Missense_Mutation_p.A215V|BIN1_ENST00000351659.3_Missense_Mutation_p.A246V|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000393041.3_Missense_Mutation_p.A215V|BIN1_ENST00000376113.2_Missense_Mutation_p.A215V|BIN1_ENST00000259238.4_Missense_Mutation_p.A215V|BIN1_ENST00000346226.3_Missense_Mutation_p.A215V|BIN1_ENST00000348750.4_Missense_Mutation_p.A215V	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	246	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTCCAGGCCCGCGATGCTCTG	0.602																																						uc002tns.1		NA																	0				ovary(2)|central_nervous_system(2)|skin(2)|lung(1)	7						c.(736-738)GCG>GTG		bridging integrator 1 isoform 1		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	90.0	69.0	76.0		644,737,737,737,644,644,644,644,644,644	4.6	0.2	2		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	BIN1	NM_004305.3,NM_139343.2,NM_139344.2,NM_139345.2,NM_139346.2,NM_139347.2,NM_139348.2,NM_139349.2,NM_139350.2,NM_139351.2	64,64,64,64,64,64,64,64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	215/455,246/594,246/551,246/507,215/498,215/519,215/483,215/476,215/440,215/410	127821184	1,13005	2203	4300	6503	SO:0001583	missense	274				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus		g.chr2:127821184G>A	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.737C>T	2.37:g.127821184G>A	ENSP00000316779:p.Ala246Val					BIN1_uc010yzf.1_Missense_Mutation_p.A191V|BIN1_uc010yzg.1_Missense_Mutation_p.A246V|BIN1_uc002tnu.1_Missense_Mutation_p.A215V|BIN1_uc002toa.1_Missense_Mutation_p.A215V|BIN1_uc002tnt.1_Missense_Mutation_p.A215V|BIN1_uc002tnv.1_Missense_Mutation_p.A246V|BIN1_uc002tnw.1_Missense_Mutation_p.A215V|BIN1_uc002tnx.1_Missense_Mutation_p.A215V|BIN1_uc002tny.1_Missense_Mutation_p.A246V|BIN1_uc002tnz.1_Missense_Mutation_p.A215V|BIN1_uc002tob.1_Missense_Mutation_p.A215V|BIN1_uc002toc.1_Missense_Mutation_p.A215V	p.A246V	NM_139343	NP_647593	O00499	BIN1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	9	1082	-	Colorectal(110;0.0831)		246			BAR.|Potential.		O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	37	c.737C>T	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630571	0.87660	0.0	1.16E-4	ENSG00000136717	ENST00000376113;ENST00000357970;ENST00000393040;ENST00000348750;ENST00000259238;ENST00000346226;ENST00000393041;ENST00000351659;ENST00000352848;ENST00000316724;ENST00000409400	T;T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	4.64	4.64	0.57946	BAR (3);	0.127565	0.56097	D	0.000023	T	0.67534	0.2903	L	0.38175	1.15	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;P	0.89917	0.973;0.996;1.0;1.0;1.0;1.0;0.997;1.0;1.0;1.0;1.0;1.0;0.753	P;P;D;P;D;D;D;P;D;D;D;D;B	0.83275	0.854;0.688;0.996;0.876;0.996;0.941;0.942;0.876;0.996;0.995;0.923;0.913;0.423	T	0.68469	-0.5400	10	0.48119	T	0.1	-25.5924	16.4384	0.83889	0.0:0.0:1.0:0.0	.	246;191;215;215;215;215;246;215;215;246;215;215;246	B7Z2Z2;B7Z6Y2;O00499-4;O00499-7;O00499-6;O00499-2;O00499-3;O00499-8;O00499-11;O00499-5;O00499-10;O00499-9;O00499	.;.;.;.;.;.;.;.;.;.;.;.;BIN1_HUMAN	V	215;246;215;215;215;215;215;246;215;246;215	ENSP00000365281:A215V;ENSP00000350654:A246V;ENSP00000376760:A215V;ENSP00000259237:A215V;ENSP00000259238:A215V;ENSP00000315411:A215V;ENSP00000376761:A215V;ENSP00000315388:A246V;ENSP00000315284:A215V;ENSP00000316779:A246V;ENSP00000386797:A215V	ENSP00000259238:A215V	A	-	2	0	BIN1	127537654	1.000000	0.71417	0.227000	0.23927	0.504000	0.33889	9.327000	0.96396	2.409000	0.81822	0.561000	0.74099	GCG		0.602	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		9	28	0	0	0	0	9	28				
AMMECR1L	83607	broad.mit.edu	37	2	128631411	128631411	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:128631411T>C	ENST00000272647.5	-	3	658	c.398A>G	c.(397-399)aAt>aGt	p.N133S	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.N133S	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	133	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CTAGGGGTCATTGGTGAATCT	0.507																																						uc002tpl.2		NA																	0				central_nervous_system(1)	1						c.(397-399)AAT>AGT		AMME chromosomal region gene 1-like							176.0	180.0	178.0					2																	128631411		2203	4300	6503	SO:0001583	missense	83607							g.chr2:128631411T>C		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.398A>G	2.37:g.128631411T>C	ENSP00000272647:p.Asn133Ser					AMMECR1L_uc002tpm.2_Missense_Mutation_p.N133S	p.N133S	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	3	649	-	Colorectal(110;0.1)		133			AMMECR1.		B4E276	Missense_Mutation	SNP	ENST00000272647.5	37	c.398A>G	CCDS2152.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.363327	0.82353	.	.	ENSG00000144233	ENST00000272647;ENST00000393001	.	.	.	5.39	5.39	0.77823	AMMECR1 domain (2);	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	M	0.67569	2.06	0.80722	D	1	P	0.42123	0.771	P	0.45276	0.475	T	0.70547	-0.4842	9	0.54805	T	0.06	-7.4816	15.4107	0.74917	0.0:0.0:0.0:1.0	.	133	Q6DCA0	AMERL_HUMAN	S	133	.	ENSP00000272647:N133S	N	-	2	0	AMMECR1L	128347881	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.649000	0.83500	2.047000	0.60756	0.533000	0.62120	AAT		0.507	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		21	264	0	0	0	0	21	264				
LRP1B	53353	broad.mit.edu	37	2	141533692	141533692	+	Silent	SNP	T	T	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:141533692T>C	ENST00000389484.3	-	33	6446	c.5475A>G	c.(5473-5475)aaA>aaG	p.K1825K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1825					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)		TATCATAGACTTTCATATGAA	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(5473-5475)AAA>AAG		low density lipoprotein-related protein 1B							134.0	128.0	130.0					2																	141533692		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141533692T>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.5475A>G	2.37:g.141533692T>C		TSP Lung(27;0.18)					p.K1825K	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)	33	6447	-		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)	1825			Extracellular (Potential).|LDL-receptor class B 18.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.5475A>G	CCDS2182.1																																																																																				0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		42	108	0	0	0	0	42	108				
SP5	389058	broad.mit.edu	37	2	171573747	171573747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:171573747C>T	ENST00000375281.3	+	2	1192	c.1030C>T	c.(1030-1032)Cag>Tag	p.Q344*	AC007405.2_ENST00000409786.1_5'Flank	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	344					bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						GGACGAGCTGCAGCGGCACCT	0.667																																						uc002uge.2		NA																	0					0						c.(1030-1032)CAG>TAG		Sp5 transcription factor							24.0	23.0	23.0					2																	171573747		2202	4297	6499	SO:0001587	stop_gained	389058				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:171573747C>T		CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053	ENST00000375281.3:c.1030C>T	2.37:g.171573747C>T	ENSP00000364430:p.Gln344*						p.Q344*	NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN			2	1196	+			344			C2H2-type 2.			Nonsense_Mutation	SNP	ENST00000375281.3	37	c.1030C>T	CCDS33322.1	.	.	.	.	.	.	.	.	.	.	C	39	7.332759	0.98217	.	.	ENSG00000204335	ENST00000375281	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5244	0.95197	0.0:1.0:0.0:0.0	.	.	.	.	X	344	.	ENSP00000364430:Q344X	Q	+	1	0	SP5	171281993	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.729000	0.84864	2.687000	0.91594	0.655000	0.94253	CAG		0.667	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333670.1	XM_371581		6	22	0	0	0	0	6	22				
TTN	7273	broad.mit.edu	37	2	179411014	179411014	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:179411014C>G	ENST00000591111.1	-	292	90345	c.90121G>C	c.(90121-90123)Gac>Cac	p.D30041H	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D29114H|TTN_ENST00000342175.6_Missense_Mutation_p.D22809H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D22617H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22742H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D31682H|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30041	Ig-like 136.				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)			TTTCCACTGTCACTTCTGTCA	0.448																																						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.(87340-87342)GAC>CAC		titin isoform N2-A							208.0	201.0	203.0					2																	179411014		1955	4140	6095	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411014C>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.90121G>C	2.37:g.179411014C>G	ENSP00000465570:p.Asp30041His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D22809H|TTN_uc010zfi.1_Missense_Mutation_p.D22742H|TTN_uc010zfj.1_Missense_Mutation_p.D22617H	p.D29114H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		291	87564	-			30041					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.87340G>C		.	.	.	.	.	.	.	.	.	.	C	17.39	3.376968	0.61735	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.66	5.66	0.87406	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91260	0.7245	M	0.86268	2.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92011	0.5618	9	0.87932	D	0	.	19.7578	0.96301	0.0:1.0:0.0:0.0	.	22617;22742;22809;30041	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	29114;22617;22809;22742;22614	ENSP00000343764:D29114H;ENSP00000434586:D22617H;ENSP00000340554:D22809H;ENSP00000352154:D22742H	ENSP00000340554:D22809H	D	-	1	0	TTN	179119260	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	7.818000	0.86416	2.657000	0.90304	0.655000	0.94253	GAC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		62	234	0	0	0	0	62	234				
TTN	7273	broad.mit.edu	37	2	179442069	179442069	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:179442069G>A	ENST00000591111.1	-	274	64294	c.64070C>T	c.(64069-64071)tCa>tTa	p.S21357L	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S20430L|TTN_ENST00000342175.6_Missense_Mutation_p.S14125L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S13933L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S14058L|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S22998L|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21357	Ig-like 113.				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)			TGTTGGGGTTGAAGTTATCTG	0.423																																						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.(61288-61290)TCA>TTA		titin isoform N2-A							134.0	120.0	124.0					2																	179442069		1899	4129	6028	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179442069G>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.64070C>T	2.37:g.179442069G>A	ENSP00000465570:p.Ser21357Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S14125L|TTN_uc010zfi.1_Missense_Mutation_p.S14058L|TTN_uc010zfj.1_Missense_Mutation_p.S13933L|uc002umv.1_5'Flank	p.S20430L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		273	61513	-			21357					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.61289C>T		.	.	.	.	.	.	.	.	.	.	G	3.199	-0.164131	0.06502	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.53	4.65	0.58169	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63224	0.2493	L	0.43701	1.375	0.09310	N	1	B;B;B;B	0.32653	0.379;0.379;0.379;0.379	B;B;B;B	0.34536	0.185;0.185;0.185;0.129	T	0.60214	-0.7307	9	0.87932	D	0	.	16.0116	0.80406	0.0:0.0:0.8642:0.1358	.	13933;14058;14125;21357	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	20430;13933;14125;14058;13931	ENSP00000343764:S20430L;ENSP00000434586:S13933L;ENSP00000340554:S14125L;ENSP00000352154:S14058L	ENSP00000340554:S14125L	S	-	2	0	TTN	179150315	1.000000	0.71417	0.536000	0.28039	0.091000	0.18340	3.345000	0.52182	1.457000	0.47850	-0.181000	0.13052	TCA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	76	0	0	0	0	5	76				
ERBB4	2066	broad.mit.edu	37	2	212589879	212589879	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:212589879G>A	ENST00000342788.4	-	6	973	c.663C>T	c.(661-663)tgC>tgT	p.C221C	ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Silent_p.C221C|ERBB4_ENST00000402597.1_Silent_p.C221C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	221	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	AAGGTCCGTAGCATCTGCCGT	0.498										TSP Lung(8;0.080)																												uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(661-663)TGC>TGT		v-erb-a erythroblastic leukemia viral oncogene							152.0	133.0	139.0					2																	212589879		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212589879G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.663C>T	2.37:g.212589879G>A		TSP Lung(8;0.080)				ERBB4_uc002veh.1_Silent_p.C221C|ERBB4_uc010zji.1_Silent_p.C221C|ERBB4_uc010zjj.1_Silent_p.C221C|ERBB4_uc010fut.1_Silent_p.C221C	p.C221C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	6	761	-		Renal(323;0.06)|Lung NSC(271;0.197)	221			Cys-rich.|Extracellular (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.663C>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	9.885	1.202743	0.22121	.	.	ENSG00000178568	ENST00000260943	.	.	.	5.73	4.85	0.62838	.	.	.	.	.	T	0.70386	0.3218	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69767	-0.5056	4	.	.	.	.	14.6075	0.68489	0.0703:0.0:0.9297:0.0	.	.	.	.	V	221	.	.	A	-	2	0	ERBB4	212298124	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.693000	0.54735	1.418000	0.47098	0.650000	0.86243	GCT		0.498	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		30	114	0	0	0	0	30	114				
FAM124B	79843	broad.mit.edu	37	2	225266461	225266461	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:225266461C>T	ENST00000409685.3	-	1	290	c.25G>A	c.(25-27)Gcc>Acc	p.A9T	FAM124B_ENST00000389874.3_Missense_Mutation_p.A9T|FAM124B_ENST00000243806.2_Missense_Mutation_p.A9T	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	9										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		ACAGTCATGGCCAGAGGCCCC	0.542																																						uc002vnx.2		NA																	0				ovary(2)	2						c.(25-27)GCC>ACC		hypothetical protein LOC79843 isoform a							33.0	37.0	36.0					2																	225266461		2197	4300	6497	SO:0001583	missense	79843						protein binding	g.chr2:225266461C>T	AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.25G>A	2.37:g.225266461C>T	ENSP00000386895:p.Ala9Thr					FAM124B_uc002vnw.2_Missense_Mutation_p.A9T	p.A9T	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)	1	251	-		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)	9					A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	37	c.25G>A	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243980	0.58995	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.43294	0.95;1.5;0.95	5.8	2.93	0.34026	.	0.517604	0.20698	N	0.087332	T	0.38081	0.1027	L	0.57536	1.79	0.09310	N	1	P;P	0.47910	0.902;0.763	B;B	0.42282	0.382;0.229	T	0.17531	-1.0366	10	0.33141	T	0.24	-12.591	10.2245	0.43216	0.0:0.5536:0.375:0.0714	.	9;9	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	T	9	ENSP00000374524:A9T;ENSP00000386895:A9T;ENSP00000243806:A9T	ENSP00000243806:A9T	A	-	1	0	FAM124B	224974705	0.994000	0.37717	0.128000	0.21923	0.984000	0.73092	2.818000	0.48041	0.753000	0.32945	0.462000	0.41574	GCC		0.542	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785		17	63	0	0	0	0	17	63				
COL4A3	1285	broad.mit.edu	37	2	228153932	228153933	+	Missense_Mutation	DNP	TC	TC	AG			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:228153932_228153933TC>AG	ENST00000396578.3	+	35	3110_3111	c.2948_2949TC>AG	c.(2947-2949)cTC>cAG	p.L983Q	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	983	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTAAAGGGCCTCAAAGGACTAC	0.416																																						uc002vom.1		NA																	0				skin(2)|ovary(1)	3						c.(2947-2949)CTC>CAG		alpha 3 type IV collagen isoform 1 precursor																																				SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228153932_228153933TC>AG		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	Exception_encountered	2.37:g.228153932_228153933delinsAG	ENSP00000379823:p.Leu983Gln					COL4A3_uc002von.1_Missense_Mutation_p.L983Q|COL4A3_uc002voo.1_Missense_Mutation_p.L983Q|COL4A3_uc002vop.1_Missense_Mutation_p.L983Q|uc002voq.1_Intron|uc002vor.1_Intron	p.L983Q	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	35	3110_3111	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	983			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	DNP	ENST00000396578.3	37	c.2948_2949TC>AG	CCDS42829.1																																																																																				0.416	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		3	36	0	0	0	0	3	36				
SEPT2	4735	broad.mit.edu	37	2	242277151	242277151	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:242277151C>T	ENST00000391973.2	+	7	1068	c.540C>T	c.(538-540)gtC>gtT	p.V180V	SEPT2_ENST00000391971.2_Silent_p.V180V|SEPT2_ENST00000360051.3_Silent_p.V180V|SEPT2_ENST00000401990.1_Silent_p.V190V|SEPT2_ENST00000402092.2_Silent_p.V180V|SEPT2_ENST00000407971.1_Silent_p.V140V	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	180	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TTGTGCCTGTCATTGCAAAAG	0.463																																						uc002wbc.2		NA																	0				central_nervous_system(1)	1						c.(538-540)GTC>GTT		septin 2							89.0	84.0	86.0					2																	242277151		2203	4300	6503	SO:0001819	synonymous_variant	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242277151C>T	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.540C>T	2.37:g.242277151C>T						SEPT2_uc002wbd.2_Silent_p.V180V|SEPT2_uc002wbf.2_Silent_p.V180V|SEPT2_uc002wbg.2_Silent_p.V180V|SEPT2_uc002wbh.2_Silent_p.V190V|SEPT2_uc010zop.1_Silent_p.V215V	p.V180V	NM_001008491	NP_001008491	Q15019	SEPT2_HUMAN		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	8	961	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	180					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Silent	SNP	ENST00000391973.2	37	c.540C>T	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524184	0.27299	.	.	ENSG00000168385	ENST00000457874	.	.	.	5.23	3.33	0.38152	.	.	.	.	.	T	0.48502	0.1503	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43048	-0.9415	4	.	.	.	.	4.8344	0.13456	0.1889:0.5111:0.2244:0.0756	.	.	.	.	L	152	.	.	S	+	2	0	SEPT2	241925824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.426000	0.34870	2.447000	0.82792	0.655000	0.94253	TCA		0.463	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		25	120	0	0	0	0	25	120				
RBCK1	10616	broad.mit.edu	37	20	398254	398254	+	Silent	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr20:398254C>G	ENST00000356286.5	+	3	957	c.252C>G	c.(250-252)ctC>ctG	p.L84L	RBCK1_ENST00000382181.2_5'UTR|RBCK1_ENST00000353660.3_Silent_p.L42L	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	84	Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TGGCGTCTCTCAAGGACATGG	0.602																																						uc002wdp.3		NA																	0					0						c.(250-252)CTC>CTG		RanBP-type and C3HC4-type zinc finger containing							79.0	54.0	62.0					20																	398254		2203	4300	6503	SO:0001819	synonymous_variant	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:398254C>G	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.252C>G	20.37:g.398254C>G						RBCK1_uc010zpl.1_Silent_p.L84L|RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Silent_p.L42L|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_5'UTR	p.L84L	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN			3	945	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	84			Interaction with IRF3.|Ubiquitin-like.|Interaction with RNF31.|Interaction with TAB2.		O95623|Q86SL2|Q96BS3|Q9BYM9	Silent	SNP	ENST00000356286.5	37	c.252C>G	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	C	6.191	0.403449	0.11754	.	.	ENSG00000125826	ENST00000414880	.	.	.	4.99	1.76	0.24704	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.4583	6.2372	0.20770	0.0:0.4953:0.3981:0.1066	.	.	.	.	X	117	.	.	S	+	2	0	RBCK1	346254	0.999000	0.42202	1.000000	0.80357	0.634000	0.38068	0.624000	0.24462	0.657000	0.30906	0.455000	0.32223	TCA		0.602	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		4	73	0	0	0	0	4	73				
LTN1	26046	broad.mit.edu	37	21	30339459	30339459	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr21:30339459G>T	ENST00000361371.5	-	10	1433	c.1354C>A	c.(1354-1356)Caa>Aaa	p.Q452K	LTN1_ENST00000389195.2_Missense_Mutation_p.Q498K|LTN1_ENST00000389194.2_Missense_Mutation_p.Q498K			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	452					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TGCCCATGTTGCAATCCTGGG	0.388																																						uc002ymr.2		NA																	0					0						c.(1492-1494)CAA>AAA		zinc finger protein 294							73.0	68.0	70.0					21																	30339459		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30339459G>T	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1354C>A	21.37:g.30339459G>T	ENSP00000354977:p.Gln452Lys					RNF160_uc010gll.1_RNA	p.Q498K	NM_015565	NP_056380	O94822	LTN1_HUMAN			10	1505	-			452					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.1492C>A		.	.	.	.	.	.	.	.	.	.	G	11.32	1.604986	0.28623	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.66099	3.67;3.67;-0.19	5.02	5.02	0.67125	Armadillo-type fold (1);	0.256823	0.39475	N	0.001344	T	0.49932	0.1586	L	0.32530	0.975	0.51767	D	0.999932	B	0.32573	0.376	B	0.23852	0.049	T	0.45542	-0.9254	10	0.21540	T	0.41	.	18.886	0.92378	0.0:0.0:1.0:0.0	.	452	O94822	LTN1_HUMAN	K	498;452;454;498	ENSP00000373846:Q498K;ENSP00000354977:Q452K;ENSP00000373847:Q498K	ENSP00000354977:Q452K	Q	-	1	0	LTN1	29261330	1.000000	0.71417	0.927000	0.36925	0.966000	0.64601	8.639000	0.91023	2.757000	0.94681	0.650000	0.86243	CAA		0.388	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		23	93	1	0	2.32e-17	2.67e-17	23	93				
PAXBP1	94104	broad.mit.edu	37	21	34123488	34123488	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr21:34123488C>A	ENST00000331923.4	-	9	1738	c.1549G>T	c.(1549-1551)Gat>Tat	p.D517Y	PAXBP1_ENST00000290178.4_Missense_Mutation_p.D517Y	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	517	Necessary and sufficient for interaction with PAX7. {ECO:0000250}.				muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGTGCCCGATCGCGTCCAAAG	0.463																																						uc002yqn.2		NA																	0				ovary(2)	2						c.(1549-1551)GAT>TAT		GC-rich sequence DNA-binding factor candidate							114.0	95.0	101.0					21																	34123488		2203	4300	6503	SO:0001583	missense	94104					cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:34123488C>A	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1549G>T	21.37:g.34123488C>A	ENSP00000328992:p.Asp517Tyr					GCFC1_uc002yql.2_Missense_Mutation_p.D26Y|GCFC1_uc002yqm.2_Missense_Mutation_p.D11Y|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.D517Y	p.D517Y	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN			9	1739	-			517					D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.1549G>T	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245600	0.80024	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.38240	1.55;1.15	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.91635	0.999;0.952;0.79	T	0.60068	-0.7335	10	0.66056	D	0.02	-26.3309	18.0263	0.89270	0.0:1.0:0.0:0.0	.	517;517;26	Q9Y5B6-2;Q9Y5B6;B3KSC0	.;GCFC1_HUMAN;.	Y	517	ENSP00000328992:D517Y;ENSP00000290178:D517Y	ENSP00000290178:D517Y	D	-	1	0	GCFC1	33045359	1.000000	0.71417	0.985000	0.45067	0.943000	0.58893	6.961000	0.76042	2.587000	0.87381	0.557000	0.71058	GAT		0.463	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		35	113	1	0	3.76e-14	4.27e-14	35	113				
ZDHHC8	29801	broad.mit.edu	37	22	20127356	20127356	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:20127356C>T	ENST00000334554.7	+	4	639	c.498C>T	c.(496-498)ttC>ttT	p.F166F	ZDHHC8_ENST00000320602.7_Intron|ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000405930.3_Silent_p.F166F	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	166					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.F166L(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TCGTGGCCTTCGGCCTGGTCT	0.602																																						uc002zrq.2		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(1)|central_nervous_system(1)	2						c.(496-498)TTC>TTT		zinc finger, DHHC domain containing 8							74.0	62.0	66.0					22																	20127356		2203	4300	6503	SO:0001819	synonymous_variant	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20127356C>T	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.498C>T	22.37:g.20127356C>T						ZDHHC8_uc002zrr.1_Silent_p.F166F|ZDHHC8_uc010gsa.2_Intron	p.F166F	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN			4	604	+	Colorectal(54;0.0993)		166			Helical; (Potential).		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Silent	SNP	ENST00000334554.7	37	c.498C>T	CCDS13776.1																																																																																				0.602	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		10	67	0	0	0	0	10	67				
SMARCB1	6598	broad.mit.edu	37	22	24135759	24135759	+	Silent	SNP	G	G	T	rs367881615		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:24135759G>T	ENST00000263121.7	+	3	442	c.246G>T	c.(244-246)acG>acT	p.T82T	SMARCB1_ENST00000407422.3_Silent_p.T73T|SMARCB1_ENST00000344921.6_Silent_p.T73T|SMARCB1_ENST00000407082.3_Silent_p.T82T	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	82					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				ACGGATACACGACTCTAGCCA	0.532			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																uc002zyb.2		NA	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	D|N|F|S	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""			M		malignant rhabdoid	malignant rhabdoid 		2	Unknown(2)	p.?(2)	soft_tissue(2)	soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407						c.(244-246)ACG>ACT		SWI/SNF related, matrix associated, actin							183.0	162.0	169.0					22																	24135759		2203	4300	6503	SO:0001819	synonymous_variant	6598	Rhabdoid_Predisposition_syndrome|Schwannomatosis			cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24135759G>T	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.246G>T	22.37:g.24135759G>T						SMARCB1_uc002zyg.2_Silent_p.T82T|SMARCB1_uc011ajb.1_Silent_p.T73T|SMARCB1_uc002zya.2_Silent_p.T82T|SMARCB1_uc002zyc.2_Silent_p.T73T|SMARCB1_uc002zyd.2_Silent_p.T73T|SMARCB1_uc002zye.1_Silent_p.T45T|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_Intron	p.T82T	NM_003073	NP_003064	Q12824	SNF5_HUMAN			3	453	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	82					O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Silent	SNP	ENST00000263121.7	37	c.246G>T	CCDS13817.1																																																																																				0.532	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		53	179	1	0	1.46e-29	1.69e-29	53	179				
CRYBA4	1413	broad.mit.edu	37	22	27024279	27024279	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:27024279T>A	ENST00000354760.3	+	5	363	c.328T>A	c.(328-330)Ttc>Atc	p.F110I	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	110	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GCTGACAATCTTCGAGCAAGA	0.562																																						uc003acz.3		NA																	0					0						c.(328-330)TTC>ATC		crystallin, beta A4							133.0	116.0	122.0					22																	27024279		2203	4300	6503	SO:0001583	missense	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27024279T>A		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.328T>A	22.37:g.27024279T>A	ENSP00000346805:p.Phe110Ile						p.F110I	NM_001886	NP_001877	P53673	CRBA4_HUMAN			5	363	+			110			Beta/gamma crystallin 'Greek key' 3.		Q4VB22|Q6ICE4	Missense_Mutation	SNP	ENST00000354760.3	37	c.328T>A	CCDS13841.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.857225	0.91433	.	.	ENSG00000196431	ENST00000354760	D	0.84146	-1.81	4.3	4.3	0.51218	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.181068	0.48286	D	0.000184	D	0.92221	0.7533	H	0.95745	3.715	0.58432	D	0.999999	P	0.51449	0.945	P	0.53450	0.726	D	0.93800	0.7100	10	0.87932	D	0	.	11.46	0.50204	0.0:0.0:0.0:1.0	.	110	P53673	CRBA4_HUMAN	I	110	ENSP00000346805:F110I	ENSP00000346805:F110I	F	+	1	0	CRYBA4	25354279	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.742000	0.74843	1.820000	0.53075	0.533000	0.62120	TTC		0.562	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886		4	85	0	0	0	0	4	85				
ELFN2	114794	broad.mit.edu	37	22	37770534	37770534	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:37770534C>T	ENST00000402918.2	-	3	1826	c.1041G>A	c.(1039-1041)acG>acA	p.T347T	RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	347	Fibronectin type-III.				negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GTTTGTCCAGCGTCACGATCT	0.572																																						uc003asq.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1039-1041)ACG>ACA		leucine rich repeat containing 62							259.0	238.0	245.0					22																	37770534		2203	4300	6503	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37770534C>T	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1041G>A	22.37:g.37770534C>T							p.T347T	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			3	1827	-	Melanoma(58;0.0574)		347			Fibronectin type-III.|Extracellular (Potential).		Q96PY3	Silent	SNP	ENST00000402918.2	37	c.1041G>A	CCDS33642.1																																																																																				0.572	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		53	141	0	0	0	0	53	141				
L3MBTL2	83746	broad.mit.edu	37	22	41623203	41623203	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:41623203C>T	ENST00000216237.5	+	14	1856	c.1698C>T	c.(1696-1698)ctC>ctT	p.L566L		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	566					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCGGCTCCTCAGCATCCACT	0.627																																						uc003azo.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1696-1698)CTC>CTT		l(3)mbt-like 2							59.0	37.0	45.0					22																	41623203		2203	4300	6503	SO:0001819	synonymous_variant	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41623203C>T	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1698C>T	22.37:g.41623203C>T						L3MBTL2_uc010gyi.1_Silent_p.L475L|L3MBTL2_uc003azn.2_RNA	p.L566L	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN			14	1752	+			566			MBT 4.		Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Silent	SNP	ENST00000216237.5	37	c.1698C>T	CCDS14011.1																																																																																				0.627	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		3	28	0	0	0	0	3	28				
XIRP1	165904	broad.mit.edu	37	3	39227663	39227663	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:39227663C>A	ENST00000340369.3	-	2	3502	c.3274G>T	c.(3274-3276)Ggt>Tgt	p.G1092C	XIRP1_ENST00000396251.1_Missense_Mutation_p.G1092C|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1092					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTCCGAAGACCGTCCTGGATG	0.602																																						uc003cjk.1		NA																	0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(3274-3276)GGT>TGT		xin actin-binding repeat containing 1							59.0	57.0	58.0					3																	39227663		2203	4299	6502	SO:0001583	missense	165904						actin binding	g.chr3:39227663C>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3274G>T	3.37:g.39227663C>A	ENSP00000343140:p.Gly1092Cys					XIRP1_uc003cji.2_Missense_Mutation_p.G1092C|XIRP1_uc003cjj.2_Intron	p.G1092C	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3495	-			1092					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.3274G>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	8.480	0.859526	0.17178	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.06294	3.32;3.65	4.72	0.745	0.18359	.	7.244150	0.01698	U	0.027049	T	0.11750	0.0286	L	0.47716	1.5	0.09310	N	1	D;D	0.63880	0.993;0.963	P;P	0.52217	0.593;0.693	T	0.10683	-1.0619	10	0.54805	T	0.06	.	3.123	0.06397	0.1423:0.557:0.1381:0.1626	.	1092;1092	Q702N8;Q702N8-2	XIRP1_HUMAN;.	C	1092	ENSP00000379550:G1092C;ENSP00000343140:G1092C	ENSP00000343140:G1092C	G	-	1	0	XIRP1	39202667	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	0.016000	0.13377	0.030000	0.15379	0.650000	0.86243	GGT		0.602	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		15	86	1	0	1.03e-11	1.16e-11	15	86				
OR5AC2	81050	broad.mit.edu	37	3	97806283	97806283	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:97806283C>T	ENST00000358642.2	+	1	267	c.267C>T	c.(265-267)gaC>gaT	p.D89D		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	89					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(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATTTCTTAGACAAGACTGCAA	0.428																																						uc011bgs.1		NA																	0				skin(1)	1						c.(265-267)GAC>GAT		olfactory receptor, family 5, subfamily AC,							217.0	207.0	211.0					3																	97806283		2203	4300	6503	SO:0001819	synonymous_variant	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806283C>T	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.267C>T	3.37:g.97806283C>T							p.D89D	NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN			1	267	+			89			Extracellular (Potential).			Silent	SNP	ENST00000358642.2	37	c.267C>T	CCDS33796.1																																																																																				0.428	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			58	354	0	0	0	0	58	354				
ITGB5	3693	broad.mit.edu	37	3	124515329	124515329	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:124515329G>A	ENST00000296181.4	-	10	1895	c.1599C>T	c.(1597-1599)tgC>tgT	p.C533C		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	533	Cysteine-rich tandem repeats.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CGAAGCAGGAGCACTGGTTGC	0.597																																						uc003eho.2		NA																	0				skin(2)	2						c.(1597-1599)TGC>TGT		integrin, beta 5 precursor							100.0	89.0	93.0					3																	124515329		2203	4300	6503	SO:0001819	synonymous_variant	3693				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	g.chr3:124515329G>A	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1599C>T	3.37:g.124515329G>A						ITGB5_uc010hrx.2_RNA	p.C533C	NM_002213	NP_002204	P18084	ITB5_HUMAN		GBM - Glioblastoma multiforme(114;0.163)	10	1896	-			533			Extracellular (Potential).|II.|Cysteine-rich tandem repeats.		B0LPF8|B2RD70	Silent	SNP	ENST00000296181.4	37	c.1599C>T	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	G	8.099	0.776325	0.16051	.	.	ENSG00000082781	ENST00000481591	.	.	.	5.26	-0.475	0.12104	.	.	.	.	.	T	0.57725	0.2073	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52049	-0.8627	4	.	.	.	.	10.7803	0.46374	0.4961:0.0:0.5039:0.0	.	.	.	.	V	223	.	.	A	-	2	0	ITGB5	125998019	1.000000	0.71417	0.983000	0.44433	0.735000	0.41995	1.209000	0.32357	-0.248000	0.09583	-0.440000	0.05779	GCT		0.597	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		36	133	0	0	0	0	36	133				
HMCES	56941	broad.mit.edu	37	3	129020915	129020915	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:129020915C>G	ENST00000383463.4	+	6	847	c.758C>G	c.(757-759)tCt>tGt	p.S253C	HMCES_ENST00000502878.2_Missense_Mutation_p.S253C|HMCES_ENST00000417226.2_Missense_Mutation_p.S211C|HMCES_ENST00000389735.3_Missense_Mutation_p.S253C	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	253							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										CATGCAGTCTCTTCTGTGGTG	0.483																																						uc003elt.2		NA																	0				ovary(1)	1						c.(757-759)TCT>TGT		hypothetical protein LOC56941							131.0	132.0	132.0					3																	129020915		2203	4300	6503	SO:0001583	missense	56941							g.chr3:129020915C>G	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.758C>G	3.37:g.129020915C>G	ENSP00000372955:p.Ser253Cys					C3orf37_uc003elu.2_Missense_Mutation_p.S211C|C3orf37_uc003elv.2_Missense_Mutation_p.S253C|C3orf37_uc003elw.2_Missense_Mutation_p.S253C	p.S253C	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN			6	846	+			253					A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	ENST00000383463.4	37	c.758C>G	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761269	0.89932	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000417226;ENST00000510314;ENST00000502878;ENST00000389735	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.90154	0.6923	H	0.98238	4.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93575	0.6907	9	0.87932	D	0	-21.6367	16.5838	0.84722	0.0:1.0:0.0:0.0	.	211;253	E7EMP6;Q96FZ2	.;CC037_HUMAN	C	205;253;211;163;253;253	.	ENSP00000372955:S253C	S	+	2	0	C3orf37	130503605	1.000000	0.71417	0.941000	0.38009	0.994000	0.84299	7.132000	0.77251	2.587000	0.87381	0.591000	0.81541	TCT		0.483	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187		15	205	0	0	0	0	15	205				
TRIM42	287015	broad.mit.edu	37	3	140406816	140406816	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:140406816A>T	ENST00000286349.3	+	3	1483	c.1292A>T	c.(1291-1293)aAg>aTg	p.K431M		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	431						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCTACTCCAAGGAAGCCCTG	0.502																																						uc003eto.1		NA																	0				lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(1291-1293)AAG>ATG		tripartite motif-containing 42							75.0	67.0	70.0					3																	140406816		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140406816A>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1292A>T	3.37:g.140406816A>T	ENSP00000286349:p.Lys431Met						p.K431M	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			3	1483	+			431					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1292A>T	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.675683	0.67928	.	.	ENSG00000155890	ENST00000286349	T	0.40756	1.02	5.33	5.33	0.75918	.	0.082441	0.51477	D	0.000085	T	0.47266	0.1436	N	0.19112	0.55	0.36502	D	0.869046	D	0.89917	1.0	D	0.68765	0.96	T	0.59289	-0.7482	10	0.87932	D	0	-26.3689	11.987	0.53153	1.0:0.0:0.0:0.0	.	431	Q8IWZ5	TRI42_HUMAN	M	431	ENSP00000286349:K431M	ENSP00000286349:K431M	K	+	2	0	TRIM42	141889506	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.763000	0.68818	2.162000	0.67917	0.454000	0.30748	AAG		0.502	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		7	75	0	0	0	0	7	75				
ZIC4	84107	broad.mit.edu	37	3	147108849	147108849	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:147108849C>T	ENST00000383075.3	-	4	1385	c.873G>A	c.(871-873)tcG>tcA	p.S291S	ZIC4_ENST00000425731.3_Silent_p.S329S|ZIC4_ENST00000491672.1_Silent_p.S85S|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Silent_p.S291S|ZIC4_ENST00000525172.2_Silent_p.S341S|ZIC4_ENST00000484399.1_Silent_p.S291S	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	291						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGGGCGGCGGCGAGCGCCCGT	0.672																																						uc003ewd.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(871-873)TCG>TCA		zinc finger protein of the cerebellum 4							31.0	40.0	37.0					3																	147108849		2181	4283	6464	SO:0001819	synonymous_variant	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108849C>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.873G>A	3.37:g.147108849C>T						ZIC4_uc003ewc.1_Silent_p.S221S|ZIC4_uc011bno.1_Silent_p.S341S	p.S291S	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			4	1146	-			291					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Silent	SNP	ENST00000383075.3	37	c.873G>A	CCDS43160.1																																																																																				0.672	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			14	55	0	0	0	0	14	55				
MED12L	116931	broad.mit.edu	37	3	151105633	151105633	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:151105633G>A	ENST00000474524.1	+	35	5057	c.5019G>A	c.(5017-5019)ccG>ccA	p.P1673P	MED12L_ENST00000273432.4_Silent_p.P1533P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1673						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.P1673L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGTGTCCCCGTGGGACTTGT	0.532																																						uc003eyp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(5017-5019)CCG>CCA		mediator of RNA polymerase II transcription,							96.0	96.0	96.0					3																	151105633		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151105633G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5019G>A	3.37:g.151105633G>A						MED12L_uc011bnz.1_Silent_p.P1533P|MED12L_uc003eyy.1_Silent_p.P836P	p.P1673P	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		35	5057	+			1673					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.5019G>A	CCDS33876.1																																																																																				0.532	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		15	119	0	0	0	0	15	119				
PSMD2	5708	broad.mit.edu	37	3	184018206	184018206	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:184018206G>C	ENST00000310118.4	+	3	889	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	PSMD2_ENST00000459910.1_3'UTR|PSMD2_ENST00000435761.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_5'Flank	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	111					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GGAAATCTATGAGAACATGGC	0.458																																					Colon(24;313 636 6917 9932 15554)	uc003fnn.1		NA																	0					0						c.(331-333)GAG>CAG		proteasome 26S non-ATPase subunit 2	Bortezomib(DB00188)						82.0	80.0	81.0					3																	184018206		2203	4300	6503	SO:0001583	missense	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184018206G>C	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.331G>C	3.37:g.184018206G>C	ENSP00000310129:p.Glu111Gln					PSMD2_uc011brj.1_5'Flank|PSMD2_uc011brk.1_5'Flank	p.E111Q	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	364	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		111					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	c.331G>C	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366806	0.82463	.	.	ENSG00000175166	ENST00000310118;ENST00000417952;ENST00000538096	T;T	0.21734	1.99;1.99	5.71	5.71	0.89125	Armadillo-type fold (1);	0.111045	0.64402	D	0.000011	T	0.25644	0.0624	L	0.53729	1.69	0.80722	D	1	P	0.35155	0.487	B	0.32465	0.146	T	0.02220	-1.1193	10	0.54805	T	0.06	-24.5242	19.8633	0.96793	0.0:0.0:1.0:0.0	.	111	Q13200	PSMD2_HUMAN	Q	111;111;103	ENSP00000310129:E111Q;ENSP00000414061:E111Q	ENSP00000310129:E111Q	E	+	1	0	PSMD2	185500900	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.844000	0.86867	2.697000	0.92050	0.591000	0.81541	GAG		0.458	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		12	117	0	0	0	0	12	117				
IL1RAP	3556	broad.mit.edu	37	3	190362143	190362143	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:190362143C>T	ENST00000412504.2	+	9	1410	c.1158C>T	c.(1156-1158)gtC>gtT	p.V386V	IL1RAP_ENST00000443369.2_Silent_p.V386V|IL1RAP_ENST00000439062.1_Silent_p.V386V|IL1RAP_ENST00000072516.3_Silent_p.V386V|IL1RAP_ENST00000317757.3_Silent_p.V386V|RN7SKP296_ENST00000411185.1_RNA|IL1RAP_ENST00000447382.1_Silent_p.V386V			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	386					immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TAGAGATGGTCCTATTTTACC	0.398																																						uc003fsm.1		NA																	0				ovary(1)	1						c.(1156-1158)GTC>GTT		interleukin 1 receptor accessory protein isoform							151.0	127.0	135.0					3																	190362143		2202	4300	6502	SO:0001819	synonymous_variant	3556				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190362143C>T	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1158C>T	3.37:g.190362143C>T						IL1RAP_uc010hzg.1_Silent_p.V386V|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Silent_p.V386V|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Silent_p.V386V	p.V386V	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	10	1364	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		386			Helical; (Potential).		B1NLD0|D3DNW0|O14915|Q86WJ7	Silent	SNP	ENST00000412504.2	37	c.1158C>T	CCDS3298.1																																																																																				0.398	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			17	87	0	0	0	0	17	87				
RNF168	165918	broad.mit.edu	37	3	196198801	196198801	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:196198801C>T	ENST00000318037.3	-	6	2199	c.1605G>A	c.(1603-1605)aaG>aaA	p.K535K	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	535					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		AATTTGGCATCTTTCTTCTAT	0.398																																						uc003fwq.2		NA																	0					0						c.(1603-1605)AAG>AAA		ring finger protein 168							248.0	237.0	241.0					3																	196198801		2203	4300	6503	SO:0001819	synonymous_variant	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196198801C>T	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.1605G>A	3.37:g.196198801C>T						RNF168_uc010iah.2_Silent_p.K368K|uc010iag.1_5'Flank	p.K535K	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	6	2143	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		535					Q8NA67|Q96NS4	Silent	SNP	ENST00000318037.3	37	c.1605G>A	CCDS3317.1																																																																																				0.398	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		11	450	0	0	0	0	11	450				
RBPJ	3516	broad.mit.edu	37	4	26422343	26422343	+	Silent	SNP	T	T	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:26422343T>C	ENST00000361572.6	+	5	725	c.531T>C	c.(529-531)gcT>gcC	p.A177A	RBPJ_ENST00000355476.3_Silent_p.A163A|RBPJ_ENST00000345843.3_Silent_p.A162A|RBPJ_ENST00000342320.4_Silent_p.A163A|RBPJ_ENST00000342295.1_Silent_p.A177A|RBPJ_ENST00000504907.1_Silent_p.A163A|RBPJ_ENST00000348160.4_Silent_p.A164A|RBPJ_ENST00000507561.1_Silent_p.A142A			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	177					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TGAAAAATGCTGACTGTATGT	0.353																																						uc003grx.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(529-531)GCT>GCC		recombining binding protein suppressor of							54.0	50.0	52.0					4																	26422343		2203	4300	6503	SO:0001819	synonymous_variant	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26422343T>C	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.531T>C	4.37:g.26422343T>C						RBPJ_uc003gry.1_Silent_p.A162A|RBPJ_uc003grz.1_Silent_p.A177A|RBPJ_uc011bxt.1_Silent_p.A177A|RBPJ_uc003gsa.1_Silent_p.A163A|RBPJ_uc003gsb.1_Silent_p.A164A|RBPJ_uc003gsc.1_Silent_p.A163A	p.A177A	NM_005349	NP_005340	Q06330	SUH_HUMAN			6	767	+		Breast(46;0.0503)	177					B4DY22|Q5XKH9|Q6P1N3	Silent	SNP	ENST00000361572.6	37	c.531T>C	CCDS3437.1																																																																																				0.353	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		43	31	0	0	0	0	43	31				
N4BP2	55728	broad.mit.edu	37	4	40123657	40123657	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:40123657T>C	ENST00000261435.6	+	9	4342	c.3926T>C	c.(3925-3927)cTt>cCt	p.L1309P		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1309					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ACTGATTCTCTTGAAATAAAG	0.259																																						uc003guy.3		NA																	0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(3925-3927)CTT>CCT		Nedd4 binding protein 2							36.0	39.0	38.0					4																	40123657		2181	4286	6467	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40123657T>C	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3926T>C	4.37:g.40123657T>C	ENSP00000261435:p.Leu1309Pro					N4BP2_uc010ifq.2_Missense_Mutation_p.L1229P|N4BP2_uc010ifr.2_Missense_Mutation_p.L1229P	p.L1309P	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			9	4264	+			1309					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.3926T>C	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	T	4.092	0.014985	0.07959	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.20881	2.04	5.79	-1.46	0.08800	.	0.848784	0.10200	N	0.703526	T	0.12475	0.0303	L	0.34521	1.04	0.19300	N	0.999974	P;P	0.44946	0.846;0.761	B;B	0.41813	0.367;0.202	T	0.11842	-1.0571	10	0.41790	T	0.15	0.7877	0.2307	0.00179	0.2386:0.2378:0.2455:0.2782	.	1309;1309	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	P	1309;1229	ENSP00000261435:L1309P	ENSP00000261435:L1309P	L	+	2	0	N4BP2	39800052	0.251000	0.23961	0.003000	0.11579	0.260000	0.26232	0.284000	0.18864	-0.433000	0.07286	0.377000	0.23210	CTT		0.259	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		3	34	0	0	0	0	3	34				
KIAA1211	57482	broad.mit.edu	37	4	57182127	57182127	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:57182127C>T	ENST00000504228.1	+	6	2564	c.2459C>T	c.(2458-2460)tCg>tTg	p.S820L	KIAA1211_ENST00000541073.1_Missense_Mutation_p.S813L|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S820L			Q6ZU35	K1211_HUMAN	KIAA1211	820										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ACGACCTCGTCGGACAGCGAG	0.532																																						uc003hbk.2		NA																	0				ovary(1)|skin(1)	2						c.(2458-2460)TCG>TTG		hypothetical protein LOC57482							87.0	92.0	91.0					4																	57182127		2065	4211	6276	SO:0001583	missense	57482							g.chr4:57182127C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2459C>T	4.37:g.57182127C>T	ENSP00000423366:p.Ser820Leu					KIAA1211_uc010iha.2_Missense_Mutation_p.S813L|KIAA1211_uc011bzz.1_Missense_Mutation_p.S730L|KIAA1211_uc003hbm.1_Missense_Mutation_p.S706L	p.S820L	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	2850	+	Glioma(25;0.08)|all_neural(26;0.101)		820					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2459C>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654563	0.29425	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.11169	2.8;2.8;2.8	4.97	-0.762	0.11034	.	.	.	.	.	T	0.04770	0.0129	N	0.11064	0.09	0.09310	N	1	B;B;B	0.23128	0.08;0.08;0.023	B;B;B	0.14578	0.011;0.011;0.01	T	0.45220	-0.9276	9	0.20519	T	0.43	1.7089	7.1501	0.25606	0.0:0.3289:0.1331:0.538	.	813;813;820	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	L	820;820;813;730	ENSP00000264229:S820L;ENSP00000423366:S820L;ENSP00000444006:S813L	ENSP00000264229:S820L	S	+	2	0	KIAA1211	56876884	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.300000	0.02751	-0.421000	0.07416	0.561000	0.74099	TCG		0.532	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		20	98	0	0	0	0	20	98				
ANKRD17	26057	broad.mit.edu	37	4	73963824	73963824	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:73963824C>G	ENST00000358602.4	-	26	5103	c.4987G>C	c.(4987-4989)Gag>Cag	p.E1663Q	ANKRD17_ENST00000330838.6_Missense_Mutation_p.E1412Q|ANKRD17_ENST00000509867.2_Missense_Mutation_p.E1550Q	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1663	Ser-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GATTTTCTCTCTTCCTTTGGA	0.363																																						uc003hgp.2		NA																	0				ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(4987-4989)GAG>CAG		ankyrin repeat domain protein 17 isoform a							144.0	136.0	139.0					4																	73963824		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73963824C>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4987G>C	4.37:g.73963824C>G	ENSP00000351416:p.Glu1663Gln					ANKRD17_uc003hgo.2_Missense_Mutation_p.E1550Q|ANKRD17_uc003hgq.2_Missense_Mutation_p.E1412Q|ANKRD17_uc003hgr.2_Missense_Mutation_p.E1662Q	p.E1663Q	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		26	5104	-	Breast(15;0.000295)		1663			Ser-rich.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.4987G>C	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361832	0.82353	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.22336	1.96;1.96;1.96	5.18	5.18	0.71444	.	0.164515	0.41001	D	0.000973	T	0.24198	0.0586	L	0.48642	1.525	0.41392	D	0.98762	B;B;B;B	0.29301	0.081;0.241;0.048;0.048	B;B;B;B	0.28139	0.086;0.086;0.039;0.039	T	0.05037	-1.0910	10	0.66056	D	0.02	.	19.0519	0.93050	0.0:1.0:0.0:0.0	.	1662;1412;1663;1550	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	Q	1663;1070;1412;1550;47	ENSP00000351416:E1663Q;ENSP00000332265:E1412Q;ENSP00000427151:E1550Q	ENSP00000332265:E1412Q	E	-	1	0	ANKRD17	74182688	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.317000	0.65822	2.587000	0.87381	0.591000	0.81541	GAG		0.363	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		16	182	0	0	0	0	16	182				
SLC9B2	133308	broad.mit.edu	37	4	103949913	103949913	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:103949913G>A	ENST00000394785.3	-	11	2014	c.1383C>T	c.(1381-1383)gcC>gcT	p.A461A	SLC9B2_ENST00000503230.1_Silent_p.A404A|SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000362026.3_Silent_p.A461A	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	461					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										CCTGAACTGTGGCCTTTGGAA	0.338																																						uc003hwx.3		NA																	0					0						c.(1381-1383)GCC>GCT		Na+/H+ exchanger domain containing 2							64.0	64.0	64.0					4																	103949913		2203	4300	6503	SO:0001819	synonymous_variant	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103949913G>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.1383C>T	4.37:g.103949913G>A						NHEDC2_uc010iln.1_Intron|NHEDC2_uc003hwy.2_Silent_p.A461A|NHEDC2_uc011cew.1_Silent_p.A404A|NHEDC2_uc011cex.1_Intron	p.A461A	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)	11	2255	-			461					B5ME52|Q6ZMD8|Q96D95	Silent	SNP	ENST00000394785.3	37	c.1383C>T	CCDS3662.1																																																																																				0.338	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		10	66	0	0	0	0	10	66				
SLC9B2	133308	broad.mit.edu	37	4	103949935	103949935	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:103949935G>C	ENST00000394785.3	-	11	1992	c.1361C>G	c.(1360-1362)tCt>tGt	p.S454C	SLC9B2_ENST00000503230.1_Missense_Mutation_p.S397C|SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000362026.3_Missense_Mutation_p.S454C	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	454					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										CCATGCAAAAGAAATAAATAT	0.363																																						uc003hwx.3		NA																	0					0						c.(1360-1362)TCT>TGT		Na+/H+ exchanger domain containing 2							64.0	65.0	65.0					4																	103949935		2203	4300	6503	SO:0001583	missense	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103949935G>C	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.1361C>G	4.37:g.103949935G>C	ENSP00000378265:p.Ser454Cys					NHEDC2_uc010iln.1_Intron|NHEDC2_uc003hwy.2_Missense_Mutation_p.S454C|NHEDC2_uc011cew.1_Missense_Mutation_p.S397C|NHEDC2_uc011cex.1_Intron	p.S454C	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)	11	2233	-			454					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.1361C>G	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827232	0.50739	.	.	ENSG00000164038	ENST00000362026;ENST00000394785;ENST00000503230	T;T;T	0.18502	2.21;2.21;2.21	5.29	4.42	0.53409	.	0.251141	0.34133	N	0.004234	T	0.22322	0.0538	L	0.47716	1.5	0.80722	D	1	B;B	0.30686	0.248;0.29	B;B	0.39068	0.289;0.139	T	0.04537	-1.0944	10	0.42905	T	0.14	-20.1988	15.9318	0.79668	0.0:0.135:0.865:0.0	.	397;454	E9PE63;Q86UD5	.;SL9B2_HUMAN	C	454;454;397	ENSP00000354574:S454C;ENSP00000378265:S454C;ENSP00000422477:S397C	ENSP00000354574:S454C	S	-	2	0	SLC9B2	104169384	1.000000	0.71417	0.996000	0.52242	0.930000	0.56654	6.838000	0.75359	2.452000	0.82932	0.563000	0.77884	TCT		0.363	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		9	75	0	0	0	0	9	75				
FAT4	79633	broad.mit.edu	37	4	126336921	126336921	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:126336921T>C	ENST00000394329.3	+	5	6816	c.6803T>C	c.(6802-6804)gTc>gCc	p.V2268A	FAT4_ENST00000335110.5_Missense_Mutation_p.V566A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2268	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTGTAAATGTCCCTGAGAAT	0.368																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(6802-6804)GTC>GCC		FAT tumor suppressor homolog 4 precursor							55.0	54.0	54.0					4																	126336921		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336921T>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6803T>C	4.37:g.126336921T>C	ENSP00000377862:p.Val2268Ala					FAT4_uc011cgp.1_Missense_Mutation_p.V566A	p.V2268A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			5	6803	+			2268			Extracellular (Potential).|Cadherin 22.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6803T>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	15.71	2.912867	0.52439	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.58210	0.35;0.35	5.14	5.14	0.70334	Cadherin (3);Cadherin-like (1);	0.000000	0.31246	U	0.007984	T	0.65873	0.2733	M	0.89030	3	0.80722	D	1	P;P	0.41420	0.566;0.749	B;P	0.44597	0.442;0.454	T	0.74383	-0.3683	10	0.87932	D	0	.	14.9979	0.71446	0.0:0.0:0.0:1.0	.	566;2268	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	A	2268;566	ENSP00000377862:V2268A;ENSP00000335169:V566A	ENSP00000335169:V566A	V	+	2	0	FAT4	126556371	1.000000	0.71417	0.612000	0.29024	0.471000	0.32888	7.538000	0.82048	1.939000	0.56221	0.460000	0.39030	GTC		0.368	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		10	81	0	0	0	0	10	81				
GRIA2	2891	broad.mit.edu	37	4	158284089	158284089	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:158284089G>T	ENST00000264426.9	+	15	2824	c.2545G>T	c.(2545-2547)Gca>Tca	p.A849S	GRIA2_ENST00000393815.2_Missense_Mutation_p.A802S|GRIA2_ENST00000449365.1_Missense_Mutation_p.A802S|GRIA2_ENST00000507898.1_Missense_Mutation_p.A802S|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000296526.7_Missense_Mutation_p.A849S	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	849					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AATGAAGGTGGCAAAGAATGC	0.433																																						uc003ipm.3		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(2545-2547)GCA>TCA		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						150.0	134.0	140.0					4																	158284089		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158284089G>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2545G>T	4.37:g.158284089G>T	ENSP00000264426:p.Ala849Ser					GRIA2_uc011cit.1_Missense_Mutation_p.A802S|GRIA2_uc003ipl.3_Missense_Mutation_p.A849S|GRIA2_uc003ipk.3_Missense_Mutation_p.A802S|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	p.A849S	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	15	3004	+	all_hematologic(180;0.24)	Renal(120;0.0458)	849			Cytoplasmic (Potential).		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.2545G>T	CCDS43274.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.507|7.507	0.653832|0.653832	0.14580|0.14580	.|.	.|.	ENSG00000120251|ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365|ENST00000510854	T;T;T;T;T|.	0.13538|.	2.58;2.58;2.63;2.63;2.58|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.286389|.	0.38778|.	N|.	0.001579|.	T|T	0.56529|0.56529	0.1991|0.1991	N|N	0.20766|0.20766	0.605|0.605	0.80722|0.80722	D|D	1|1	B;B;B|.	0.17038|.	0.002;0.02;0.006|.	B;B;B|.	0.17722|.	0.002;0.019;0.003|.	T|T	0.47535|0.47535	-0.9110|-0.9110	10|5	0.02654|.	T|.	1|.	.|.	20.6721|20.6721	0.99693|0.99693	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	849;849;802|.	P42262;P42262-2;A8MT92|.	GRIA2_HUMAN;.;.|.	S|V	802;802;849;849;802|179	ENSP00000426845:A802S;ENSP00000377403:A802S;ENSP00000296526:A849S;ENSP00000264426:A849S;ENSP00000389837:A802S|.	ENSP00000264426:A849S|.	A|G	+|+	1|2	0|0	GRIA2|GRIA2	158503539|158503539	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.748000|7.748000	0.85085|0.85085	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GCA|GGC		0.433	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			24	102	1	0	2.89e-11	3.23e-11	24	102				
SEMA5A	9037	broad.mit.edu	37	5	9108255	9108255	+	Silent	SNP	A	A	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:9108255A>G	ENST00000382496.5	-	16	2735	c.2070T>C	c.(2068-2070)aaT>aaC	p.N690N		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	690	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TACTCACCACATTGCAGCCTG	0.542																																						uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2068-2070)AAT>AAC		semaphorin 5A precursor							71.0	59.0	63.0					5																	9108255		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9108255A>G	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2070T>C	5.37:g.9108255A>G							p.N690N	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			16	2782	-			690			TSP type-1 3.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.2070T>C	CCDS3875.1																																																																																				0.542	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			13	52	0	0	0	0	13	52				
MARCH6	10299	broad.mit.edu	37	5	10414543	10414543	+	Splice_Site	SNP	A	A	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:10414543A>T	ENST00000274140.5	+	20	2028		c.e20-1		MARCH6_ENST00000449913.2_Splice_Site|MARCH6_ENST00000510792.1_Splice_Site|MARCH6_ENST00000503788.1_Splice_Site	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase						protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTTACTTTGCAGATATTTCTG	0.348																																						uc003jet.1		NA																	0				ovary(1)|breast(1)	2						c.e20-2		membrane-associated ring finger (C3HC4) 6							225.0	198.0	208.0					5																	10414543		2203	4300	6503	SO:0001630	splice_region_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10414543A>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1897-1A>T	5.37:g.10414543A>T						MARCH6_uc011cmu.1_Splice_Site_p.I585_splice|MARCH6_uc003jeu.1_Splice_Site_p.I331_splice|MARCH6_uc011cmv.1_Splice_Site_p.I528_splice	p.I633_splice	NM_005885	NP_005876	O60337	MARH6_HUMAN			20	2080	+								A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Splice_Site	SNP	ENST00000274140.5	37	c.1897_splice	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.519992	0.85495	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8637	0.79047	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MARCH6	10467543	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.737000	0.91562	2.136000	0.66102	0.533000	0.62120	.		0.348	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885	Intron	64	112	0	0	0	0	64	112				
CDH10	1008	broad.mit.edu	37	5	24593422	24593422	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:24593422G>C	ENST00000264463.4	-	2	685	c.178C>G	c.(178-180)Caa>Gaa	p.Q60E	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	60	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q60*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAGAAAAATTGATTCCACATC	0.383										HNSCC(23;0.051)																												uc003jgr.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(178-180)CAA>GAA		cadherin 10, type 2 preproprotein							132.0	131.0	131.0					5																	24593422		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.chr5:24593422G>C	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.178C>G	5.37:g.24593422G>C	ENSP00000264463:p.Gln60Glu	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.Q60E	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	2	510	-			60			Cadherin 1.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.178C>G	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172025	0.78452	.	.	ENSG00000040731	ENST00000264463	T	0.00537	6.72	4.37	4.37	0.52481	Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.01905	0.0060	M	0.81112	2.525	0.44523	D	0.997472	D	0.69078	0.997	P	0.57371	0.819	T	0.58725	-0.7586	10	0.87932	D	0	.	16.3044	0.82842	0.0:0.0:1.0:0.0	.	60	Q9Y6N8	CAD10_HUMAN	E	60	ENSP00000264463:Q60E	ENSP00000264463:Q60E	Q	-	1	0	CDH10	24629179	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	8.830000	0.92063	2.145000	0.66743	0.585000	0.79938	CAA		0.383	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		6	236	0	0	0	0	6	236				
ITGA2	3673	broad.mit.edu	37	5	52347333	52347333	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:52347333G>A	ENST00000296585.5	+	7	866	c.723G>A	c.(721-723)caG>caA	p.Q241Q		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	241	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CAACATCCCAGACATCCCAAT	0.373																																						uc003joy.2		NA																	0				lung(1)	1						c.(721-723)CAG>CAA		integrin alpha 2 precursor							118.0	113.0	114.0					5																	52347333		2203	4300	6503	SO:0001819	synonymous_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52347333G>A		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.723G>A	5.37:g.52347333G>A						ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Silent_p.Q165Q|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	p.Q241Q	NM_002203	NP_002194	P17301	ITA2_HUMAN			7	866	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	241			Extracellular (Potential).|VWFA.		Q14595	Silent	SNP	ENST00000296585.5	37	c.723G>A	CCDS3957.1																																																																																				0.373	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		43	80	0	0	0	0	43	80				
PIK3R1	5295	broad.mit.edu	37	5	67591278	67591279	+	Nonsense_Mutation	DNP	GA	GA	CT			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:67591278_67591279GA>CT	ENST00000521381.1	+	14	2392_2393	c.1776_1777GA>CT	c.(1774-1779)aaGAag>aaCTag	p.592_593KK>N*	PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.592_593KK>N*|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.322_323KK>N*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.592_593KK>N*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.292_293KK>N*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.592_593KK>N*|PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.229_230KK>N*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	592					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.M582_D605>I(4)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TTCGGCAAAAGAAGTTGAACGA	0.361			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2		NA		Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		7	Complex - deletion inframe(4)|Whole gene deletion(1)|Deletion - Frameshift(1)|Unknown(1)	p.M582_D605>I(4)|p.Y580fs*1(1)|p.?(1)	large_intestine(4)|lung(1)|ovary(1)|central_nervous_system(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(1774-1779)AAGAAG>AACTAG		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)																																			SO:0001587	stop_gained	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591278_67591279GA>CT	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	Exception_encountered	5.37:g.67591278_67591279delinsCT	ENSP00000428056:p.K592_K593delinsN*	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Nonsense_Mutation_p.592_593KK>N*|PIK3R1_uc003jvc.2_Nonsense_Mutation_p.292_293KK>N*|PIK3R1_uc003jvd.2_Nonsense_Mutation_p.322_323KK>N*|PIK3R1_uc003jve.2_Nonsense_Mutation_p.271_272KK>N*|PIK3R1_uc011crb.1_Nonsense_Mutation_p.262_263KK>N*	p.592_593KK>N*	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	14	2336_2337	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	592_593					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Nonsense_Mutation	DNP	ENST00000521381.1	37	c.1776_1777GA>CT	CCDS3993.1																																																																																				0.361	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		5	73	0	0	0	0	5	73				
PCDHAC1	56135	broad.mit.edu	37	5	140308890	140308890	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:140308890C>A	ENST00000253807.2	+	1	2413	c.2413C>A	c.(2413-2415)Cac>Aac	p.H805N	PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.H805N|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	805					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAGGGGATCACGCTAATGT	0.453																																						uc003lih.2		NA																	0				skin(3)|ovary(2)	5						c.(2413-2415)CAC>AAC		protocadherin alpha subfamily C, 1 isoform 1							115.0	109.0	111.0					5																	140308890		2203	4300	6503	SO:0001583	missense	56135				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140308890C>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.2413C>A	5.37:g.140308890C>A	ENSP00000253807:p.His805Asn					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_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.H805N	p.H805N	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2589	+			805			Cytoplasmic (Potential).		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.2413C>A	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	C	6.178	0.401093	0.11696	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.50548	0.74;2.88	5.71	4.84	0.62591	.	.	.	.	.	T	0.36580	0.0972	N	0.22421	0.69	0.21256	N	0.999744	B;B	0.30973	0.0;0.302	B;B	0.33620	0.0;0.167	T	0.16158	-1.0412	9	0.14656	T	0.56	.	15.6552	0.77129	0.1387:0.8613:0.0:0.0	.	805;805	Q9H158;Q9H158-2	PCDC1_HUMAN;.	N	805	ENSP00000386356:H805N;ENSP00000253807:H805N	ENSP00000253807:H805N	H	+	1	0	PCDHAC1	140289074	0.005000	0.15991	0.876000	0.34364	0.926000	0.56050	1.427000	0.34881	1.384000	0.46424	0.563000	0.77884	CAC		0.453	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		22	162	1	0	2.45e-14	2.79e-14	22	162				
GABRB2	2561	broad.mit.edu	37	5	160973412	160973412	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:160973412C>A	ENST00000393959.1	-	2	84	c.85G>T	c.(85-87)Gac>Tac	p.D29Y	GABRB2_ENST00000274547.2_Missense_Mutation_p.D29Y|GABRB2_ENST00000520240.1_Missense_Mutation_p.D29Y|GABRB2_ENST00000353437.6_Missense_Mutation_p.D29Y|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000523730.1_5'Flank			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	29					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTACTAGGGTCATTGACACTA	0.443																																						uc003lys.1		NA																	0					0						c.(85-87)GAC>TAC		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						77.0	71.0	73.0					5																	160973412		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160973412C>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.85G>T	5.37:g.160973412C>A	ENSP00000377531:p.Asp29Tyr					GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Missense_Mutation_p.D29Y|GABRB2_uc003lyt.1_Missense_Mutation_p.D29Y|GABRB2_uc010jiu.1_Intron|GABRB2_uc011dei.1_Missense_Mutation_p.D29Y	p.D29Y	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	303	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	29			Extracellular (Probable).		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.85G>T	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770784	0.69992	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240	T;T;T;T	0.80994	-1.44;-1.44;-1.43;-1.43	5.59	5.59	0.84812	.	0.586078	0.19123	N	0.122122	D	0.83050	0.5170	L	0.27053	0.805	0.80722	D	1	P;D;D	0.59357	0.939;0.985;0.964	P;P;P	0.58780	0.707;0.845;0.785	D	0.84774	0.0769	10	0.72032	D	0.01	.	19.661	0.95871	0.0:1.0:0.0:0.0	.	29;29;29	B7Z4P0;P47870;P47870-1	.;GBRB2_HUMAN;.	Y	29	ENSP00000377531:D29Y;ENSP00000274547:D29Y;ENSP00000274546:D29Y;ENSP00000429320:D29Y	ENSP00000274547:D29Y	D	-	1	0	GABRB2	160905990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.726000	0.84824	2.649000	0.89929	0.644000	0.83932	GAC		0.443	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			14	48	1	0	2.32e-09	2.55e-09	14	48				
SPDL1	54908	broad.mit.edu	37	5	169031117	169031117	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:169031117C>G	ENST00000265295.4	+	12	2003	c.1724C>G	c.(1723-1725)tCa>tGa	p.S575*		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		AAAGAAACTTCAAGCAAATTG	0.363																																						uc003mae.3		NA																	0				ovary(1)|liver(1)	2						c.(1723-1725)TCA>TGA		coiled-coil domain containing 99							69.0	76.0	74.0					5																	169031117		2203	4300	6503	SO:0001587	stop_gained	54908				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding	g.chr5:169031117C>G	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1724C>G	5.37:g.169031117C>G	ENSP00000265295:p.Ser575*					CCDC99_uc011deq.1_Nonsense_Mutation_p.S392*|CCDC99_uc010jjk.2_Nonsense_Mutation_p.S301*	p.S575*	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		12	2003	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	575						Nonsense_Mutation	SNP	ENST00000265295.4	37	c.1724C>G	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	C	39	7.764212	0.98477	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	.	.	.	5.84	5.84	0.93424	.	0.774581	0.12502	N	0.463234	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-0.6176	9.2718	0.37675	0.1458:0.7801:0.0:0.0741	.	.	.	.	X	575;476	.	ENSP00000265295:S575X	S	+	2	0	CCDC99	168963695	0.997000	0.39634	0.968000	0.41197	0.997000	0.91878	2.149000	0.42244	2.779000	0.95612	0.650000	0.86243	TCA		0.363	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		32	81	0	0	0	0	32	81				
KDM1B	221656	broad.mit.edu	37	6	18207751	18207751	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:18207751C>T	ENST00000297792.5	+	12	1263	c.1086C>T	c.(1084-1086)ctC>ctT	p.L362L	KDM1B_ENST00000388870.2_Silent_p.L594L|KDM1B_ENST00000397244.1_Silent_p.L362L|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	594	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						ACATTCAACTCAAATCTCCAG	0.517																																						uc003nco.1		NA																	0				skin(1)	1						c.(1171-1173)CTC>CTT		amine oxidase (flavin containing) domain 1							81.0	72.0	75.0					6																	18207751		2203	4300	6503	SO:0001819	synonymous_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18207751C>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1086C>T	6.37:g.18207751C>T						KDM1B_uc003ncn.1_Silent_p.L362L	p.L391L	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN			9	1248	+			594					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Silent	SNP	ENST00000297792.5	37	c.1173C>T	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	C	3.985	-0.005562	0.07773	.	.	ENSG00000165097	ENST00000449850	.	.	.	5.64	-1.31	0.09230	.	.	.	.	.	T	0.26011	0.0634	.	.	.	0.44807	D	0.997818	.	.	.	.	.	.	T	0.24476	-1.0159	4	.	.	.	-22.785	3.3712	0.07222	0.1024:0.1495:0.4222:0.3259	.	.	.	.	L	411	.	.	S	+	2	0	KDM1B	18315730	0.017000	0.18338	0.043000	0.18650	0.601000	0.36947	-0.693000	0.05121	-0.146000	0.11274	0.655000	0.94253	TCA		0.517	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		29	70	0	0	0	0	29	70				
SKIV2L	6499	broad.mit.edu	37	6	31931233	31931233	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:31931233C>T	ENST00000375394.2	+	14	1560	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C	SKIV2L_ENST00000544581.1_Missense_Mutation_p.R290C	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	483					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CACTGTAACCCGCCCCGTGCC	0.562																																						uc003nyn.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(1447-1449)CGC>TGC		superkiller viralicidic activity 2-like homolog							66.0	67.0	67.0					6																	31931233		2203	4300	6503	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31931233C>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1447C>T	6.37:g.31931233C>T	ENSP00000364543:p.Arg483Cys					SKIV2L_uc011dou.1_Missense_Mutation_p.R325C|SKIV2L_uc011dov.1_Missense_Mutation_p.R290C	p.R483C	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			14	1836	+			483					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.1447C>T	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027578	0.75390	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	D;D	0.83075	-1.62;-1.68	5.3	5.3	0.74995	DEAD-like helicase (1);	0.051701	0.85682	D	0.000000	D	0.91616	0.7351	H	0.95294	3.65	0.80722	D	1	D	0.63046	0.992	P	0.55749	0.783	D	0.93602	0.6931	10	0.87932	D	0	-7.0371	17.9375	0.89017	0.0:1.0:0.0:0.0	.	483	Q15477	SKIV2_HUMAN	C	483;325;290	ENSP00000364543:R483C;ENSP00000442645:R290C	ENSP00000364543:R483C	R	+	1	0	SKIV2L	32039212	0.990000	0.36364	0.923000	0.36655	0.917000	0.54804	2.875000	0.48491	2.757000	0.94681	0.650000	0.86243	CGC		0.562	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			21	89	0	0	0	0	21	89				
B3GALT4	8705	broad.mit.edu	37	6	33245570	33245570	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:33245570G>T	ENST00000451237.1	+	1	654	c.374G>T	c.(373-375)gGg>gTg	p.G125V		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	125					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GGTTCCCAGGGGAGTGACCTG	0.672																																						uc003odr.2		NA																	0				ovary(1)|breast(1)	2						c.(373-375)GGG>GTG		UDP-Gal:betaGlcNAc beta							54.0	64.0	60.0					6																	33245570		2203	4299	6502	SO:0001583	missense	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33245570G>T	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.374G>T	6.37:g.33245570G>T	ENSP00000390784:p.Gly125Val						p.G125V	NM_003782	NP_003773	O96024	B3GT4_HUMAN			1	654	+			125			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000451237.1	37	c.374G>T	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	G	0.446	-0.896298	0.02472	.	.	ENSG00000235863	ENST00000451237	T	0.36520	1.25	3.5	1.4	0.22301	.	1.793860	0.02803	N	0.123401	T	0.08670	0.0215	N	0.20685	0.6	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.22347	-1.0219	10	0.54805	T	0.06	.	2.481	0.04587	0.2989:0.0:0.4728:0.2283	.	125	O96024	B3GT4_HUMAN	V	125	ENSP00000390784:G125V	ENSP00000390784:G125V	G	+	2	0	B3GALT4	33353548	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.162000	0.16501	0.163000	0.19507	0.643000	0.83706	GGG		0.672	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			44	207	1	0	5.2e-24	6e-24	44	207				
CUL9	23113	broad.mit.edu	37	6	43155036	43155037	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:43155036_43155037CC>TT	ENST00000252050.4	+	6	1524_1525	c.1440_1441CC>TT	c.(1438-1443)taCCtc>taTTtc	p.L481F	CUL9_ENST00000354495.3_Intron|CUL9_ENST00000372647.2_Missense_Mutation_p.L481F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	481					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTTTGCCGTACCTCCAGCCCGA	0.54																																						uc003ouk.2		NA																	0				ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(1438-1443)TACCTC>TATTTC		p53-associated parkin-like cytoplasmic protein																																				SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43155036_43155037CC>TT	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	Exception_encountered	6.37:g.43155036_43155037delinsTT	ENSP00000252050:p.Leu481Phe					CUL9_uc003ouj.1_Intron|CUL9_uc003oul.2_Missense_Mutation_p.L481F|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Intron	p.L481F	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			6	1515_1516	+			481					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	DNP	ENST00000252050.4	37	c.1440_1441CC>TT	CCDS4890.1																																																																																				0.540	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		43	219	0	0	0	0	43	219				
CASP8AP2	9994	broad.mit.edu	37	6	90572083	90572083	+	RNA	SNP	G	G	A	rs374867724		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:90572083G>A	ENST00000551025.1	+	0	2092									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TACATCTGTTGAGAAACACTG	0.388																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2		NA																	0				ovary(2)	2						c.(655-657)GAG>AAG		caspase 8 associated protein 2		G	LYS/GLU,LYS/GLU,LYS/GLU	0,3840		0,0,1920	249.0	231.0	237.0		655,655,655	5.6	0.9	6		237	1,8249		0,1,4124	no	missense,missense,missense	CASP8AP2	NM_001137667.1,NM_001137668.1,NM_012115.3	56,56,56	0,1,6044	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging,probably-damaging,probably-damaging	219/1967,219/1967,219/1967	90572083	1,12089	1920	4125	6045			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90572083G>A	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572083G>A						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E219K|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E219K	p.E219K	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	7	851	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	219						Missense_Mutation	SNP	ENST00000551025.1	37	c.655G>A																																																																																					0.388	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		31	231	0	0	0	0	31	231				
GJA10	84694	broad.mit.edu	37	6	90605064	90605064	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:90605064C>G	ENST00000369352.1	+	1	877	c.877C>G	c.(877-879)Cga>Gga	p.R293G	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	0					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GCAAGTCATTCGAGTTAATGT	0.433																																						uc011eaa.1		NA																	0					0						c.(877-879)CGA>GGA		gap junction protein, alpha 10							78.0	73.0	75.0					6																	90605064		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90605064C>G	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.877C>G	6.37:g.90605064C>G	ENSP00000358358:p.Arg293Gly						p.R293G	NM_032602	NP_115991	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	877	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	293			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.877C>G	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432474	0.43224	.	.	ENSG00000135355	ENST00000369352	D	0.97505	-4.41	5.07	4.17	0.49024	.	1.972700	0.03676	U	0.244736	D	0.91479	0.7310	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.80301	-0.1440	10	0.25106	T	0.35	.	13.3425	0.60553	0.0:0.8287:0.1713:0.0	.	293	Q969M2	CXA10_HUMAN	G	293	ENSP00000358358:R293G	ENSP00000358358:R293G	R	+	1	2	GJA10	90661785	0.000000	0.05858	0.006000	0.13384	0.807000	0.45602	0.421000	0.21280	2.648000	0.89879	0.563000	0.77884	CGA		0.433	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		10	77	0	0	0	0	10	77				
EIF3B	8662	broad.mit.edu	37	7	2415133	2415133	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:2415133G>A	ENST00000360876.4	+	14	2055	c.1999G>A	c.(1999-2001)Gtc>Atc	p.V667I	EIF3B_ENST00000397011.2_Missense_Mutation_p.V667I	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GCGCTACGTCGTCACCTCTGT	0.562																																						uc003slx.2		NA																	0					0						c.(1999-2001)GTC>ATC		eukaryotic translation initiation factor 3,							143.0	104.0	117.0					7																	2415133		2203	4300	6503	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2415133G>A	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1999G>A	7.37:g.2415133G>A	ENSP00000354125:p.Val667Ile					EIF3B_uc003sly.2_Missense_Mutation_p.V667I|EIF3B_uc003sma.2_Missense_Mutation_p.V395I|EIF3B_uc003smb.2_5'Flank	p.V667I	NM_003751	NP_003742	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	14	2082	+		Ovarian(82;0.0253)	667			WD 5.			Missense_Mutation	SNP	ENST00000360876.4	37	c.1999G>A	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285073	0.23392	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.06142	3.34;3.34	5.46	3.5	0.40072	Translation initiation factor 2A, beta propellor-like domain (1);Six-bladed beta-propeller, TolB-like (1);	0.106620	0.64402	N	0.000006	T	0.07458	0.0188	L	0.51914	1.62	0.44652	D	0.99763	B	0.21520	0.057	B	0.21708	0.036	T	0.17228	-1.0376	10	0.41790	T	0.15	-26.9982	9.5243	0.39154	0.2521:0.0:0.7479:0.0	.	667	P55884	EIF3B_HUMAN	I	667;667;667;591	ENSP00000354125:V667I;ENSP00000380206:V667I	ENSP00000316638:V667I	V	+	1	0	EIF3B	2381659	1.000000	0.71417	0.131000	0.22000	0.234000	0.25298	4.808000	0.62583	0.558000	0.29135	0.655000	0.94253	GTC		0.562	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			24	84	0	0	0	0	24	84				
GHRHR	2692	broad.mit.edu	37	7	31008504	31008504	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:31008504A>G	ENST00000326139.2	+	2	159	c.113A>G	c.(112-114)gAg>gGg	p.E38G	GHRHR_ENST00000409904.3_5'Flank|GHRHR_ENST00000409316.1_5'Flank	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	38					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	AGAGAGGATGAGAGTGCCTGT	0.537																																						uc003tbx.2		NA																	0				ovary(2)|lung(1)|breast(1)|large_intestine(1)	5						c.(112-114)GAG>GGG		growth hormone releasing hormone receptor	Sermorelin(DB00010)						137.0	112.0	120.0					7																	31008504		2203	4300	6503	SO:0001583	missense	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31008504A>G		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.113A>G	7.37:g.31008504A>G	ENSP00000320180:p.Glu38Gly					GHRHR_uc003tbw.1_Missense_Mutation_p.E38G|GHRHR_uc003tby.2_5'Flank|GHRHR_uc003tbz.2_5'Flank	p.E38G	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			2	161	+			38			Extracellular (Potential).		Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	c.113A>G	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.799174	0.50208	.	.	ENSG00000106128	ENST00000326139	T	0.55052	0.54	4.11	4.11	0.48088	.	.	.	.	.	T	0.55449	0.1921	L	0.36672	1.1	0.80722	D	1	D	0.65815	0.995	P	0.61132	0.884	T	0.52034	-0.8629	8	.	.	.	.	9.7478	0.40457	1.0:0.0:0.0:0.0	.	38	Q02643	GHRHR_HUMAN	G	38	ENSP00000320180:E38G	.	E	+	2	0	GHRHR	30975029	1.000000	0.71417	0.146000	0.22360	0.055000	0.15305	6.124000	0.71620	1.881000	0.54492	0.529000	0.55759	GAG		0.537	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			11	51	0	0	0	0	11	51				
MAGI2	9863	broad.mit.edu	37	7	78130931	78130931	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:78130931T>A	ENST00000354212.4	-	5	1181	c.928A>T	c.(928-930)Atg>Ttg	p.M310L	MAGI2_ENST00000419488.1_Missense_Mutation_p.M310L|MAGI2_ENST00000522391.1_Missense_Mutation_p.M310L|MAGI2_ENST00000536571.1_Missense_Mutation_p.M142L|MAGI2_ENST00000535697.1_Missense_Mutation_p.M147L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	310	Interaction with DDN.|WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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)				GTATAGGCCATTTCCCAGTTA	0.448																																						uc003ugx.2		NA																	0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(928-930)ATG>TTG		membrane associated guanylate kinase, WW and PDZ							279.0	231.0	247.0					7																	78130931		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78130931T>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.928A>T	7.37:g.78130931T>A	ENSP00000346151:p.Met310Leu					MAGI2_uc003ugy.2_Missense_Mutation_p.M310L|MAGI2_uc011kgr.1_Missense_Mutation_p.M142L|MAGI2_uc011kgs.1_Missense_Mutation_p.M147L	p.M310L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			5	1182	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	310			WW 1.|Interaction with DDN.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.928A>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.907127	0.92107	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	5.9	5.9	0.94986	WW/Rsp5/WWP (5);	0.000000	0.44097	U	0.000487	D	0.87577	0.6212	L	0.41824	1.3	0.80722	D	1	D;P;D;P	0.71674	0.998;0.846;0.998;0.856	D;P;D;P	0.81914	0.995;0.71;0.995;0.881	D	0.88660	0.3188	10	0.72032	D	0.01	.	15.5095	0.75769	0.0:0.0:0.0:1.0	.	147;142;310;310	F5GWH1;F5GWK7;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	L	310;310;310;310;142;147	ENSP00000405766:M310L;ENSP00000346151:M310L;ENSP00000428389:M310L;ENSP00000441584:M142L;ENSP00000441603:M147L	ENSP00000346151:M310L	M	-	1	0	MAGI2	77968867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.257000	0.74773	0.533000	0.62120	ATG		0.448	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		23	179	0	0	0	0	23	179				
SAMD9	54809	broad.mit.edu	37	7	92733477	92733477	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:92733477T>A	ENST00000379958.2	-	3	2203	c.1934A>T	c.(1933-1935)gAa>gTa	p.E645V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	645						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GATATCTTCTTCCTTTTTCAG	0.353																																						uc003umf.2		NA																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(1933-1935)GAA>GTA		sterile alpha motif domain containing 9							93.0	96.0	95.0					7																	92733477		2203	4299	6502	SO:0001583	missense	54809					cytoplasm		g.chr7:92733477T>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1934A>T	7.37:g.92733477T>A	ENSP00000369292:p.Glu645Val					SAMD9_uc003umg.2_Missense_Mutation_p.E645V	p.E645V	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	2190	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		645					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.1934A>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.765759	0.31228	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.25749	1.78;2.6	4.35	4.35	0.52113	.	0.292616	0.26474	N	0.024175	T	0.26810	0.0656	L	0.59436	1.845	0.28853	N	0.895949	B	0.25312	0.123	B	0.20577	0.03	T	0.25222	-1.0138	10	0.87932	D	0	.	12.7664	0.57394	0.0:0.0:0.0:1.0	.	645	Q5K651	SAMD9_HUMAN	V	645	ENSP00000369292:E645V;ENSP00000414529:E645V	ENSP00000369292:E645V	E	-	2	0	SAMD9	92571413	0.854000	0.29725	0.995000	0.50966	0.833000	0.47200	1.342000	0.33919	1.956000	0.56807	0.491000	0.48974	GAA		0.353	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		23	192	0	0	0	0	23	192				
NPTX2	4885	broad.mit.edu	37	7	98248963	98248963	+	Silent	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:98248963C>G	ENST00000265634.3	+	2	600	c.435C>G	c.(433-435)ctC>ctG	p.L145L		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	145					synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGCACCAGCTCAGAGCAAACG	0.607																																						uc003upl.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(433-435)CTC>CTG		neuronal pentraxin II precursor							44.0	51.0	49.0					7																	98248963		2188	4277	6465	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98248963C>G		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.435C>G	7.37:g.98248963C>G							p.L145L	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	612	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		145					A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.435C>G	CCDS5657.1																																																																																				0.607	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		57	135	0	0	0	0	57	135				
OR2A7	401427	broad.mit.edu	37	7	143956646	143956646	+	Missense_Mutation	SNP	G	G	A	rs563809294		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:143956646G>A	ENST00000493325.1	-	1	169	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	OR2A1-AS1_ENST00000476560.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000487102.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					AGCCCAAAGAGGAGCATCTGA	0.527													g|||	1	0.000199681	0.0	0.0014	5008	,	,		29579	0.0		0.0	False		,,,				2504	0.0					uc011kuc.1		NA																	0				ovary(1)	1						c.(76-78)CTC>TTC		olfactory receptor, family 2, subfamily A,							79.0	100.0	93.0					7																	143956646		2110	4208	6318	SO:0001583	missense	401427				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143956646G>A		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"""GPCR / Class A : Olfactory receptors"""	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.76C>T	7.37:g.143956646G>A	ENSP00000420502:p.Leu26Phe					OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.2_3'UTR	p.L26F	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN			1	76	-	Melanoma(164;0.14)		26			Helical; Name=1; (Potential).		B2RN57|Q6IFP4	Missense_Mutation	SNP	ENST00000493325.1	37	c.76C>T	CCDS55177.1	.	.	.	.	.	.	.	.	.	.	g	7.778	0.708830	0.15239	.	.	ENSG00000243896	ENST00000493325	T	0.17213	2.29	3.21	3.21	0.36854	.	.	.	.	.	T	0.17831	0.0428	L	0.45137	1.4	0.24902	N	0.9921	P	0.40431	0.717	B	0.40134	0.32	T	0.09422	-1.0675	9	0.56958	D	0.05	.	12.6686	0.56855	0.0:0.0:1.0:0.0	.	26	Q96R45	OR2A7_HUMAN	F	26	ENSP00000420502:L26F	ENSP00000420502:L26F	L	-	1	0	OR2A7	143587579	0.368000	0.25031	0.278000	0.24718	0.152000	0.21847	1.534000	0.36051	2.082000	0.62665	0.404000	0.27445	CTC		0.527	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1			10	73	0	0	0	0	10	73				
MICU3	286097	broad.mit.edu	37	8	16956031	16956031	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:16956031C>T	ENST00000318063.5	+	9	995	c.953C>T	c.(952-954)aCa>aTa	p.T318I		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	318						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										AGACGTAACACAAGCCAAGCA	0.383																																						uc003wxd.2		NA																	0				skin(1)	1						c.(952-954)ACA>ATA		EF-hand domain family, member A2							167.0	158.0	161.0					8																	16956031		2203	4300	6503	SO:0001583	missense	286097					integral to membrane	calcium ion binding	g.chr8:16956031C>T	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.953C>T	8.37:g.16956031C>T	ENSP00000321455:p.Thr318Ile						p.T318I	NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN		Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)	9	995	+			318					Q8IYZ3	Missense_Mutation	SNP	ENST00000318063.5	37	c.953C>T	CCDS5999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.37|17.37	3.371660|3.371660	0.61624|0.61624	.|.	.|.	ENSG00000155970|ENSG00000155970	ENST00000519044|ENST00000318063	.|T	.|0.46819	.|0.86	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.110495	.|0.64402	.|D	.|0.000008	.|T	.|0.46698	.|0.1406	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.99999|0.99999	.|D	.|0.56035	.|0.974	.|B	.|0.43331	.|0.416	.|T	.|0.42378	.|-0.9455	.|10	.|0.35671	.|T	.|0.21	-13.6089|-13.6089	19.208|19.208	0.93742|0.93742	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|318	.|Q86XE3	.|EFHA2_HUMAN	X|I	163|318	.|ENSP00000321455:T318I	.|ENSP00000321455:T318I	Q|T	+|+	1|2	0|0	EFHA2|EFHA2	17000402|17000402	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.966000|0.966000	0.64601|0.64601	7.145000|7.145000	0.77365|0.77365	2.619000|2.619000	0.88677|0.88677	0.655000|0.655000	0.94253|0.94253	CAA|ACA		0.383	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		53	140	0	0	0	0	53	140				
UNC5D	137970	broad.mit.edu	37	8	35608198	35608198	+	Silent	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:35608198C>A	ENST00000404895.2	+	13	2362	c.2034C>A	c.(2032-2034)ctC>ctA	p.L678L	UNC5D_ENST00000287272.2_Silent_p.L609L|UNC5D_ENST00000449677.1_Silent_p.L254L|UNC5D_ENST00000416672.1_Silent_p.L683L|UNC5D_ENST00000420357.1_Silent_p.L611L|UNC5D_ENST00000453357.2_Silent_p.L673L	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	678					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCTATGCGCTCACTGGAGAGC	0.498																																						uc003xjr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(2032-2034)CTC>CTA		unc-5 homolog D precursor							255.0	212.0	226.0					8																	35608198		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35608198C>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2034C>A	8.37:g.35608198C>A						UNC5D_uc003xjs.1_Silent_p.L673L|UNC5D_uc003xju.1_Silent_p.L254L	p.L678L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	13	2362	+			678			Cytoplasmic (Potential).		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.2034C>A	CCDS6093.2																																																																																				0.498	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			45	284	1	0	1.97e-11	2.22e-11	45	284				
SPIDR	23514	broad.mit.edu	37	8	48309175	48309175	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:48309175G>C	ENST00000297423.4	+	6	1149	c.765G>C	c.(763-765)aaG>aaC	p.K255N	SPIDR_ENST00000518074.1_Missense_Mutation_p.K195N|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.K185N	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	255	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											CAGCAAAGAAGAAGCTTTTAA	0.313																																						uc003xqd.2		NA																	0					0						c.(763-765)AAG>AAC		hypothetical protein LOC23514							121.0	122.0	121.0					8																	48309175		1795	4061	5856	SO:0001583	missense	23514							g.chr8:48309175G>C	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.765G>C	8.37:g.48309175G>C	ENSP00000297423:p.Lys255Asn					KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Missense_Mutation_p.K255N|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.K185N|KIAA0146_uc011ldd.1_Missense_Mutation_p.K195N|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Intron	p.K255N	NM_001080394	NP_001073863	Q14159	K0146_HUMAN			6	774	+		Lung NSC(58;0.175)	255					B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.765G>C	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757706	0.49468	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342	.	.	.	4.83	2.04	0.26737	.	0.118230	0.53938	D	0.000047	T	0.47525	0.1450	M	0.66939	2.045	0.33376	D	0.574227	P;B;P;B	0.35242	0.492;0.192;0.492;0.192	B;B;B;B	0.38562	0.171;0.078;0.276;0.135	T	0.56105	-0.8034	9	0.87932	D	0	.	3.7588	0.08596	0.2745:0.0:0.554:0.1715	.	195;185;255;255	B4E0Y6;B4DFV2;B4DEV5;Q14159	.;.;.;K0146_HUMAN	N	255;195;185	.	ENSP00000297423:K255N	K	+	3	2	KIAA0146	48471728	0.998000	0.40836	0.513000	0.27749	0.888000	0.51559	0.293000	0.19029	0.114000	0.18032	0.591000	0.81541	AAG		0.313	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		88	174	0	0	0	0	88	174				
XKR4	114786	broad.mit.edu	37	8	56015448	56015448	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:56015448G>A	ENST00000327381.6	+	1	500	c.400G>A	c.(400-402)Gtg>Atg	p.V134M		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	134						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTGGCTCGCCGTGGACTACTA	0.662																																						uc003xsf.2		NA																	0				pancreas(2)	2						c.(400-402)GTG>ATG		XK, Kell blood group complex subunit-related							57.0	47.0	50.0					8																	56015448		2201	4300	6501	SO:0001583	missense	114786					integral to membrane		g.chr8:56015448G>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.400G>A	8.37:g.56015448G>A	ENSP00000328326:p.Val134Met						p.V134M	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	432	+			134			Helical; (Potential).		Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.400G>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210565	0.79240	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.66815	-0.23	5.18	5.18	0.71444	.	0.728272	0.11931	N	0.515704	T	0.76716	0.4026	M	0.64170	1.965	0.36556	D	0.872159	D	0.54964	0.969	P	0.53490	0.727	T	0.78940	-0.2006	10	0.46703	T	0.11	-1.0544	18.6859	0.91563	0.0:0.0:1.0:0.0	.	134	Q5GH76	XKR4_HUMAN	M	134	ENSP00000328326:V134M	ENSP00000328326:V134M	V	+	1	0	XKR4	56178002	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.148000	0.77389	2.406000	0.81754	0.650000	0.86243	GTG		0.662	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		7	118	0	0	0	0	7	118				
XKR4	114786	broad.mit.edu	37	8	56015674	56015674	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:56015674C>A	ENST00000327381.6	+	1	726	c.626C>A	c.(625-627)cCt>cAt	p.P209H		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	209						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GAGGCTCGTCCTTCCACGCCG	0.692																																						uc003xsf.2		NA																	0				pancreas(2)	2						c.(625-627)CCT>CAT		XK, Kell blood group complex subunit-related							29.0	31.0	31.0					8																	56015674		2203	4297	6500	SO:0001583	missense	114786					integral to membrane		g.chr8:56015674C>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.626C>A	8.37:g.56015674C>A	ENSP00000328326:p.Pro209His						p.P209H	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	658	+			209					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.626C>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123784	0.56613	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.83250	-1.7	5.43	5.43	0.79202	.	0.982504	0.08299	N	0.967197	D	0.82623	0.5077	L	0.55481	1.735	0.44956	D	0.997975	B	0.26512	0.151	B	0.28465	0.09	T	0.70124	-0.4958	10	0.16420	T	0.52	-7.3695	19.249	0.93914	0.0:1.0:0.0:0.0	.	209	Q5GH76	XKR4_HUMAN	H	209	ENSP00000328326:P209H	ENSP00000328326:P209H	P	+	2	0	XKR4	56178228	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.000000	0.76290	2.551000	0.86045	0.555000	0.69702	CCT		0.692	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		22	38	1	0	2.89e-11	3.23e-11	22	38				
GSDMC	56169	broad.mit.edu	37	8	130789715	130789715	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:130789715C>T	ENST00000276708.4	-	2	1000	c.119G>A	c.(118-120)cGa>cAa	p.R40Q		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	40						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTTCTTCTTTCGTAATATAAC	0.398																																						uc003ysr.2		NA																	0				ovary(2)|skin(1)	3						c.(118-120)CGA>CAA		melanoma-derived leucine zipper, extra-nuclear							153.0	141.0	145.0					8																	130789715		2203	4300	6503	SO:0001583	missense	56169					mitochondrion		g.chr8:130789715C>T	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.119G>A	8.37:g.130789715C>T	ENSP00000276708:p.Arg40Gln						p.R40Q	NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN			2	1001	-			40					Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	c.119G>A	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	C	5.027	0.190676	0.09547	.	.	ENSG00000147697	ENST00000276708	T	0.23348	1.91	3.9	-0.272	0.12919	.	0.803958	0.10809	N	0.631858	T	0.07954	0.0199	N	0.11255	0.115	0.09310	N	1	P	0.35684	0.515	B	0.22753	0.041	T	0.26643	-1.0097	10	0.12430	T	0.62	.	3.0092	0.06039	0.1923:0.4599:0.0:0.3478	.	40	Q9BYG8	GSDMC_HUMAN	Q	40	ENSP00000276708:R40Q	ENSP00000276708:R40Q	R	-	2	0	GSDMC	130858897	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.989000	0.01480	-0.177000	0.10690	-0.424000	0.05967	CGA		0.398	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			30	174	0	0	0	0	30	174				
FAM135B	51059	broad.mit.edu	37	8	139180196	139180196	+	Silent	SNP	G	G	T	rs372067880		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:139180196G>T	ENST00000395297.1	-	12	1370	c.1200C>A	c.(1198-1200)ggC>ggA	p.G400G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	400										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTTCCAATCGCCGTCGATGT	0.552										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(1198-1200)GGC>GGA		hypothetical protein LOC51059							107.0	111.0	110.0					8																	139180196		2053	4217	6270	SO:0001819	synonymous_variant	51059							g.chr8:139180196G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1200C>A	8.37:g.139180196G>T		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.G301G|FAM135B_uc003yuz.2_RNA	p.G400G	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		12	1371	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		400					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.1200C>A	CCDS6375.2																																																																																				0.552	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		60	159	1	0	5.11e-33	5.93e-33	60	159				
NTRK2	4915	broad.mit.edu	37	9	87339210	87339210	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr9:87339210C>G	ENST00000323115.4	+	7	1145	c.792C>G	c.(790-792)atC>atG	p.I264M	NTRK2_ENST00000359847.3_Missense_Mutation_p.I264M|NTRK2_ENST00000376208.1_Missense_Mutation_p.I264M|NTRK2_ENST00000277120.3_Missense_Mutation_p.I264M|NTRK2_ENST00000376213.1_Missense_Mutation_p.I264M|NTRK2_ENST00000304053.6_Missense_Mutation_p.I264M|NTRK2_ENST00000395866.2_Missense_Mutation_p.I108M|NTRK2_ENST00000376214.1_Missense_Mutation_p.I264M|NTRK2_ENST00000395882.1_Missense_Mutation_p.I264M			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	264	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	GGAAGCAGATCTCTTGTGTGG	0.393										TSP Lung(25;0.17)																												uc004aoa.1		NA																	0				lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						c.(790-792)ATC>ATG		neurotrophic tyrosine kinase, receptor, type 2							209.0	198.0	202.0					9																	87339210		2203	4300	6503	SO:0001583	missense	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87339210C>G	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.792C>G	9.37:g.87339210C>G	ENSP00000314586:p.Ile264Met	TSP Lung(25;0.17)				NTRK2_uc004anv.1_Missense_Mutation_p.I264M|NTRK2_uc004any.1_Missense_Mutation_p.I264M|NTRK2_uc004anz.1_Missense_Mutation_p.I264M|NTRK2_uc011lsz.1_Missense_Mutation_p.I264M|NTRK2_uc011lta.1_Missense_Mutation_p.I264M|NTRK2_uc004aob.1_Missense_Mutation_p.I264M|NTRK2_uc011ltb.1_Missense_Mutation_p.I108M	p.I264M	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN			10	1730	+			264			Extracellular (Potential).|Ig-like C2-type 1.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	c.792C>G	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492736	0.64074	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	T;T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.27	4.36	0.52297	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.105219	0.64402	D	0.000005	T	0.56499	0.1989	M	0.72894	2.215	0.52501	D	0.999953	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.997;0.997;1.0;0.999	D;D;D;D;D;D;D;D	0.91635	0.999;0.995;0.995;0.997;0.987;0.978;0.999;0.995	T	0.56962	-0.7892	10	0.44086	T	0.13	.	5.2585	0.15559	0.0:0.7171:0.0:0.2829	.	108;264;264;264;264;264;310;264	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	M	264;264;264;264;264;264;264;264;108	ENSP00000365387:I264M;ENSP00000365386:I264M;ENSP00000379221:I264M;ENSP00000365381:I264M;ENSP00000306167:I264M;ENSP00000277120:I264M;ENSP00000314586:I264M;ENSP00000352906:I264M;ENSP00000379207:I108M	ENSP00000277120:I264M	I	+	3	3	NTRK2	86529030	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.468000	0.35332	2.627000	0.88993	0.460000	0.39030	ATC		0.393	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			12	249	0	0	0	0	12	249				
CTNNAL1	8727	broad.mit.edu	37	9	111745497	111745497	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr9:111745497C>T	ENST00000325551.4	-	6	914	c.828G>A	c.(826-828)gtG>gtA	p.V276V	CTNNAL1_ENST00000374595.4_Silent_p.V276V|CTNNAL1_ENST00000325580.6_Silent_p.V276V	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	276					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TACAGTCAGTCACAATTTCAA	0.353																																						uc004bdo.1		NA																	0				ovary(1)	1						c.(826-828)GTG>GTA		catenin, alpha-like 1							155.0	139.0	145.0					9																	111745497		2203	4300	6503	SO:0001819	synonymous_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111745497C>T	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.828G>A	9.37:g.111745497C>T						CTNNAL1_uc010mts.1_Silent_p.V12V|CTNNAL1_uc010mtt.1_Silent_p.V276V|CTNNAL1_uc004bdp.1_Silent_p.V276V	p.V276V	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	6	870	-			276					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Silent	SNP	ENST00000325551.4	37	c.828G>A	CCDS6775.1																																																																																				0.353	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		6	64	0	0	0	0	6	64				
NOTCH1	4851	broad.mit.edu	37	9	139402755	139402755	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr9:139402755C>T	ENST00000277541.6	-	20	3329	c.3254G>A	c.(3253-3255)tGc>tAc	p.C1085Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1085	EGF-like 28. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCGCTGGGGCACTCGCAGCG	0.647			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(3253-3255)TGC>TAC		notch1 preproprotein							70.0	88.0	82.0					9																	139402755		2126	4216	6342	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139402755C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3254G>A	9.37:g.139402755C>T	ENSP00000277541:p.Cys1085Tyr	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Missense_Mutation_p.C315Y	p.C1085Y	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	20	3254	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1085			Extracellular (Potential).|EGF-like 28.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.3254G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081837	0.94050	.	.	ENSG00000148400	ENST00000277541	D	0.99992	-12.4	5.23	5.23	0.72850	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99994	0.9999	H	0.98721	4.31	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.99993	1.4834	10	0.87932	D	0	.	17.788	0.88543	0.0:1.0:0.0:0.0	.	1085	P46531	NOTC1_HUMAN	Y	1085	ENSP00000277541:C1085Y	ENSP00000277541:C1085Y	C	-	2	0	NOTCH1	138522576	1.000000	0.71417	0.927000	0.36925	0.955000	0.61496	7.391000	0.79828	2.439000	0.82584	0.655000	0.94253	TGC		0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		33	58	0	0	0	0	33	58				
BEND2	139105	broad.mit.edu	37	X	18234753	18234753	+	Silent	SNP	T	T	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chrX:18234753T>A	ENST00000380033.4	-	2	258	c.126A>T	c.(124-126)atA>atT	p.I42I	BEND2_ENST00000380030.3_Silent_p.I42I	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	42										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AATCATCTGCTATGTCATTAG	0.418																																						uc004cyj.3		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(124-126)ATA>ATT		BEN domain containing 2							243.0	187.0	206.0					X																	18234753		2203	4300	6503	SO:0001819	synonymous_variant	139105							g.chrX:18234753T>A	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.126A>T	X.37:g.18234753T>A						BEND2_uc010nfb.2_Silent_p.I42I	p.I42I	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			2	280	-			42					E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	ENST00000380033.4	37	c.126A>T	CCDS14184.1																																																																																				0.418	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		26	33	0	0	0	0	26	33				
DMD	1756	broad.mit.edu	37	X	32482777	32482777	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chrX:32482777C>T	ENST00000357033.4	-	24	3408	c.3202G>A	c.(3202-3204)Gat>Aat	p.D1068N	DMD_ENST00000378677.2_Missense_Mutation_p.D1064N	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	1068					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)				AGAAAAACATCAACTTCAGCC	0.388																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6	GRCh37	CI013491	DMD	I		c.(3202-3204)GAT>AAT		dystrophin Dp427m isoform							144.0	113.0	124.0					X																	32482777		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:32482777C>T	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.3202G>A	X.37:g.32482777C>T	ENSP00000354923:p.Asp1068Asn					DMD_uc004dcz.2_Missense_Mutation_p.D945N|DMD_uc004dcy.1_Missense_Mutation_p.D1064N|DMD_uc004ddb.1_Missense_Mutation_p.D1060N|DMD_uc010ngo.1_Intron	p.D1068N	NM_004006	NP_003997	P11532	DMD_HUMAN			24	3446	-		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)	1068			Spectrin 7.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.3202G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817312	0.50633	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.35236	1.32;1.32	4.58	4.58	0.56647	.	0.000000	0.32328	U	0.006241	T	0.31765	0.0807	L	0.45581	1.43	0.80722	D	1	B;B;B	0.20887	0.04;0.034;0.049	B;B;B	0.21360	0.016;0.034;0.028	T	0.15607	-1.0431	10	0.56958	D	0.05	.	10.6812	0.45815	0.0:0.9082:0.0:0.0918	.	1060;1068;1064	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	N	1060;1064;1068;1068;945	ENSP00000367948:D1064N;ENSP00000354923:D1068N	ENSP00000354923:D1068N	D	-	1	0	DMD	32392698	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.044000	0.71012	2.009000	0.58944	0.462000	0.41574	GAT		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		12	84	0	0	0	0	12	84				
TFE3	7030	broad.mit.edu	37	X	48888064	48888064	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chrX:48888064G>C	ENST00000315869.7	-	10	1592	c.1333C>G	c.(1333-1335)Cca>Gca	p.P445A	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	445					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						AGCAGCCCTGGAGTGGGAGGT	0.577			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	uc004dmb.3		NA		Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	SFPQ|ASPSCR1|PRCC|NONO|CLTC		papillary renal|alveolar soft part sarcoma|renal	ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	0				soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						c.(1333-1335)CCA>GCA		transcription factor E3							50.0	46.0	47.0					X																	48888064		2203	4300	6503	SO:0001583	missense	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48888064G>C	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1333C>G	X.37:g.48888064G>C	ENSP00000314129:p.Pro445Ala					TFE3_uc004dmc.3_Missense_Mutation_p.P340A	p.P445A	NM_006521	NP_006512	P19532	TFE3_HUMAN			10	1571	-			445					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	c.1333C>G	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804757	0.50315	.	.	ENSG00000068323	ENST00000315869	T	0.62498	0.02	5.55	4.67	0.58626	.	0.258258	0.39146	N	0.001443	T	0.47021	0.1423	N	0.20986	0.625	0.36575	D	0.8732	B	0.09022	0.002	B	0.10450	0.005	T	0.49890	-0.8891	10	0.54805	T	0.06	-9.3571	9.8019	0.40770	0.0:0.1488:0.6943:0.1569	.	445	P19532	TFE3_HUMAN	A	445	ENSP00000314129:P445A	ENSP00000314129:P445A	P	-	1	0	TFE3	48775008	1.000000	0.71417	0.997000	0.53966	0.779000	0.44077	5.540000	0.67205	1.061000	0.40601	0.513000	0.50165	CCA		0.577	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		13	29	0	0	0	0	13	29				
TFE3	7030	broad.mit.edu	37	X	48888088	48888088	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chrX:48888088G>A	ENST00000315869.7	-	10	1568	c.1309C>T	c.(1309-1311)Cat>Tat	p.H437Y	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	437					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGCAGGCCATGGATCTGGGCC	0.547			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	uc004dmb.3		NA		Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	SFPQ|ASPSCR1|PRCC|NONO|CLTC		papillary renal|alveolar soft part sarcoma|renal	ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	0				soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						c.(1309-1311)CAT>TAT		transcription factor E3							40.0	37.0	38.0					X																	48888088		2203	4300	6503	SO:0001583	missense	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48888088G>A	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1309C>T	X.37:g.48888088G>A	ENSP00000314129:p.His437Tyr					TFE3_uc004dmc.3_Missense_Mutation_p.H332Y	p.H437Y	NM_006521	NP_006512	P19532	TFE3_HUMAN			10	1547	-			437					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	c.1309C>T	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834163	0.71373	.	.	ENSG00000068323	ENST00000315869	T	0.74106	-0.81	5.55	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.78880	0.4353	L	0.52573	1.65	0.80722	D	1	P	0.52577	0.954	P	0.55667	0.781	T	0.80054	-0.1543	10	0.66056	D	0.02	-5.4155	13.6239	0.62153	0.0:0.0:0.8436:0.1564	.	437	P19532	TFE3_HUMAN	Y	437	ENSP00000314129:H437Y	ENSP00000314129:H437Y	H	-	1	0	TFE3	48775032	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.701000	0.98710	1.072000	0.40860	0.513000	0.50165	CAT		0.547	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		10	32	0	0	0	0	10	32				
HDX	139324	broad.mit.edu	37	X	83723928	83723928	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chrX:83723928A>G	ENST00000297977.5	-	3	914	c.803T>C	c.(802-804)tTg>tCg	p.L268S	HDX_ENST00000506585.2_Missense_Mutation_p.L210S|HDX_ENST00000373177.2_Missense_Mutation_p.L268S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	268						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GCTAACTGCCAATGAAAACAC	0.453																																					Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(802-804)TTG>TCG		highly divergent homeobox							92.0	89.0	90.0					X																	83723928		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83723928A>G	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.803T>C	X.37:g.83723928A>G	ENSP00000297977:p.Leu268Ser					HDX_uc011mqv.1_Missense_Mutation_p.L268S|HDX_uc004eel.1_Missense_Mutation_p.L210S	p.L268S	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			3	912	-			268					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.803T>C	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.298267	0.60195	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.59224	0.44;0.28;0.44	5.45	5.45	0.79879	.	0.196334	0.36134	N	0.002768	T	0.73916	0.3648	M	0.65498	2.005	0.49051	D	0.99974	D	0.76494	0.999	D	0.80764	0.994	T	0.77222	-0.2667	10	0.87932	D	0	-7.7711	14.7354	0.69412	1.0:0.0:0.0:0.0	.	268	Q7Z353	HDX_HUMAN	S	268;210;268	ENSP00000297977:L268S;ENSP00000362272:L210S;ENSP00000423670:L268S	ENSP00000297977:L268S	L	-	2	0	HDX	83610584	1.000000	0.71417	0.926000	0.36857	0.931000	0.56810	6.066000	0.71185	1.930000	0.55929	0.417000	0.27973	TTG		0.453	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		51	74	0	0	0	0	51	74				
SLC16A9	220963	broad.mit.edu	37	10	61413786	61413788	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr10:61413786_61413788delCTT	ENST00000395348.3	-	5	1632_1634	c.996_998delAAG	c.(994-999)agaagt>agt	p.R332del	SLC16A9_ENST00000395347.1_In_Frame_Del_p.R332del	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	332					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CACGTTTGAACTTCTTGCTACAT	0.365																																						uc010qig.1		NA																	0				skin(2)|ovary(1)	3						c.(994-999)AGAAGT>AGT		solute carrier family 16 (monocarboxylic acid																																				SO:0001651	inframe_deletion	220963				urate metabolic process	integral to membrane|plasma membrane	symporter activity	g.chr10:61413786_61413788delCTT	AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.996_998delAAG	10.37:g.61413789_61413791delCTT	ENSP00000378757:p.Arg332del						p.R332del	NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN			5	1445_1447	-			332			Cytoplasmic (Potential).		Q6ZMI2|Q9UFH8	In_Frame_Del	DEL	ENST00000395348.3	37	c.996_998delAAG	CCDS7256.1																																																																																				0.365	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		11	99	NA	NA	NA	NA	11	99	---	---	---	---
TCP11L1	55346	broad.mit.edu	37	11	33079527	33079527	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:33079527delG	ENST00000334274.4	+	5	880	c.480delG	c.(478-480)ttgfs	p.L160fs	TCP11L1_ENST00000531632.2_Frame_Shift_Del_p.L160fs|TCP11L1_ENST00000530171.1_3'UTR|TCP11L1_ENST00000432887.1_Frame_Shift_Del_p.L160fs|TCP11L1_ENST00000324357.9_5'Flank	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	160						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						CAGAAGTCTTGGATCTGGATC	0.433																																						uc001mud.2		NA																	0					0						c.(478-480)TTGfs		t-complex 11 (mouse) like 1							77.0	73.0	74.0					11																	33079527		2202	4298	6500	SO:0001589	frameshift_variant	55346							g.chr11:33079527delG	BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 1"""				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.480delG	11.37:g.33079527delG	ENSP00000335595:p.Leu160fs					TCP11L1_uc009yju.2_5'UTR|TCP11L1_uc010rei.1_Frame_Shift_Del_p.L160fs|TCP11L1_uc001mue.2_Frame_Shift_Del_p.L160fs|TCP11L1_uc001muf.1_5'Flank	p.L160fs	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN			5	880	+			160					D3DR01|Q8IVX4	Frame_Shift_Del	DEL	ENST00000334274.4	37	c.480delG	CCDS7882.1																																																																																				0.433	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393		12	68	NA	NA	NA	NA	12	68	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125284919	125284921	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:125284919_125284921delGCT	ENST00000431078.1	+	10	1896_1898	c.1532_1534delGCT	c.(1531-1536)ggctgc>ggc	p.C512del		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	512	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.G511V(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCTTTCCAAGGCTGCATGAGGCT	0.433																																						uc002tno.2		NA																	2	Substitution - Missense(2)		breast(2)	ovary(10)	10						c.(1531-1536)GGCTGC>GGC		contactin associated protein-like 5 precursor																																				SO:0001651	inframe_deletion	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125284919_125284921delGCT	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1532_1534delGCT	2.37:g.125284919_125284921delGCT	ENSP00000399013:p.Cys512del					CNTNAP5_uc010flu.2_In_Frame_Del_p.C513del	p.C512del	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	10	1896_1898	+			512			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	In_Frame_Del	DEL	ENST00000431078.1	37	c.1532_1534delGCT	CCDS46401.1																																																																																				0.433	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			12	101	NA	NA	NA	NA	12	101	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179600777	179600778	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:179600777_179600778delGA	ENST00000591111.1	-	48	13668_13669	c.13444_13445delTC	c.(13444-13446)tccfs	p.S4482fs	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.S3555fs|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Frame_Shift_Del_p.S4799fs			Q8WZ42	TITIN_HUMAN	titin	12237	Ig-like 25.				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)			CTTAGGTCTGGAGAGAAAGGTT	0.431																																						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.(10663-10665)TCCfs		titin isoform N2-A																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179600777_179600778delGA	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.13444_13445delTC	2.37:g.179600781_179600782delGA	ENSP00000465570:p.Ser4482fs					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.S216fs	p.S3555fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		47	10887_10888	-			4482					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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.10663_10664delTC																																																																																					0.431	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	92	NA	NA	NA	NA	29	92	---	---	---	---
SATB2	23314	broad.mit.edu	37	2	200213543	200213544	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:200213543_200213544insT	ENST00000417098.1	-	7	1869_1870	c.1053_1054insA	c.(1051-1056)ccagagfs	p.E352fs	SATB2_ENST00000260926.5_Frame_Shift_Ins_p.E352fs|SATB2_ENST00000443023.1_Frame_Shift_Ins_p.E293fs|SATB2_ENST00000457245.1_Frame_Shift_Ins_p.E352fs|SATB2_ENST00000428695.1_Frame_Shift_Ins_p.E234fs	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	352					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGGTTGGCTCTGGCTTAACTG	0.54																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NA																	0				ovary(1)	1						c.(1051-1056)CCAGAGfs		SATB homeobox 2																																				SO:0001589	frameshift_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200213543_200213544insT	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1054dupA	2.37:g.200213544_200213544dupT	ENSP00000401112:p.Glu352fs					SATB2_uc010fsq.1_Frame_Shift_Ins_p.P233fs|SATB2_uc002uuz.1_Frame_Shift_Ins_p.P351fs|SATB2_uc002uva.1_Frame_Shift_Ins_p.P351fs|SATB2_uc002uvb.1_Frame_Shift_Ins_p.P94fs	p.P351fs	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			7	1870_1871	-			351_352			CUT 1.		A8K5Z8|Q3ZB87|Q4V763	Frame_Shift_Ins	INS	ENST00000417098.1	37	c.1053_1054insA	CCDS2327.1																																																																																				0.540	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		59	181	NA	NA	NA	NA	59	181	---	---	---	---
PRDM15	63977	broad.mit.edu	37	21	43221744	43221745	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr21:43221744_43221745insA	ENST00000269844.3	-	31	4289_4290	c.4179_4180insT	c.(4177-4182)cttaccfs	p.T1394fs	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000422911.1_Frame_Shift_Ins_p.T1085fs|PRDM15_ENST00000398548.1_Frame_Shift_Ins_p.T1065fs|PRDM15_ENST00000538201.1_Frame_Shift_Ins_p.T1048fs|PRDM15_ENST00000447207.2_Frame_Shift_Ins_p.T1028fs	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TCAGGGGTGGTAAGGTGCCCCA	0.579																																						uc002yzq.1		NA																	0					0						c.(4177-4182)CTTACCfs		PR domain containing 15 isoform 1																																				SO:0001589	frameshift_variant	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43221744_43221745insA	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4180dupT	21.37:g.43221746_43221746dupA	ENSP00000269844:p.Thr1394fs					PRDM15_uc002yzo.2_Frame_Shift_Ins_p.L1064fs|PRDM15_uc002yzp.2_Frame_Shift_Ins_p.L1084fs|PRDM15_uc002yzr.1_Frame_Shift_Ins_p.L1084fs	p.L1393fs	NM_022115	NP_071398	P57071	PRD15_HUMAN			31	4290_4291	-			1393_1394					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Frame_Shift_Ins	INS	ENST00000269844.3	37	c.4179_4180insT	CCDS13676.1																																																																																				0.579	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		15	38	NA	NA	NA	NA	15	38	---	---	---	---
APOL4	80832	broad.mit.edu	37	22	36595382	36595392	+	Frame_Shift_Del	DEL	ACTGTCCAGCC	ACTGTCCAGCC	-	rs200978577|rs575676675	byFrequency	TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:36595382_36595392delACTGTCCAGCC	ENST00000405511.1	-	4	488_498	c.66_76delGGCTGGACAGT	c.(64-78)gtggctggacagttcfs	p.AGQF23fs	APOL4_ENST00000404685.3_Frame_Shift_Del_p.AGQF26fs|APOL4_ENST00000328429.4_Frame_Shift_Del_p.WLDS40fs|APOL4_ENST00000397275.2_Frame_Shift_Del_p.WLDS40fs|APOL4_ENST00000352371.1_Frame_Shift_Del_p.AGQF26fs|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000332987.1_Frame_Shift_Del_p.AGQF23fs|APOL4_ENST00000429038.2_Frame_Shift_Del_p.AGQF23fs	NM_030643.3	NP_085146.2	Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	26					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	extracellular space (GO:0005615)	lipid binding (GO:0008289)			lung(1)	1						TTACCTTGGAACTGTCCAGCCACTGTCCAGC	0.54																																						uc003aox.2		NA																	0					0						c.(73-87)GTGGCTGGACAGTTCfs		apolipoprotein L4 isoform 2 precursor																																				SO:0001589	frameshift_variant	80832				lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding	g.chr22:36595382_36595392delACTGTCCAGCC	AF305226	CCDS74851.1, CCDS74852.1	22q11.2-q13.2	2013-01-24			ENSG00000100336	ENSG00000100336		"""Apolipoproteins"""	14867	protein-coding gene	gene with protein product		607254				11374903	Standard	NM_030643		Approved	APOLIV	uc003aox.3	Q9BPW4	OTTHUMG00000150630	ENST00000405511.1:c.66_76delGGCTGGACAGT	22.37:g.36595382_36595392delACTGTCCAGCC	ENSP00000384011:p.Ala23fs					APOL4_uc003aow.2_Frame_Shift_Del_p.V22fs|APOL4_uc010gww.2_5'UTR|APOL4_uc003aoy.2_RNA	p.V25fs	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN			3	300_310	-			25_29					Q9BQ37|Q9BXQ8	Frame_Shift_Del	DEL	ENST00000405511.1	37	c.75_85delGGCTGGACAGT																																																																																					0.540	APOL4-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000319256.2	NM_145660		7	75	NA	NA	NA	NA	7	75	---	---	---	---
SENP6	26054	broad.mit.edu	37	6	76412714	76412714	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:76412714delC	ENST00000447266.2	+	19	3120	c.2642delC	c.(2641-2643)tccfs	p.S881fs	SENP6_ENST00000370014.3_Frame_Shift_Del_p.S881fs|SENP6_ENST00000541192.1_Intron|SENP6_ENST00000370010.2_Frame_Shift_Del_p.S874fs	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	881	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GAATCTACATCCCAGAAAGTT	0.328																																						uc003pid.3		NA																	0				breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6						c.(2641-2643)TCCfs		SUMO1/sentrin specific peptidase 6 isoform 1							162.0	164.0	163.0					6																	76412714		1839	4084	5923	SO:0001589	frameshift_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76412714delC		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2642delC	6.37:g.76412714delC	ENSP00000402527:p.Ser881fs					SENP6_uc003pie.3_Frame_Shift_Del_p.S874fs|SENP6_uc010kbf.2_Intron	p.S881fs	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN			19	3261	+		all_hematologic(105;0.189)	881			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Frame_Shift_Del	DEL	ENST00000447266.2	37	c.2642delC	CCDS47454.1																																																																																				0.328	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		60	282	NA	NA	NA	NA	60	282	---	---	---	---
AOC1	26	broad.mit.edu	37	7	150553769	150553780	+	In_Frame_Del	DEL	CTCATCGAGATG	CTCATCGAGATG	-			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:150553769_150553780delCTCATCGAGATG	ENST00000493429.1	+	4	795_806	c.211_222delCTCATCGAGATG	c.(211-222)ctcatcgagatgdel	p.LIEM71del	AOC1_ENST00000467291.1_In_Frame_Del_p.LIEM71del|AOC1_ENST00000416793.2_In_Frame_Del_p.LIEM71del|AOC1_ENST00000360937.4_In_Frame_Del_p.LIEM71del			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	71					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CACCGTGTTTCTCATCGAGATGCTGCTGCCCA	0.557																																						uc003why.1		NA																	0				ovary(2)|breast(2)|skin(2)	6						c.(211-222)CTCATCGAGATGdel		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)																																			SO:0001651	inframe_deletion	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150553769_150553780delCTCATCGAGATG	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.211_222delCTCATCGAGATG	7.37:g.150553769_150553780delCTCATCGAGATG	ENSP00000418614:p.Leu71_Met74del					ABP1_uc003whz.1_In_Frame_Del_p.LIEM71del|ABP1_uc003wia.1_In_Frame_Del_p.LIEM71del	p.LIEM71del	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	4429_4440	+	all_neural(206;0.219)		71_74					C9J690|Q16683|Q16684|Q56II4|Q6GU42	In_Frame_Del	DEL	ENST00000493429.1	37	c.211_222delCTCATCGAGATG	CCDS43679.1																																																																																				0.557	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		14	161	NA	NA	NA	NA	14	161	---	---	---	---
PIWIL2	55124	broad.mit.edu	37	8	22172591	22172591	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:22172591delC	ENST00000454009.2	+	18	2650	c.2141delC	c.(2140-2142)gccfs	p.A714fs	PIWIL2_ENST00000356766.6_Frame_Shift_Del_p.A714fs|PIWIL2_ENST00000521356.1_Frame_Shift_Del_p.A714fs	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	714	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.A714V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CGGAGTGTGGCCCAGAAGATT	0.483																																						uc003xbn.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2140-2142)GCCfs		piwi-like 2							142.0	137.0	139.0					8																	22172591		2203	4300	6503	SO:0001589	frameshift_variant	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22172591delC	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2141delC	8.37:g.22172591delC	ENSP00000406956:p.Ala714fs					PIWIL2_uc011kzf.1_Frame_Shift_Del_p.A714fs|PIWIL2_uc010ltv.2_Frame_Shift_Del_p.A714fs	p.A714fs	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	18	2289	+			714			Piwi.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Frame_Shift_Del	DEL	ENST00000454009.2	37	c.2141delC	CCDS6029.1																																																																																				0.483	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			29	89	NA	NA	NA	NA	29	89	---	---	---	---
